45Th Annual Meeting of the European Paediatric Ophthalmological Society

45th Annual Meeting of the European Paediatric Ophthalmological Society

30 May – 1 June 2019 National Library of Latvia Riga, Latvia

www.epos-focus.org/meetings www.epos2019.lv

Program and Abstract book European Paediatric Ophthalmological Society (EPOS) Topic and location of previous annual meetings

2019 - 2001 •• 1998 Dublin, Ireland Metabolic diseases of the eye •• 2019 Riga, Latvia •• 1997 Cambridge, UK From common to rare diseases: Advances in Neonatal ophthalmology Paediatric Ophthalmology •• 1996 Valencia, Spain •• 2018 Budapest, Hungary Neuro-ophthalmology Imaging in paediatric ophthalmology •• 1995 Cambridge, UK •• 2017 Oxford, UK Dysmorphology and the eye Hereditary retinal dystrophies: from genetics to gene therapy •• 1994 Regensburg, Germany Teratology and the eye •• 2016 Zurich, Switzerland Paediatric Neuro-ophthalmology •• 1993 Cambridge, UK Phacomatoses •• 2015 Saint Petersburg,Russia Innovations in Paediatric Ophthalmology •• 1992 Oxford, UK Retinal receptor dystrophies •• 2014 Barcelona, Spain Paediatric Cataracts & Paediatric Glaucoma •• 1991 Sandjberg, Denmark Multiply handicapped and the ophthalmologist •• 2013 Leiden, The Netherlands Paediatric Ophthalmic Tumours •• 1990 Oxford, UK Anomalies of the anterior segment •• 2012 in Uppsala, Sweden Developments in Paediatric Ophthalmology •• 1989 Bruges, Belgium Retinopathy of prematurity •• 2011 in Thessaloniki, Greece Visual Impairment in Childhood •• 1988 Oxford, UK Genetic diseases of the cornea •• 2010 Bad Nauheim, Germany New Challenges in Paediatric Ophthalmology •• 1987 Geneva, Switzerland Neuro-ophthalmology •• 2009 Paris, France Perinatal Ophthalmology •• 1985 Oxford, UK Hearing and the eye •• 2008 Leuven, Belgium The Eye in Systemic Disease •• 1983 Amsterdam, The Netherlands Genetics and ophthalmology •• 2007 Portoroz, Slowenia Paediatric Electrophysiology and Psychophysics •• 1982 Oxford, UK Ocular and adnexal tumours in childhood •• 2006 Vilamoura, Portugal Pediatric Neuro-ophthalmology •• 1981 Ghent, Belgium Genetics and ophthalmology •• 2005 Warszaw, Poland Advances in the surgical treatment of pediatric eye •• 1980 Geneva, Switzerland diseases Retinal disease in childhood •• 2004 Manchester, UK •• 1979 Oxford, UK Developmental genes and the eye Visual development in childhood normal and abnormal •• 2003 Regensburg, Germany Gene Therapy and Other Modern Therapeutic •• 1978 Freiburg, Germany Approaches in Paediatric Retinal Degenerations Genetics and ophthalmology •• 2002 Figuera da Foz, Portugal •• 1977 Oxford, UK Dysmorphology of the Eye and Orbit Nystagmus •• 2001 Regensburg, Germany •• 1976 Nijmegen, The Netherland Trends in Paediatric Ophthalmology Cataract in childhood •• 1975 Copenhagen, Denmark Visually handicapped children the ophthalmologist’s As European Paediatric responsibility Ophtalmology Group (EPOG) •• 1974 Oxford, UK 2000 - 1973 Visual function in childhood •• 1973 Oxford, UK •• 2000 Cambridge, UK Retinitis pigmentosa Retinal dystrophies •• 1999 Strasbourg, France Multisystem disease and the eye

2 Table of contents

Letter from the President ...... 4

Letter from the Local Host ...... 5. . . .

Committees of the 45TH EPOS meeting ...... 6. . . .

What is Latvia and who are Latvians? ...... 7

General information ...... 16 . . . .

Scientific program ...... 20 . . . .

Lecture abstracts ...... 24. . . . .

Free paper Abstracts ...... 68

Rapid Fires + Poster Abstracts ...... 82. . . .

Poster Abstracts ...... 94. . . . .

Practical workshops ...... 130 . . . .

Sponsors ...... 138

3 Letter from the President

Dear Colleagues and Friends, I am very pleased to welcome you to the 45th Annual Meeting of the European Paediatric Ophthalmological Society between 30th May and 1st June 2019, which is entitled “From common to rare diseases: Advances in Paediatric Ophthalmology” . The meeting this year will take EPOS to the historic Baltic region and be held in the beautiful capital of Latvia, Riga . Located on the picturesque shores of the Baltic Sea with an illustrious history going back to Hanseatic and Viking times at the crossroads between West and East, Riga is the Baltic’s largest city with a historical centre that is a UNESCO World Heritage Site . Our local hosts this year are Dr Sandra Valeina, EPOS Board Member and Head of Paediatric Ophthalmology at Riga’s Children’s Clinical University Hospital, and her colleagues who have worked closely with the EPOS Board over the last year to prepare an excellent conference programme . EPOS’ main scientific aim is to advance the field of Paediatric Ophthalmology by promoting scientific research and the development and adoption of the best diagnostic and therapeutic methods available for children with visual and ocular disorders and their families . To this effect, the meeting this year will include 37 Invited Lectures, 41 Free Papers and Rapid Fire Presentations, as well as 85 Poster Presentations, covering advances in all areas of Paediatric Ophthalmology, including ROP, myopia, oculoplastics, orbit, ocular surface disease, cataracts, glaucoma, genetics, retinal disease, oncology, neuro-ophthalmology, as well as abusive head injury and ocular trauma in children . Last year, we introduced roundtables as a new EPOS feature to discuss an important topic in paediatric ophthalmology, using a more informal and interactive format . This year, we have prepared two roundtables around Paediatric Cataracts and National Screening Programmes for Amblyopia . In close collaboration between Riga Children’s Clinical University Hospital and EPOS, we will also run 3 additional workshops just before and after the 45th EPOS Meeting on live oculoplastic surgery, retinoblastoma and cerebral visual impairment . With over 300 registered delegates from 33 countries, I hope that in between the scientific sessions and amongst the great beauty of our surroundings in Riga, the meeting will promote the creative exchange of new ideas and lead to new collaborations, fellowship and friendships in our field! To encourage young ophthalmologists under 35 years, the Board has again agreed to grant multiple Travel Awards and Prizes for Best Poster, Best Rapid Fire and Best Free Paper presentations, which will be awarded at the end of the meeting . On behalf of the EPOS Board, I would like to thank again our local organiser, Dr Sandra Valeina, and her colleagues in Latvia, Estonia and Lithuania, for their excellent work in hosting our 45th Annual Meeting of EPOS for the first time in the Baltics. I would also like to take this opportunity to warmly thank all the speakers, contributors, sponsors and delegates for coming from many parts of the world to contribute to a very fruitful and friendly EPOS meeting in Riga . I look much forward to meeting you and wish us a very stimulating and enjoyable time in beautiful Riga!

G Darius Hildebrand President, EPOS Oxford, United Kingdom

4 Letter from the Local Host

Dear Colleagues and Friends,

It is a pleasure to welcome you to the 45th annual meeting of the European Paediatric Ophthalmological Society (EPOS) in Riga, especially for the reason that it is the first time when EPOS conference is held in one of the Baltic States – in Latvia .

On November 18, 2018, our beautiful country celebrated its centennial jubilee, when we looked back, reassessed the past, and made a step forward to the bright future . We celebrated the centennial with the red-white-red flag and the anthem “God bless Latvia!” We are truly pleased and grateful to welcome so many distinguished speakers and international colleagues to our country, dear guests!

In 2014, Riga was the European Capital of Culture . Latvian choirs, singers, artists are known in Europe and the world . And in 2019, Riga is the capital of European Paediatric Ophthalmology . Paediatric ophthalmologists and other ophthalmology and vision specialists will come to work together .

Our aim is to show the great advances and current developments in paediatric ophthalmology as witnessed by the impressive range of projects and research from all over Europe, and further away, during the conference . As the topic of the conference is “From common to rare diseases: Advances in Paediatric Ophthalmology” we have included in the conference program almost all ophthalmological topics . Another aim is to introduce world-reknown invited speakers to EPOS delegates from the Baltic and Eastern European region, and to introduce Baltic and Eastern European invited speakers to delegates from Western Europe .

Paediatric ophthalmology is a serious challenge in any country . To help patients, knowledge, diligence, and efficiency are not enough. Empathy, understanding and all years of experience in ophthalmology are needed . The strength of the Earth and the wisdom of the Heaven are needed .

The 45th Annual Meeting of the European Paediatric Ophthalmological Society in Riga takes place in the building of the National Library of Latvia, which resembles a glass mountain with a princess asleep on it . The world-renowned Latvian poet Rainis, whose allegoric sculpture can be seen in front of the Library, in the play “Golden Horse”, written 110 years ago, depicts the development of all humanity . Two clever and brave brothers cannot come up on the glass hill, but the third brother called Antiņš, also called a fool, did. He is the one who believes, helps, and does not ask anything for himself; the one who is ready to sacrifice himself to achieve his noble aim. The White Father depicted in the play, who assists Antiņš, simulates change and development . His words “He who changes, shall remain” is the wish for all of us .

I would like to thank EPOS President Darius Hildebrand and the EPOS Board for their advice and helpful hand throughout during the laborious organization and preparations for the conference since 2017 . Thanks also to Anna Manuhina, EPOS manager, for the patience and efficiency.

I hope that together we have succeeded in creating a beautiful and meaningful conference that will help us to advance and to help us understand both the patient and the diseases better, looking at things and processes as different, inclusive parts of one whole .

Only together, we can make this world a better place for our patients and for ourselves. Let the words from the Riga Children’s Clinical University Hospital logo be the moto of EPOS conference: “Happiness in serving children!”

Sandra Valeina Riga, Latvia

5 Committees of the 45TH EPOS meeting

Board of European Paediatric Local Organizing Committee

Ophtalmological Society Sandra Valeina

President

Göran Darius Hildebrand (UK)

Secretary

Eva Larsson (Sweden)

Treasurer

Veit Sturm (Switzerland)

Members

Catherina Cassiman (Belgium) Anne Cees Houtman (Netherlands) Metthieu P . Robert (France) Sandra Valeina (Latvia)

6 What is Latvia and who are Latvians?

Giant people, the widest waterfall in Europe and pagan festivities… Check out these amazing but true facts about surreal Latvia!

One of the last corners of Europe to join Christendom, Latvians are still very much pagans at heart. They worship nature by jumping over bonfires at Midsummer Eve, and many surnames are about birds, animals or trees .

Latvians are a people to look up to. Latvia has the world’s tallest women, with the average lady coming in at an impressive 170 cm . The men are no midgets either, holding fourth place .

7 What is Latvia and who are Latvians?

Riga’s Central Market is one of Europe’s biggest markets. It is famed for its pavilions housed in giant zeppelin hangars .

With over 500 km of coast, Latvia has tons of beaches. There’s space for everyone, whether you want fun in the sun or miles of sand to yourself, and best of all its all open to the public .

8 What is Latvia and who are Latvians?

Over half its territory covered by forest, so Latvia is a very green place . Locals love to pick mushrooms and berries, and at Midsummer young couples duck into the woods to look for the mythical flowering fern. No such plant exists, but the search goes on…

Latvia has a huge capital relative to its tiny population, with over one third of the population living in Riga . But you wouldn’t know it on a summer weekend when everyone heads for their cottage in the countryside .

9 What is Latvia and who are Latvians?

With over 800 Art Nouveau buildings, Riga has one of the world’s greatest galleries of this joyful style . Alberta iela is a street almost entirely created by Art Nouveau genius Mikhail Eisenstein, and his son film director Sergei Eisenstein was one of the founders of modern cinema.

You don’t need to go to a health food store in Latvia to find organic food, because locals find fantastic ingredients on their own . From birch sap juice in spring to berries in summer and mushrooms in autumn, Latvians are a nation of foragers .

10 What is Latvia and who are Latvians?

With over 1 million folk songs, Latvians love to sing . You can catch over 10,000 of them on stage at once at the Song Festivals, and opera stars like Inese Galante, Elīna Garanča, Aleksandrs Antoņenko and Egils Siliņš delight audiences at home and abroad.

Latvia is Wifi paradise. It has the world’s fourth fastest internet connections, and with over 800 free connection points in Riga, you don’t even need to pay for it . Latvia also holds the world record for the longest ever phone conversation, a 54 hour 4 minute marathon in 2012 .

11 What is Latvia and who are Latvians?

The Ventas Rumba in Kuldīga is the widest waterfall in Europe, and in spring you can see fish jumping up the rapids as they head for spawning sites .

Next time you put on a pair of jeans, thank Latvian-born tailor Jacob Davis . In 1871 in Reno, Nevada, he invented denim as a tough material for trousers, then made a fortune in partnership with fabric merchant Levi Strauss .

12 What is Latvia and who are Latvians?

Chugging down 78 litres of beer per capita every year, Latvians love a cold brew on a summer’s evening . The country also boasts one of the world’s most northerly outdoor vineyards in the village of Sabile.

Latvia’s national sport is ice hockey, and it punches well above its weight for a small country . Dozens of Latvians play in the NHL and KHL, and the national team’s fans are regarded as the loudest and most passionate around .

13 What is Latvia and who are Latvians?

Latvia has almost 20 hours of daylight at midsummer, and locals make the most of it by partying outdoors and relaxing in nature. The lovely golden light typical of these latitudes has obsessed generations of painters and photographers .

Latvia is a small country, but at one stage it had colonies abroad . In the 1600’s, the independent Duchy of Courland covering western Latvia was a powerful maritime nation and controlled part of Gambia in Africa and the Caribbean island of Tobago .

14 What is Latvia and who are Latvians?

Legendary painter Mark Rothko was born in Daugavpils, southeast Latvia, before finding fame in the US . Sold in 2014 for a cool 140 million euros, his No . 6 (Violet, green and red) is one of the priciest paintings of all time .

Every year in August, the village of Aglona in the Latgale region briefly becomes Latvia’s second biggest city, when over 200,000 people converge on the local basilica at the end of one of Europe’s biggest pilgrimages .

15 General information

Venue

On the left bank of the Daugava, in a stone’s throw distance from the Old Town, an extraordinary, culturally significant edifice the new National Library, the Castle of Light, looms. The National Library of Latvia (NLL) is a cultural, scientific and educational centre of national significance. The NNL’s mission is to build and maintain a repository of national and world literature . The core of the 4 million items in the massive NLL collection comprises Latvian and foreign publications about Latvia and Latvians . The NLL building - Gaismas pils - named after the Castle of Light in a legendary Latvian tale - was opened to the public in 2014 . It was designed by world-renowned Latvian-born architect Gunnar Birkerts (USA) .

Latvijas Nacionālā bibliotēka Mūkusalas iela 3, Rīga, LV-1423 Tālr. 67806100 Fakss 67280851

16 General information

Local organizing committee

Elizabetes str 31, Riga, Latvia +371 6 7228428 +371 2 7791918 info@btgroup .lv www .baltic travel.

Congress Secretariat and Registration desk is located just opposite to the main entrance of the conference venue . The registration desk where the advanced and onsite registrants may pick up their meeting materials is operating in the following hours:

Thursday, 30 May 2019, 16:00 – 19:00 Friday, 31 May 2019, 07:30 -18:00 Saturday, 1 June 2019, 07:30 – 17:00

For any assistance, please, do not hesitate to contact us .

17 General information

Schedule of the meeting

30 May, Thursday

16:00-18:00 Registration for the pre-registered participants Onsite registration Poster mounting 18:00-20:00 Welcome reception with snacks Venue: Latvian National Library, Riga, Latvia

31 May, Friday

07:30 – 18:00 Registration for the pre-registered participants Onsite registration 08:00 – 17:30 Scientific program 17:30 – 18:30 EPOS General Assembly 19:00 Gala dinner for pre-registered participants Venue: Hotel Radisson Blu Daugava, Inner yard

1 June, Saturday

07:30 – 16:00 Registration for the pre-registered participants Onsite registration 08:00 – 17:25 Scientific program 17:25 – 18:00 Closing remarks . Award ceremony

18 General information

Accreditation and certificate of attendance

The 45th annual meeting of the European Paediatric Ophthalmological Society (Riga, Latvia, 30/05/2019 – 01/06/2019) has been accredited by the European Accrediation Council for Continuing Medical Education (EACCME®) for a maximum of 14 European CME credits (ECMEC®s)

Badge

Participants will receive a badge upon arrival at the registration desk . Since your personal badge is your entrance ticket to the meeting, please make sure that you wear your badge at all times during the activities .

Cloakroom

We kindly ask you not to take coats and large bags into the lecture hall . Please use the free cloakroom on the ground floor as it is noted.

Language

The official language of the meeting is English.

Non-smoking policy

Smoking is prohibited inside the building .

Photography

Please note that an official photographer will be present during the meeting. For your kind information, the photos will be protected by EPOS and will be available on the EPOS congress websites after the congress . If you do not want to appear on the photos, please inform the photographer and try to avoid common photosessions .

Wi-Fi

Conference hall, 1 floor: Network: EPOS Password: meeting45

Conference center, -1 floor: Network: EPOS-1 Password: meeting45

Seats in the lecture hall

Since the EPOS 2019 meeting will gather more than 400 persons, we kindly ask you not to leave free seats between each other . Let’s get closer to each other and make sure that everyone feel comfortable .

19 Scientific program

31 May, Friday

Rector of Riga Stradin's University Aigars Petersons 8:00 8:00: 8:23 Director of Riga Children's Clinical University Hospital Valts Abols 8:03 Welcome Presidents of Latvian Ophthalmological Society Guna Laganovska 8:06 and Opening Remarks President of EPOS Darius Hildebrand 8:09 EPOS local host/ Patient's parents representative Sandra Valeina/ Henrijs Ķiģelis 8:12 Latvian anthem Latvian anthem + musik (5 min) 8:15 L1 What could be the ERN-EYE role in Paediatric Hélène Dollfus (ERN-EYE) 8:25 Moderators: Ophthalmology? 8:25-9:15 H . Dollfus L2 ERN-EYE from patient representative perspective Christina Fasser (ERN-EYE) 8:40 ERN-EYE K . Fasser L3 Classification,ontology & paediatric Discussion Panagiotis Sergouniotis (ERN- S . Valeina ophthalmology - seeking the right term for a clinical 8:55 Eye) presentation How to work with CPMS panel at the ERN-EYE L4 The CPMS-panel in practice . Laura Mauring (ERN-EYE) 9:05 stend during breaks L5 Aqueous humor invasion in retinoblastoma: dissecting tumor cell itinerary and defining Francis Munier (Switzerland) 9:15 conservative therapeutic strategies L6 Orbital Masses in Children Geoff Rose(UK) 9:35 L7 Surgical approach to orbital lymphangioma Karla Chaloupka (Switzerland) 9:55 L8 Can betablocker drops be enough for deep Darius Hildebrand (UK) 10:10 infantile hemangiomas? Moderators: 9:15-11:15 L9 Lessons to learn about pediatric oculoplastic Artur Klett (Estonia) 10:25 Eye and G .Rose surgery orbital tumors; F . Munier L10 Orbital reconstruction after enucleation and rtg Christoff Hintschich 10:40 Oculoplastics A . Klett therapy (Germany) FP1 VCN-01: from the preclinic to a phase I trial for Catala-Mora Jaume (Spain) 10:55 refractory retinoblastoma patients FP2 Visual outcome in retinoblastoma: efficacy of Marie-Claire Gaillard 11:01 amblyopia treatment (Switaerland) RF1 Lacrimal gland abnormalities in blepharophimosis, ptosis and epicanthus inversus Catarina Xavier (Portugal) 11:07 syndrome 11:15-11:45 — Coffee Break and Poster Exhibition 11:10 L11 Intracranial hypertension in children Klara Landau (Switzerland) 11:40 L12 A Unifying Neurological Mechanism for Infantile Michael Brodsky (USA) 12:00 Nystagmus L13 Eye manifestation of Kawasaki syndrome Veit Sturm ( Switzerland) 12:20 L14 Anisocoria : step by step from physiological Santa Heede (Latvia/ 12:35 anisocoria to severe diseases Germany) Moderators: 11:45-13:10 FP3 Are vascular abnormalities associated with K . Landau Matthieu Robert (France) 12:50 Neuro- morning glory disk anomaly really moyamoya? opthalmology M .Brodsky FP4 Paediatric idiopathic intracranial hypertension: symposium V . Sturm correlations of RNFL thickness with clinical and Filipa Teixeira (Portugal) 12:56 treatment features . FP5 Paediatric Optic Neuritis: A Single Centre Arundhati Dev Borman (UK) 13:02 Experience RF2 Neuro-ophthalmic complications of endosteal hyperostosis . The importance of ophthalmology Aisling Higham (UK) 13:08 monitoring

20 Scientific program

13:00 (13:10)–14:00 — Lunch and Poster Exhibition 13:11 L15 Prediction models for screening, preventive Ann Hellström (Sweden) 14:05 strategies and up-to date treatment of severe ROP L16 Risks in ROP screening Gil Binenbaum (USA) 14:25 L17 Severe ROP incidence changes and quality improvement in Neonatal Intensive Care in Latvia in Dace Sniedze (Latvia) 14:45 last 20 years L18 Prevention and treatment of late retinal Oleg Sinavskii (Russia) 15:00 detachment in patients with ROP FP6 Anti-VEGF therapy and vitrectomy in the Artur Baranov (Russia) 15:15 treatment of severe forms of ROP . FP7 Mathematical justification of hexagonal pattern scan laser photocoagulation in the treatment of Victoria Firsova (Russia) 15:23 Moderators: active ROP 14:00-16:00 E . Larsson FP8 Optical Coherence Tomography Angiography in ROP A . Hellstrom children with spontaneously regressed retinopathy of Asimina Mataftsi (Greece) 15:29 prematurity G . Binenbaum RF3 An overview on the screening and treatment of Retinopathy of Prematurity in a Tertiary Hospital in Diana Raluca Pop (Romania) 15:35 Cluj-Napoca (Romania) during a Thirteen-Year Period (2005-2018) RF4 The impact of the implementation of ROP local screening program and neonatal care improvement Antra Treija (Latvia) 15:38 on ROP treated premature babies in Children’s University hospital Riga . RF5 NEDROP-2: Outcome and quality of ROP- Kasia Trzcionkowska 15:41 screening in the Netherlands (Netherlands) RF6 The analysis of the incidence and the clinical characteristics of aggressive posterior retinopathy of Natalya Fomina (Russia) 15:44 prematurity Abusive head L19 Abusive head injury and its management - a Gil Binenbaum (USA) 15:47 injury practical approach 16:00-16:30 — Coffee Break and Poster Exhibition 16:02 L20 I Can’t Believe I Did That! Creig Hoyt (USA) 16:30 16:30-17:30 Moderators: L21 Listen, look, think: make diagnoses! David Taylor (UK) 16:50 Banana Skins in D . Taylor Diagnosis and C . Hoyt L22 Relax He/She is a baby . Creig Hoyt (USA) 17:10 Management C . Parsa

17:30-18:30 — EPOS General Assembly 17:30 19:00 — Conference Dinner 19:00

L — Lecture Abstracts FP — Free Paper Abstracts RF — Radip Fire Abstracts

21 Scientific program

1 June, Saturday

L23 Inventory of vision screening programmes across Sandra Valeina (Latvia, 8:00 Europe . EUSCREEN) Quiz to determine different approaches Nicoline Schalij- towards eyescreening: you need a mobile 8:05 Delfos(Netherlands) phone connected to wifi! L24 Pros and cons in the development of a guideline Nicoline Schalij- 8:15 for Eye-screening in the Netherlands . Delfos(Netherlands)

L25 Eye screening for children in Germany Oliver Ehrt (Germany) 8:25

FP9 Children's Eye Screening as a Part of General Preventive Child Healthcare Screening Program in Mari Levin (Estonia) 8:40 8:00-10:00 Estonia: a New Beginning . EUSCREEN project . EUSCREEN FP10 How can we build eye screening for children in project Zanda Ruskule (Latvia) 8:48 Moderators: states where are optometrists . Vision sreening N . Schalij- Round table discussion. Conclusions. moderator N .Schalij- Delfos 8:56 systems for Delfos children L26 Deprivational Amblyopia John Sloper ( UK, ESA) 9:10 J . Sloper L27 CVI- what could be the role of ophthalmologist ? Niranjan Pehere( India) 9:25 Round Table O . Ehrt Participants: FP11 Use of foveal-birefringence-based fixation speakers and detection to facilitate objective eye examinations in Kristina Irsch (USA) 9:40 audience young children

FP12 Interventions to prevent myopia progression in children to reduce long-term sight loss: A systematic Aisling Higham (UK) 9:48 review and meta-analysis

RF7 Comparison of cycloplegic binocular Margarida Brizido (Portugal) 9:54 autorefraction with retinoscopy in children

RF8 Anterior segment OCT demonstrates Annegret Dahlmann-Noor 9:57 effectiveness of cyclopentolate for cycloplegia (UK)

RF19 Utility of Ophthalmologic Screening in the Detection of Infectious Etiologies in Intrauterine Kara LaMattina (USA) 10:00 Growth Restriction 10:05-10:35 — Coffee Break and Poster Exhibition 10:03 L28 Paediatric Cataract and Systemic Disease Chris Lloyd(UK) 10:35

L29 What we can learn from IATS and IOLu2 Lola Solebo (UK) 10:50

L30 IOL implantation under 2 years of age Nikolas G . Ziakas (Greece) 11:05

L31 Lesson from paediatric cataract management in Richard Bowman(UK) 11:20 Sub-Saharan Africa

L32 EURECCA - European Registry of Childhood Marie-José Tassignon 11:35 Cataract (Belgium)

Participants: M-J Tassignon, Round Table discussion. Conclusion. L Solebo, R Bowman, Nikolas 11:50 10:35-13:00 Moderators: Ziakas Pediatric cataract C . Lloyd FP13 Visual function after bilateral implantation of D . Hildebrand multifocal versus monofocal IOLs in children below 5 Marek Prost (Poland) 12:05 Round Table years of age

FP14 Reduced rate of secondary glaucoma in Alf Nyström (Sweden) 12:11 paediatric cataract surgery after 5 weeks of age .

FP15 Describing a novel technique for manual primary posterior capsulotomy in paediatric cataract Amit Chhabra (UK) 12:17 surgery

RF9 Long-term refractive outcomes after congenital Romain Touzé (France) 12:23 cataract surgery

RF10 Re-evaluation and comparison of the Maira Vēze (Latvia) 12:26 effectiveness of congenital cataract screening

22 Scientific program

Manca Tekavcic Pompe L33 Congenital glaucoma update 12:29 (Slovenia)

FP16 The correlation of the inner macular layers thickness with the visual field defect in children with Maria Nieves-Moreno (Spain) 12:44 Moderators: primary congenital glaucoma Pediatric N . Zikias RF11 Newborn primary congenital glaucoma: is early glaukoma Maria Elisa Luís (Portugal) 12:50 A . Nyström surgical interventional important? RF12 When angle surgery is not enough: options in Maria Elisa Luís (Portugal) 12:53 congenital glaucoma

RF13 Primary congenital glaucoma :long-term visual Emmanuel Marciano (France) 12:56 results and prognostic score 13:00-14:00 — Lunch and Poster Exhibition 12:59 FP17 Clinical utility of genetic testing in pre-school Panagiotis Sergouniotis (UK, 14:00 children with inherited eye disease ERN-EYE)

Dominique Bremond-Gignac L34 Aniridia update in managment . 14:08 (France)

L35 Corneal dystrophties in childhood Hans Ulrik Møller ( Denmark) 14:23

FP18 On the origin of Brushfield spots and Wölfflin Cameron Parsa (USA) 14:38 iris nodules 14:00-16:30 FP19 Molecular mechanisms of Genetic testing Moderators: Annegret Dahlmann-Noor blepharokeratoconjunctivitis in children and young 14:46 (UK) Aniridia I . Casteels people Corneal D . Bremond- RF14 Short-term oral corticosteroids for shield ulcers Annegret Dahlmann-Noor dystrophies Gignac 14:54 in severe atopic and vernal keratoconjunctivitis (UK) Cistinosis G . Rudolph RF15 Descemet Membrane Endothelial Keratoplasty Etc . (DMEK) in infants with congenital endothelial Gilles Martin (France) 14:57 dysfunction

RF16 Double Trouble - Peter's Anomaly . Doha Jbara (Israel) 15:00

L36 Ocular cystinosis Ingele Casteels (Belgium) 15:03

FP20 Cystinosis – Review of ophthalmological findings and treatment challenges of in a German Claudia Priglinger (Germany) 15:18 patient cohort

L37 Retinitis pigmentosa and why we should prefer Birgit Lorenz (Germany) 15:25 the term inherited retinal degenerations

L38 Autosomal-recessive Stargardt disease and its Kalev Noupuu (Estonia) 15:45 phenotypic variability Moderators: L39 Coats disease Arvydas Gelzinis (Lithuania) 16:00 B . Lorenz Retinal diseases FP21 Bestrophinopathies with particular attention to C . Cassiman Rudolph Guenther (Germany) 16:15 autosomal recessive Bestrophinopathy (ARB) M . Robert RF17 Choroidal Neovascularization secondary to Best Catala-Mora Jaume (Spain) 16:21 Vitelliform Macular Distrophy in Pediatric Patients

RF18 Presymptomatic chorioretinopathy in LCHAD Eva Roomets (Estonia) 16:24 deficiency - multimodal assessment of 12 cases 16:27-17:00 — Coffee Break and Poster Exhibition 16:27

Moderators: L40 Pediatric eye trauma Nadja Bobrova (Ukraine) 17:00 17:00-17:25 A . Cees Pediatric Eye O . Synavskii RF20 Epidemiological characteristics and visual Trauma Monika Vieversyte (Lithuania) 17:20 L . Welinder outcomes of pediatric ocular trauma

17:25-18:00 — Awards. Presentation for next year. Closing Remarks 17:25

L — Lecture Abstracts FP — Free Paper Abstracts RF — Radip Fire Abstracts

23 Lecture abstracts

24 Lecture abstracts

31 May, Friday 1 June, Saturday

L1 What could be the EYE-EYE role in Paediatric L23 Inventory of vision screening programs across Europe . Ophthalmology? Sandra Valeina (Latvia) Hélène Dollfus (France, ERN-EYE) L24 Pros and cons in the development of a guideline for L2 ERN-EYE from patient representative perspective Eye-screening in the Netherlands . Christina Fasser (Switzerland, ERN-EYE) Nicoline Schalij- Delfos(Netherlands) L3 Classification, ontology & paediatric ophthalmology — L25 Eye screening for children in Germany seeking the right term for a clinical presentation Oliver Ehrt (Germany) Panagiotis Sergouniotis (UK, ERN-EYE) L26 Deprivational Amblyopia L4 The CPMS-panel in practice John Sloper ( UK, ESA) Laura Mauring (Estonia/France, ERN-EYE) L27 CVI- what could be the role of ophthalmologist ? L5 Aqueous humor invasion in retinoblastoma: dissecting tumor cell itinerary and defining conservative Niranjan Pehere( India) therapeutic strategies . L28 Paediatric Cataract and Systemic Disease Francis Munier (Switzerland) Chris Lloyd(UK) L6 Orbital Masses in Children L29 What we can learn from IATS and IOLu2 Geoffrey E. Rose(UK) Lola Solebo (UK) L7 Surgical approach to orbital lymphangioma L30 IOL implantation under 2 years of age Karla Chaloupka (Switzerland) Nikolas Ziakas (Greece) L8 Can betablocker drops be enough for deep infantile L31 Lesson from paediatric cataract management in Sub- hemangiomas? Saharan Africa Darius Hildebrand (UK) Richard Bowman(UK) L9 Lessons to learn about paediatric oculoplastic surgery L32 EURECCA - European Registry of Childhood Cataract Artur Klett (Estonia) Marie-José Tassignon (Belgium) L10 Orbital reconstruction after enucleation and rtg th . L33 Congenital glaucoma update Christoff Hintschich (Germany) L11 Intracranial hypertension in children Manca TEKAVCIC POMPE (Slovenia) Klara Landau (Switzerland) L34 Aniridia update in managment . L12 A Unifying Neurological Mechanism for Infantile Dominique Bremond-Gignac (France) Nystagmus L35 Corneal dystrophties in childhood Michael Brodsky (USA) Hans Ulrik Møller ( Denmark) L13 Eye manifestation of Kawasaki syndrome L36 Ocular cystinosis Veit Sturm ( Switzerland) Ingele Casteels (Belgium) L14 Anisocoria: step by step from physiological anisocoria L37 Retinitis pigmentosa and why we should prefer the to severe diseases term inherited retinal degenerations Santa Heede (Latvia/Germany) Birgit Lorenz (Germany) L15 Prediction models for screening, preventive strategies L38 Autosomal-recessive Stargardt disease and its and up-to date treatment of severe ROP phenotypic variability Ann Hellström (Sweden) Kalev Noupuu (Estonia) L16 Risks in ROP screening L39 Coats disease Gil Binenbaum (USA) Arvydas Gelzinis (Lithuania) L17 Severe ROP incidence changes and quality improvement in Neonatal Intensive Care in Latvia in L40 Pediatric eye trauma last 20 years Nadia Bobrova (Ukraine) Dace Sniedze (Latvia) L18 Prevention and treatment of late retinal detachment in patients with ROP Oleg Sinavskii (Russia) L19 Abusive head injury and its management - a practical approach Gil Binenbaum (USA) L20 I Can’t Believe I Did That! Creig Hoyt (USA) L21 Listen, look, think: make diagnoses! David Taylor (UK) L22 Relax He/She is a baby . Creig Hoyt (USA)

25 Lecture abstracts

What could be the EYE-EYE role in Pediatric Ophthalmology?

Hélène Dollfus (France, ERN-EYE)

ERN-EYE, is a network dedicated to Rare Eye Diseases (RED), constituted by 29 healthcare- providers from 13 European Member States and involves high level interactions with patient groups (European Patient Advocacy Groups noticeably) . The network is organized to cover all RED conditions in four thematic groups: retinal RED, neuro-ophthalmology RED, paediatric ophthalmology RED & anterior segment RED . Moreover, six transversal working groups are addressing common issues to the four main themes . The objectives of ERN-EYE are wide, mainly patient-centred, with patients’ diagnosis and care improvement across EU, registry strategy, education and training program and development of guidelines noticeably . The working group dedicated to paediatric Rare Eye Diseases is currently working on all these topics . The setting of a virtual Clinic, EyeClin, to better diagnose and treat patients is the cornerstone of ERN-EYE . EyeClin was built thanks to a Clinical Patient Management System (CPMS) common for all ERNs and provided by the European Commission . In addition we designed a customized eye-dataset to fit ERN-EYE needs specifically. All experts registered have declared their field of expertise to help users to request their help . Each specialty is clearly represented in the system and the paediatric group organizes specific regular meeting to discuss difficult cases. As rare eye diseases are one of the leading causes of visual impairment of children and young adults in Europe, many of the cases discussed are paediatric . The virtual clinic is an invaluable tool for paediatric ophthalmological cases as they are often interdisciplinary, thus with the CPMS it is easy to contact other specialities covered by other ERNs (ERNICA for inherited and congenital anomalies, ERN ITHACA for congenital malformations and rare intellectual disability, ERN CRANIO for craniofacial anomalies and ear-nose-throat disorders, ERN PaedCan for paediatric cancer to name a few) . The launching of EyeClin will bring expertise to a large number of RED-affected EU citizens and stimulate their participation to initiatives generated or recognized by ERN-EYE such as nourishing registries, empower research, stimulate trials . Our communication tools are findable on a dedicated website www.ern-eye.eu.

26 Lecture abstracts

ERN-EYE from patient representative perspective

Christina Fasser (Switzerland, ERN-EYE)

Rare eye diseases are per definition individually rare or ultra-rare, however as a group they are numerous . Faced with a rare eye condition, mostly being not treatable, affected persons or parents are shocked, stricken with misbelief, denial, grieve and incertitude . Especially in children, diagnosis may take time . For many patients still, the pathway to accurate diagnosis is long . Specialists in many countries are rare or patients do not know how to get an appointment . Many of these rare eye diseases have a genetic background raising the question of the risk for the other children in a family . Access to genetic diagnosis is not given in all European countries and in many instances is not reimbursed . There is the hope and expectation that the network of the ERN EYE will provide the families with accurate diagnosis in shorter time making use of the knowledge of specialists in other countries. Parents have often to take difficult decisions on behalf of their children . To do so they need to know the options available . Furthermore, an early and precise diagnosis opens the way to effective early education and habilitation and thus preserving the best educational options for the affected children . What is true for young children is even more true for adolescents or young adults confronted with the fresh diagnosis of a rare eye disease . Within Europe there is a good knowledge and expertise to diagnose and whenever possible, to treat people with rare eye disease . The right to eye health should not depend on the pure coincidence of the residency of the persons affected . Thus, ERN Eye will hopefully provide a step to a more equal Europe for all .

27 Lecture abstracts

Classification, ontology & paediatric ophthalmology — seeking the right term for a clinical presentation

Panagiotis Sergouniotis (UK, ERN-EYE)

For centuries, humans have sought to classify diseases based on observations and available therapies. Recently, a variety of resources that aim to improve classification have emerged (including nomenclatures like ICD and SNOMED CT) . Ontologies are computational tools that include sets of vocabulary terms arranged in hierarchical (tree) structures. They provide a robust foundation of logic for precise stratification along diverse axes such as aetiology, genetics and development. This paper will we discuss the rise of ontologies in biomedicine and will provide a practical overview of how they can be used in day-to-day practice . Recent work of the ERN- EYE on developing the ophthalmology-related component of two well-established biomedical ontologies, the Human Phenotype Ontology (HPO; includes signs, symptoms and investigation findings) and the Orphanet Rare Disease Ontology (ORDO; includes rare disease nomenclature/ nosology) will be discussed. The potential of these resources to facilitate data sharing and to transform both routine care (e g. . by integration in electronic patient records) and research (e.g. recording clinical data in registries) will be highlighted.

28 Lecture abstracts

CPMS – Panel in Practice

Laura Mauring (Estonia/France, ERN-EYE)

The Clinical Patient Management System (CPMS) or virtual clinic is a web-based application created to facilitate the information exchange between experts of the European Reference Networks for Rare Eye Diseases (ERN-EYE). It was created for the ERN-EYE with a specific dataset for ophthalmological disease . The aim of this presentation is to demonstrate the CPMS and its eye-specific dataset and to show in practice. To get help with managing a specific patient, the clinician has to upload the case using a thorough dataset available on the web application that was worked out by the experts in the field. By enrolling a patient on the application, the physician opens a new panel to share the case . The enrolling physician will be designated as a panel lead . Then a panel consisting of different experts can be invited together . The panel is divided into different steps and the panel lead is responsible of the management of its workflow. A discussion of the case can take place live using a videoconference tool integrated to the system or by chat commenting the case on the application . In addition to this, an imaging viewer tool is integrated that allows the user to modify the medical image directly on the application . At the end of the panel, an outcome document will be produced consisting of medical advice of panel members . This outcome is a recommendation for the treating physician . The CPMS has been shown to be especially valuable to manage the cases that cause visual impairment in children and young adults as this age group is often touched by a rare eye disease . It is also the only application in Europe that has the power of easily accessing experts all over Europe. It is worth its first idea – the knowledge travels, not the patient. Having an opinion on a complex or rare case abroad has been made accessible both for the patient and the physician .

29 Lecture abstracts

Aqueous humor invasion in retinoblastoma: dissecting tumor cell itinerary and defining conservative therapeutic strategies.

Francis Munier (Switzerland)

Aqueous humor invasion in retinoblastoma at presentation (primary aqueous seeding) or occurring during conservative treatment (secondary aqueous seeding) is usually followed by immediate enucleation . Adjuvant systemic chemotherapy is commonly not indicated in this context since anterior segment involvement is not considered a high risk factor for metastasis . The recent introduction of a safety-enhanced technique for intracameral chemotherapy injection is now offering a therapeutic approach for selected cases of retinoblastoma with aqueous seeding, where disease exteriorization can be excluded and where a visual potential is expected . Ultrasound biomicroscopy (UBM) is mandatory to diagnose and document any concomitant anterior uveal involvement and/or tumor extent in the posterior chamber . Cytopathology analysis of the anterior chamber tap performed prior the intracameral injection should be used to monitor the treatment response . Intravitreal chemotherapy should be additionally performed to prevent cross-contamination of the different eye compartments . Any other concomitant source of active disease must be adequately treated (intra-arterial chemotherapy for retinal and/or iris invasion and brachytherapy for ciliary body invasion) . In a retrospective analysis of all consecutive cases of retinoblastoma with aqueous invasion treated according to the above-mentioned recommendations in Lausanne between 2011 and 2018, spontaneous aqueous seeding was associated with a significantly better globe preservation rate compared to iatrogenic aqueous seeding (83%, n=10/12 vs 25%, n=1/4 respectively, p<0 03). at a median globe-salvage follow-up of 1 7. years (range 0 4-6. 8). . There were no deaths nor metastasis at a median follow up of 2 1. years (range 0 4-6. .8) .

30 Lecture abstracts

Orbital Masses in Children

Geoffrey E . Rose (UK)

Children are different from adults in several important ways -- but especially as (a) there is still a significant tissue activity (with organogenesis, and many pleuripotent cells still active), (b) there are various structural susceptibilities in the childhood orbit, and (c) children mount a more aggressive inflammatory response to any process. In children, tumour-like masses can arise from structural anomalies, inflammatory masses, and neoplastic processes -- and examples of all of these masses will be presented . The commonest structural anomalies that present as a mass in childhood are dermoid or epidermoid cysts, and some cases these can be “partial” (open to the skin), on the ocular surface, within the levator/superior rectus complex, or buried deeply within the orbit or periorbital tissues . Other developmental masses may be solitary, such as heterotopic brain, or arise as part of a clefting syndrome. Neurofibromatosis may present as a mass within the eyelids or orbit. Inflammatory masses may result from idiopathic inflammatory diseases or from specific processes, such as granulomatous polyangiitis. However, remember the mantra “inflammation is a tissue response and not a diagnosis”: it is not uncommon for childhood malignant tumours to present with mild inflammatory signs and symptoms. Benign and malignant tumours of childhood can present in various ways and some -- such as neuroblastoma -- can have an enigmatic clinical course . Rhabdomyosarcomas typically do not involve the muscles, often look well-defined on imaging, and may therefore be interpreted as a benign mass; the history of a rapidly progressive proptosis -- especially if accompanied by inflammatory signs -- should always be regarded as rhabdomyosarcoma until proven otherwise.

31 Lecture abstracts

Surgical approach to orbital lymphangioma

Karla Chaloupka (Switzerland)

Objectives: Orbital lympho-venous malformations are difficult to treat. We compare the surgical and sclerosing therapy followed by surgery and present a new surgical approach to orbital lymphangiomas .

Methods: A retrospective case series of all patients from the authors’ practice from 2007-2017 . Primary surgical approach was chosen using tissue gel to form each single cystic lesion before excision . The results were compared to secondary surgical approach after failed sclerosing therapy .

Results: 16 patients were operated, half of them after primary sclerosing therapy . Seven of eight patients with primary surgical approach were recurrence free . Two patients with sclerosing therapy needed an emergency decompression to prevent visual loss . All secondary surgeries were more demanding due to scar tissue, in four cases followed by recurrences . Conclusions: We demonstrate a primary surgical approach to orbital lymphangiomas allowing a safe approach to these lympho-venous orbital malformations with minimal risk for complications and recurrence .

32 Lecture abstracts

Can betablocker drops be enough for deep infantile hemangiomas?

Göran Darius Hildebrand (UK)

Infantile hemangiomas (IH) are the most common benign tumour in infancy, affecting between 1-4% of all infants, girls 3-5 times more often than boys and 23% of preterm babies of less than 1,000g birth weight . Until 2008, local or systemic steroids were the main treatment form for IH, but frequently at the price of significant side-effects. Following the serendipitous discovery of the therapeutic effects of beta-blockers, systemic propanolol has become the first-line treatment in severe or complicated IH . Since then, clinicians have begun to use topical beta blockers, in particular timolol maleate 0.5% gel forming solution, with good therapeutic effect, but fewer adverse reactions. Topical beta blockers are now used for lesions with both deep and superficial components and those that are amblyogenic . When initiated in the proliferative phase of the lesion, the effectiveness of the treatment can be seen within weeks . Several illustrative cases of deep periocular and orbital involvement will be presented as well as the first immunohistochemical and electron microscopical findings of topically treated IH.

33 Lecture abstracts

Lessons to learn about paediatric oculoplastic surgery

Artur Klett (Estonia)

The aim of this talk is to give an overview of the most common oculoplastic procedures in pediatric patients . Management of some standard and some rarer manifestations will be discussed . Examples of postoperative results will be given with a discussion on possible complications . One of the key points of the lecture is addressing the question of when to operate and when to wait . Since children are always treated in cooperation with their parents, the familys’ role in decision making will also be considered .

34 Lecture abstracts

L10

Orbital reconstruction after enucleation and rtg th.

Christoff Hintschich, (Germany)

Orbital socket surgery usually refers to secondary reconstructive procedures in acquired anophthalmos in order to improve the fitting of an artificial eye and the aesthetic appearance of a patient who has lost his eye . It also includes surgical measures after enucleation to built up the possibly best conditions for prosthetic rehabilitation, mainly using primary orbital implants .

Acquired anophthalmos very rarely can be post-traumatic but usually is caused by surgical removal of an eye . Indications for enucleation include malignant intraorbital tumours, painful blind eyes and phthisical or buththalmic eyes, which are an aesthetical problem and cannot be improved otherwise .

Early enucleation in childhood does cause fewer problems in regard of bony orbital maldevelopment than generally anticipated. Facial asymmetry is definitely much smaller than usually assumed without negative clinical relevance - in contrast to congenital anophthalmos . In case of necessary enucleation in young children both parents and paediatricians can be reassured, that there is no threat for the bony orbital development and no obvious facial maldevelopment will be induced . But, like in adults, soft tissue volume replacement by orbital implants is always mandatory .

The best prophylaxis to avoid further reconstructive socket surgery is the primary insertion of an orbital implant with any enucleation . Nowadays alloplastic spherical implants are used, which can be made either of solid or porous materials. They both have to be covered to facilitate extraocular muscle fixation and to reduce surface roughness in porous materials . Particularly in children it is preferable to insert a primary dermis-fat graft (DFG), which is a fully autologous implant and does combine excellent compatibility with a gain of conjunctival lining and good aesthetic and functional results .

However, acquired anophthalmos can be complicated by the clinical features of an extruding orbital implant, a “contracted socket” or a “post-enucleation socket syndrome” (PESS) . The latter is an unpleasant condition characterized by the presence of an enophthalmos of the artificial eye, an upper sulcus deformity, a lower eyelid sagging, and an upper eyelid malposition with retraction or ptosis and tilting of the prosthesis. Its causes are usually a variable degree of orbital soft tissue volume deficit and structural deformities in the socket .

In cases of soft tissue and conjunctival lining deficiency due to scaring and shrinkage, a “contracted socket” can develop. This severe condition makes fitting and wearing an artificial eye difficult oreven impossible. Often volume and conjunctival deficiency are combined, resulting in difficult sockets with the typical appearance of PESS in conjunction with inadequate prosthesis fitting due to a contracted socket.

Orbital reconstructive socket surgery includes a variety of surgical procedures, which are mainly implemented to either substitute orbital volume or to augment socket conjunctival lining . This includes the replacement of orbital volume by insertion of secondary orbital implants, which can be both alloplastic or autologous . In addition, mucous membrane grafting into the fornices can reconstruct the socket architecture and improve prosthesis fitting. Finally, lid malpositions like upper and lower eyelid entropion, lower eyelid laxity or acquired ptosis can be corrected by means of classical eyelid procedures, including Jones entropion repair, lateral tarsal sling procedure or anterior levator resection ptosis repair . However, for good aesthetic and functional results, a close cooperation with the ocularist is not only desirable but mandatory .

35 Lecture abstracts

L11

Intracranial hypertension in children

Klara Landau (Switzerland)

In this presentation the topic of intracranial hypertension in children will be discussed with a focus on distinguishing normal from increased intracranial pressure and determining the etiology of intracranial hypertension in a child (idiopathic vs . secondary causes) . Recommendations for optimal management, once the correct diagnosis has been established, will be presented . Cases to illustrate the topic will be shown and the newest literature in the field will be reviewed.

36 Lecture abstracts

L12

A Unifying Neurological Mechanism for Infantile Nystagmus

Michael Brodsky, (USA)

Purpose: To propose a neurological mechanism of infantile nystagmus and explain its typical onset at two to three months of age . Methods: Evolutionary analysis of the cortical and subcortical optokinetic systems to explain the clinical characteristics of infantile nystagmus . Results: Lateral-eyed animals use the subcortical accessory optic system to generate accurate responses to full-field optokinetic input. When humans rotate their eyes to pursue a moving target, the visual world sweeps across their retinas, creating a contraversive optokinetic stimulus . Humans have developed a cortical foveal pursuit system that suppresses the perception of this full-field optokinetic motion during active pursuit. When foveal vision is slow to develop in infancy, this phylogenetically old optokinetic system, which is normally operative in the first two months of human life, continues to be ontogenetically expressed. The incursion on cortical pursuit of the antagonistic motion stimulus from this subcortical optokinetic system facilitates development of the unstable oscillatory activity of the eyes that characterizes infantile nystagmus . This mechanism explains the pendular nature of infantile nystagmus, the “reversed” optokinetic nystagmus that accompanies it, and the delayed age of onset which coincides with the maturation of the cortical pursuit pathways in humans . Conclusion: Infantile nystagmus represents an optokinetic “tug-of-war” between the phylogenetically new cortical pursuit system which relies on foveal input, and the phylogenetically old full-field afoveate optokinetic system that is mediated by the subcortical AOS.

37 Lecture abstracts

L13

Eye manifestation of Kawasaki syndrome

Veit Sturm (Switzerland)

Kawasaki disease (KD) is associated with systemic vasculitis, affecting predominantly medium- sized arteries. It was first described by Kawasaki in 1967. The disease has a world-wide distribution with an ethnic bias towards Asian children . It occurs with a peak age incidence at 18-24 months, approximately 85% of affected children are younger than 5 years of age . The aetiology of KD remains unknown . In developed countries it is the most common cause of acquired heart disease in children. Ocular manifestations in KD are commonly limited to the anterior segment . Patients typically have bilateral nonexudative conjunctivitis . Less common an anterior uveitis can also occur . Very rarely, the eyes are more severely affected . A few cases only with posterior segment lesions have been reported in KD .

38 Lecture abstracts

L14

Anisocoria: step by step from physiological anisocoria to severe diseases

Santa Heede (Latvia/Germany),

Pupil examination and interpretation in infants can be challenging . The knowledge of the pupillary pathways anatomy is crucial for finding the lesion spot responsible for anisocoria . There is the sympathetic nervous system which is responsible for opening the pupil and works best in darkness . And there is the parasympathetic nervous system which is responsible for closing the pupil and prefers working in the light . The pupil itself can be out of order, too . This may cause anisocoria or an oddly shaped pupil although the sympathetic or parasympathetic systems are working perfectly. With step by step examination it is easy to find one of those three problems that may cause anisocoria . Besides finding the lesion spot interpretation and connection with other severe andrare pathologies is another important point . Disturbances in sympathetic pathways may hint at neuroblastoma or ganglioneuroma . Disruption in the parasympathetic pathways may be caused by classic third nerve palsy or some rare diseases like the Miller-Fisher syndrome or orbital tumors . Iris abnormalities are very often associated with systemic diseases . Gene mutations play an important role and may indicate the presence of Wilms tumor . Supranuclear disorders of pupillary pathway cause bilateral abnormalities of pupil reaction . It is very important to keep in mind the link to midbrain syndrome or hydrocephalus!

39 Lecture abstracts

L15

Prediction models for screening, preventive strategies and up-to date treatment of severe ROP

Ann Hellström (Sweden)

Severe retinopathy of prematurity (ROP) is a two phase disease. In the first phase, starting at birth, oxygen exposure increases abruptly and the nutrient supply becomes insufficient. Angiogenesis, which is stimulated by relative hypoxia in the retina and other organs, slows down and already formed vessels are lost . The second phase is characterized by catch up growth and retinal hypoxia due to impaired vascularization . Uncontrolled neovascularization may lead to retinal detachment and blindness . Current treatment targets proliferative ROP but since any ROP is associated with smaller brain size and impaired neurodevelopmental outcome, prevention of all ROP is desirable . Individualized prediction models Today there are several prediction models available mostly using neonatal data such as birth characteristics, weight development, transfusions etc . A newly developed model “DIGI-ROP” based on only birth characteristics will be presented and compared to existing models . Prevention of the first phase of ROP

Oxygen After birth, promotion of normal neurovascular development may prevent ROP by avoidance of hyperoxia and oxygen fluctuations. The application of an oxygen saturation SpO2 target of 90-95% has led to increased ROP rates in many settings . It is well known that alarm levels are often set to high, that SpO2 above target is common and that SpO2 >93% is associated with hyperoxia (PaO2 >80mm Hg) . Education, strict oxygen control with alarm limit close to 95% and titration algorithms preventing large oxygen fluctuations can reduce ROP .

Nutrition Most infants at risk for ROP have extra-uterine growth retardation, low serum IGF-1 and a need for parenteral nutrition . Currently provided solutions lack many of the ingredients that are normally transferred from the mother during the third trimester and during breastfeeding . Early human milk feedings decrease ROP risk and promotion of breastfeeding may prevent ROP . Experimental and human studies indicate that fish oil containing the omega-3 long chain polyunsaturated fatty acid (LCPUFA) docosahexaenoic acid (DHA) reduces severe ROP . Most lipid solutions for intravenous use lack DHA which is normally selectively transferred from mother to fetus during the third trimester and important for retina and brain development as well as for metabolism . Supplementation with Omega-3 LCPUFA may suppress the omega-6 LCPUFA arachidonic acid (AA) which plays important roles in the vasculature . At present, a study of supplementation with both DHA and AA to prevent ROP and other morbidities in extremely preterm infants is conducted . Prevention of progression in the second phase of ROP

Oxygen There is evidence that, in the second hypoxic phase, higher oxygen saturation reduces the progression to proliferative ROP .

40 Lecture abstracts

Beta receptor blocker Systemic propranolol has the potential to decrease progression to proliferative ROP but with serious adverse effects . Treatment of sight threatening ROP

Laser Diode laser photocoagulation of sight threatening ROP is the gold standard treatment . It destructs the avascular retina and induces regression of neovascularization in most cases . Treatment may need to be repeated in the neonatal period . There is life-long increased risk of retinal detachment and other ocular complications .

Anti-VEGF In recent years off-label intravitreal injections of bevacizumab an anti-vascular endothelial growth factor (VEGF) anti-body has increased in popularity despite lack of studies on dosage, pharmacokinetics and safety . Bevacizumab causes rapid regression of neovascularization . However, recurrences are common and may occur after several years . Most importantly, bevacizumab escapes the eye and suppresses serum VEGF for months at a stage of intense neurovascular development with unknown consequences for the development of the brain and other organs . At the age of two years, which is too early to assess effects on cognition, no difference in neurodevelopmental outcome and a threefold increased incidence of severe neurodevelopmental disability after bevacizumab versus laser have been reported . Ranibizumab is an alternative with shorter half-life . Studies on both substances are underway .

41 Lecture abstracts

L16

Risks in ROP screening

Gil Binenbaumm (USA)

Infants meeting ROP screening guidelines based on birth weight and gestational age undergo serial examinations by ophthalmologists for detection and treatment . However, less than 10% require treatment, and less than half develop ROP . Slow postnatal weight gain is highly predictive of ROP, and investigators have incorporated weight gain measures to develop more specific criteria for ROP screening through more accurate risk assessment . Such clinical prediction model use involves a large development study, validation studies specific to the target populations, and ongoing impact surveillance, with adjustment as necessary . Of the many weight gain inclusive prediction models intended to improve the precision of ROP screening, the Postnatal Growth and ROP (G-ROP) modified screening criteria were developed in an initial study using the largest dataset and may provide the most robust model for clinical use . A recently completed second study, the G-ROP validation study, evaluated the generalizability of these modified criteria prior to clinical use . This talk will review these approaches, models, and studies .

42 Lecture abstracts

L17

Severe ROP incidence changes and quality improvement in Neonatal Intensive Care in Latvia in last 20 years

Dace Sniedze (Latvia)

After the fall of communism, the countries of Eastern Europe have experienced political, economic, social and health system transformation . Reforms of healthcare can only be achieved from within the country through dedicated and qualified health care professionals. Many aid programs have helped to build a local neonatal healthcare capacity and improve infrastructure, so the trained workforce is able to apply its acquired knowledge .

The presented lecture attempts to review and evaluate the progress of health reforms in neonatal care in Latvia . Neonatal care has improved markedly during the past decades, resulting in increased survival rates for preterm babies and simultaneously leading to high rates of Retinopathy of prematurity (ROP) around 2000. Advances and quality improvement in neonatal care have significantly decreased the overall incidence of severe ROP during the last decade. Centralized treatment services for very low birth (<1500 g VLBW) infants in regional NICUs provide access to skilled ophthalmologists for diagnosis and treatment .

We have made a retrospective analysis of VLBW infants who were born between 2015 and 2018 and admitted to Children’s University hospital . In Latvia all ROP treatments are performed by one ophthalmological clinic in Children’s University hospital, therefore the incidence of severe ROP for the country can be calculated . Information of any ROP treatment during the 24-36 months follow-up assessment was reviewed . Comparison of severe ROP incidence in VLBW infants in the last decade was performed .

Results . In Latvia 0 7-0. 8%. of newborn infants are VLBW . From 2015 to 2018 there were 452 eligible infants included in this analysis, representing 72 4%. of all VLBW infants born alive in Latvia . The mortality rate up to screening time point at 6 weeks of age was 5% .

For the entire cohort, the overall incidence of any ROP was 11 8%. (51 of 429 patients), and the incidence of severe ROP was 1 1%. (5 of 429 patients) .

When comparing any ROP patients with severe ROP patients the median GA was 26 vs 24 weeks and median BW was 840 g vs 700 g . Severe ROP patients had higher median number of mechanical ventilation days (20 vs 9), noninvasive ventilation days (34 vs 25 5). and any oxygen therapy days (77 vs 45 .5) .

The median age for ROP treatment was 96 days (range 62-125 days) . The follow-up assessment at 24‑36 months showed that 4 (80%) of treated patients had ROP regression, among them 1 patient had unilateral amblyopia and 1 (20%) could not be completely evaluated due to neurological status (possible central vision disorder) .

The rate of severe/treated ROP declined significantly when compared to similar VLBW cohort in the same hospital from 2005 to 2008, representing 75 1%. of Latvian live born VLBW infants at the time period, when the incidence was 24 .3% (124 of 509 patients) . The percentage of extremely low birth weight infants (ELBW < 1000 g) in both cohorts was 30.2% vs. 35.1%.

The incidence of severe ROP in live born VLBW infants in Latvia has declined significantly – from 18.5% between 2005-2008 to 0 .8% between 2015-2018 . Patients who developed severe ROP had a smaller GA, BW and longer time of any oxygen treatment .

43 Lecture abstracts

L18

Prevention and treatment of late retinal detachment in patients with ROP

Troyanovsky R .L ., Sinyavskiy O . A . (Russia)

Introduction: Children with a history of retinopathy of prematurity (ROP) have an increased risk of late retinal detachment (LRD) in the future. We evaluated the efficiency of laser and surgery procedures in prevention and treatment of LRD in these cases . Methods: 34 patients aged 12-52 years (male-13, female-21) with gestation period from 25 to 32 weeks and weight at birth from 900 to 2300 g were observed . In 21 patients with LRD (23 eyes with ROP 2-5th stages in the past) 35 operations were performed, including combined lensvitrectomy or vitrectomy (16), buckling (17), ballooning (2) . 8 patients had “oculus unus” with the presence of light perception in 4 eyes (5 stage), visual acuity 0 001. – hand movement in 3 another eyes (4B-stage) and 0,2 in the last case (4A-stage) before operation . Transpupillary peripheral retinal lasercoagulation was performed in 14 patients without LRD with visual acuity from 0 .03 to 0 .6-1 .0 before procedure . Indications for laser therapy were the appearance of retinal tears, photopsias and complaints of pain in the eye. Follow up period ranged from 8 months to 17 years . Results: After surgery good anatomic results were achieved in 17 cases with retinal reattachment in 12 eyes and with local single retinal folds in 5 another eyes . Rigid retinal folds was observed in the remaining 6 eyes . Improvement of visual acuity (VA) took place in 17 eyes: from light perception before operation till hand moving after surgery in one eye, from 0,01 to 0 05-0,2. in 11 eyes, from 0.02-0.08 to 0.1-0.4 in 5 eyes. In three eyes VA has deteriorated and in three another cases was without change . The best functional results were revealed in patients with laser procedures . Torpid uveitis with iris bloat, secondary glaucoma, hard retinal exudates worsened the visual prognosis . Conclusions: ROP demands of active observation for the patient all his life for prevention of LRD . It’s very important to remember about patient’s birth history and masquerade diseases . Even a little decrease of accustomed vision, photopsias and eye-ache connected with increased vitreoretinociliary tractions may be indications for laser treatment . Timely, persistent and if necessary repeated vitreoretinal surgery allow to stabilize, restore and improve visual functions in the most cases of LRD .

44 Lecture abstracts

L19

Abusive head injury and its management - a practical approach

Gil Binenbaumm (USA)

Retinal hemorrhage is an important sign of potential abusive head trauma in infants . The differential diagnosis of retinal hemorrhages in children includes numerous potential causes, but the retinal hemorrhage pattern and associated findings can help to narrow the list considerably . This talk will cover best practices for retinal examination methods, timing, and documentation; review causes of retinal hemorrhages in young children; distinguish among different patterns of retinal hemorrhages and retinal findings that are specific to trauma or to other causes of retinal hemorrhages; detail important features to consider when evaluating the pattern of hemorrhage, including hemorrhage number, location, and type, and macular findings of retinoschisis, hemorrhagic cyst, and retinal folds; briefly review mechanisms thought to underlie retinal hemorrhages; and summarize a practical approach to performing ophthalmology consultations for young children being evaluated for possible abusive head trauma .

45 Lecture abstracts

L20

I Can’t Believe I Did That!

Creig Hoyt, (USA)

The author will review three areas in which he has regretted his initial diagnoses and/or treatment . These include doing too much in the way of surgery for infantile esotropia and other strabismus conditions, advocating very early surgery for monocular cataracts, and adhering to the notion that metabolic/toxic optic neuropathies are characterized by symmetrical, simultaneous, bilateral central vision loss with central or cecocentral scotomas . He will also discuss certain neuro-ophthalmic conditions that may initially present appearing to be relatively benign conditions . He will conclude by listing a few diagnoses that are rarely correct in his experience .

46 Lecture abstracts

L21

Listen, look, think: make diagnoses!

David Taylor (UK)

Symptoms, Signs & Tests in paediatric Neuro-ophthalmology . Every doctor makes mistakes . NHS clinical negligence claims were £1 6billion. in 2016–17 . Legal costs 2007-7: £77 Million → 2016-17: £487M (England & Wales National Audit Office). This presentation will, with clinical cases, show how often mistakes are made and how to avoid them . These include: •• Learning from mistakes and anticipating further ones . •• The disease “template”: how diseases behave in reproducible, not random progression . •• The importance of taking a simple, understandable history . •• Investigations: how to direct your clinical investigations simply and effectively . •• Revisiting the diagnosis on every review visit .

47 Lecture abstracts

L22

Relax He/She is a baby

Creig Hoyt, (USA)

In the first several months of life one can see eye movements, eye misalignments, and refractive errors that would be of concern in an older child, but are not in a baby . The author will review the natural history, appropriate evaluation and treatment of saccadic eye movement disturbances, paroxysmal downward gaze, and paroxysmal upward gaze in infants . The author then will discuss the occurrence of comitant and paretic strabismus in the first few months of life and the implications this has for treatment of strabismus at a later age . In conclusion the author will consider when, if ever, glasses are indicated in infants .

48 Lecture abstracts

L23

Inventory of vision screening programmes across Europe.

Sandra Valeina, Mandy Nordmann, Jill Carlton, Helen Griffiths, Paolo Mazzone, Huib Simonsz for the EUSCREEN Foundation* *The EUSCREEN foundation consists of Representatives of the 41 countries in Europe

Purpose . EUSCREEN study compares the cost-effectiveness of paediatric vision and hearing screening programmes to develop a cost-effectiveness model for introduction, modification or disinvestment of paediatric vision and hearing screening programmes . Methods . Data collection by questionnaires from 41 countries in Europe (2017-2018), validation and verification of the collected data, development of cost-effectiveness model (2017-2019), implementation of vision screening in Romania (2018-2019) . Results . Data provided by Country Representatives from 41 countries in Europe and from China, India, Malawi, Russia and Rwanda . Questionnaire included: 1 . Demography and epidemiology; 2 . Administration and general background; 3 . Existing screening systems; 4 . Coverage and attendance; 5. Tests; 6. Follow-up and diagnosis; 7. Treatment availability; 8. Cost and benefit; 9. Adverse effects . 42 reports on vision screening were made . Conclusion . More than 20 different visual acuity charts are used and more than 15 different professions screen across Europe . In 40 of 42 European countries VA is measured at least once . Quality of screening programmes is often not monitored sufficiently. This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 733352

49 Lecture abstracts

L24

Pros and cons in the development of a guideline for Eye-screening in the Netherlands.

Nicoline Schalij- Delfos (Netherlands)

Goal: Presentation of the choices made in the process of development of a national guideline for detection of amblyopia and ophthalmological disease in the Netherlands . Introduction: For decades, Dutch children have been screened in youth health centers eight times, from 1 month until 7 years of age, in order to detect amblyopia and serious eye disease in time . Over the past few years health care savings resulted in random omission of screening moments, preferably those that are most time consuming: visual acuity (VA) testing at 3, 4 or 5 years . As amblyopia is best detected by measuring VA, an evaluation of the current guideline focusing on the most effective program for screening was inevitable . Methods: after an analyses of pressure points experienced by professionals executing the current guideline, a working group was installed in which all disciplines involved in eye-screening participated . A systematic review by Cochrane Netherlands was performed focusing on key questions like: what is the best age to effectively perform a VA test, what is the ultimate age to do this in order to be able to treat amblyopia in time, what is the best test in relation to age, which tests should be used to detect strabismus and other relevant eye disorders etc . A search was performed in Cochrane Library, Medline and Embase databases . Outcomes combined with expert opinion resulted in a balanced guideline that will be brought into use in the coming months . Results: Quality of most evidence was low. The most relevant findings are presented. Detecting congenital cataract with the red fundus reflex is cost effective when 3 infants / year are detected. Apart from that other serious diseases such as retinoblastoma can be detected. Therefore, the red reflex will be checked at 1, 2 (if not performed at 1 month) and 3 months of age . The corneal light reflex to detect disorders in eye alignment and monocular pursuit (as indication of difference in VA in preverbal children) has a high sensitivity and specificity. In contrary pupillary light reflex, covertest and eye motility had a low sensitivity and specificity. Most strabismus is detected by parents or others in between screening moments. An observational study (Sami 2014, Sloot 2017) in 239 children, 0-24 months of age, at the well-baby clinics showed that the obligatory pupillary light reflex was performed in 14% (58% incorrect), covertest in 65% (37% incorrect) and eye motility in 68% (93% incorrect). In the new guideline only corneal light reflex, monocular pursuit and shift in fixation while covering will be performed at ages 6-9 and 14-24 months . No evidence was found that detection and treatment of amblyopia before school age was more effective compared to detection at 4-5 .5 years of age . A trend for more reliable testing of VA with age is found in all studies . A high rate of failed visual acuity testing at 36 months of age was found by several studies, improving to 90-95% successful tests at 42‑48 months. Therefore, visual acuity testing at 36 months of age is abandoned but it is obligatory at 42-28 months and 54-66 months of age . In the Netherlands the E-chart is used with LEA-symbols as backup chart . Conclusion: A guideline focusing on timely detection, diminishing the burden of screening for children as well as professionals, based on systematic review and expert opinion and considering health care costs will be implemented shortly . Sami, A ., Karaman, H ., Sloot, F ., Sjoerdsma, T ., Benjamins, J ., Simonsz, H .j . Quality of eye screening examinations at Child Health Centers in the Netherlands assessed by semi-structured observations . Investigative Ophthalmology & Visual Science April 2014, Vol .55, 432 . Sloot, F ., Sami, A ., Karaman, H ., Benjamins, J ., Gutter, M ,. Sjoerdsma, T ., Simonsz, H . J . (2017) . Semi-structured observation of population-based eye screening in the Netherlands . Strabismus Journal . Becker R, et al . Examination of young children with LEA symbols . Br J Ophthalmol 2002 . 86:513-16 . Telleman, M ., Sloot, F ., Benjamins, J ., Simonsz, H .J . (2017) High rate of failed visual acuity measurements in screening at the age of 36 months . Acta Ophthalmol . 2019 Feb;97(1):24-28 . doi: 10 1111/aos. 13898. . Engin, O ., Despriet, D . D ., van der Meulen-Schot, H . M ,. Romers, A ., Slot, X ,. Sang, M . T ., Simonsz, H . J . (2014) . Comparison of optotypes of Amsterdam Picture Chart with those of Tumbling-E, LEA symbols, ETDRS, and Landolt-C in non-amblyopic and amblyopic patients . Graefes Arch . Clin Exp Ophthalmol, 252(12), 2013-2020 .

50 Lecture abstracts

L25

Eye screening for children in Germany

Oliver Ehrt (Germany)

The importance of vision / amblyopia screening is evident. The difficulty is to determine when and how to screen – and who should do the screening . ROP-screening is well established and rather uniform across Europe . Amblyopia screening however isn’t . In Germany the political decision was to have the paediatricians do the eye screening during their well-child clinics . In each of the 9 visits from birth to 6 years of age, eye exams have been included, some useful some not: •• inspection (glaucoma, ptosis, leukocoria) and search for nystagmus starting in the first week of live •• the red light reflex (cataract) has to be checked from the first week until 6 months •• fixation and the Brueckner test (strabismus, ametropia) are included as early as 3 months until 2 y •• assessment of the pupils and abnormal head position start at age 1y •• visual acuity, random dot stereopsis and corneal reflex have to be examined from age 3y. Recommendations from paediatric and ophthalmological societies differ from the legal requirements it that they recommend ophthalmic examinations including cycloplegic refraction for all children with a high risk (family history, general retardation, syndromic and ex pre-term children) at age 6-12 months and for all children at age 2-3y . Some health insurance companies follow these recommendations . Some paediatricians supplement their examination with videorefractometry . It is essential to detect small angle strabismus preferably by random dot stereotests or Brueckner test and to avoid over-referral in ametropia . Thus thresholds should be set high to detect severe ametropia before age 3y and to detect borderline refractive errors with amblyopia at age 4 by visual acuity testing .

51 Lecture abstracts

L26

Deprivational Amblyopia

John Sloper (UK, USA)

Deprivation amblyopia is uncommon and occurs when visual input to an eye is blocked, most commonly by a cataract, ptosis or a lid haemangioma . This both deprives the eye of visual input and disrupts binocular function. It has a reputation for being difficult to treat. Because visual development is a complex ongoing process, the anatomical and physiological abnormalities that visual deprivation produces in the central pathways of animal models differ with the age of onset and duration of the deprivation and the interactions between the deprived and fellow eye visual pathways are different at different ages . Deprivation also has different effects on the magnocellular and parvocellular pathways and these also vary with age . The requirements for recovery of these central changes are different with deprivation started at different ages and may be affected by binocular status .

52 Lecture abstracts

L27

CVI- what could be the role of ophthalmologist ?

Niranjan Pehere (India)

CVI is a complex challenge, involving multiple therapists on different aspects for the child . In this cobweb of complexity, what exactly is the role of an ophthalmologist and to what extent, is the question . In this talk, I have divided what an ophthalmologist can contribute as : “must do”, “good to do”, “ideal to do”, based on the level of interest and resources available for the ophthalmologist in his/her setting. on our experience in India.

53 Lecture abstracts

L28

Paediatric Cataract and Systemic Disease

Ian Christopher Lloyd (UK)

Although cataract in childhood can arise from trauma, maternal infection during pregnancy and intrauterine exposure to teratogens, most bilateral paediatric cataracts have a genetic basis . The majority are inherited via a mendelian pattern . Unilateral cataract is largely idiopathic . Inherited cataracts have four main categories: 1. Isolated congenital cataract 2. Cataract with other ocular abnormalities 3. Cataract in association with a multisystem disorder 4. Cataract associated with metabolic disease I will discuss the latter two categories and describe the clinical presentation of important conditions associated with cataract. A modified approach to diagnosis will be presented.

54 Lecture abstracts

L29

What we can learn from IATS and IOLu2

Ameenat Lola Solebo*, on behalf of the British Congenital Cataract Interest Group (UK)

Primary IoL implantation for congenital / infantile cataract has been widely adopted, despite the increased risk of secondary procedures, and uncertainties regarding visual benefit. We describe the current state of play, using the highest level evidence currently available: •• The Infant Aphakia Treatment Study (IATS), a randomised controlled trial of aphakia versus primary IoL implantation in children aged under seven months with unilateral cataract •• The UK and Ireland primary IoL implantation in children under 2 years old with congenital and infantile cataract (IoLunder2) study, a population based prospective inception cohort study of children aged under 2 years undergoing unilateral or bilateral cataract surgery with and without IoLs in the first two years of life IATS suggests that IoL implantation confers an increased risk of complications without any visual benefit or protection from glaucoma. The IoLunder2 cohort study, undertaken after IoL implantation had been adopted by most UK paediatric cataract surgeons, suggests the absence of benefit, and risk of harm with IoLs in children aged two years and under, including those with bilateral cataract who represent the majority of the clinical population, and those at greatest risk of blindness . Primary IoL implantation cannot be recommended as routine practice for children aged under two years old with congenital and infantile cataract . Younger age at surgery remains the key prognostic factor for good vision, underscoring the importance of maintaining or instituting newborn / infant screening programmes to ensure early detection of disease . IoLunder2 also provides information on the spectrum of disease for children with operated cataract, and the predictors of adverse outcomes following surgery .

55 Lecture abstracts

L30

IOL implantation under 2 years of age

Nikolas G . Ziakas (Greece)

IOL implantation for congenital and paediatric cataract under two years of age remains controversial. The aim of this lecture is to provide sufficient evidence to support that implantation of IOL in this age group is safe and efficient provided all preoperative and intraoperative measurements are meticulously taken .

56 Lecture abstracts

L31

Lesson from paediatric cataract management in Sub-Saharan Africa

Richard Bowman (UK)

Cataract is now the leading cause of blindness in children in Sub Saharan Africa . We review some of the clinical, surgical and public health challenges and visual outcomes . Having shown that late presentation is a major problem and explored some practical strategies to address this (training at all levels of the health service, health education and awareness, outreach programmes) we present new data on novel red reflex screening including sensitivity, specificity and feasibility of integrating this into existing child health problems . We then present further new data on causation of congenital cataract in Tanzania from a case control study, showing that congenital infection is a significant cause. Implications for screening and vaccination are explored. Finally we present up to date visual outcomes from one of the few prospective studies to be performed in this region. We conclude that a comprehensive strategy of primary, secondary and tertiary prevention is required to address paediatric cataract in SSA .

57 Lecture abstracts

L32

European Registry of Childhood Cataract (EuReCCa)

Marie-José Tassignon on behalf of the Steering workgroup (Darius Hildebrand, Alf Nyström, Luc Van Os, Dick Mor, Mats Lundström)

Aim: The general objective is to set up the first European Registry for Paediatric Cataract with the aim to improve surgical outcome in infants and children by providing a European foundation for quality assurance and analysing unexpected treatment and outcomes The specific objectives are to understand the process of emmetropization in children with unilateral cataract/bilateral cataract; to define visual outcome and complications in large cohort; to identify risk factors for main complications during or after surgery, to compare the outcome using different surgical techniques, to study the impact of IOL versus aphakia, to define testable working hypotheses for future randomized controlled trial (RCTs)

Methodology: The core methodology for the development of the EURECCA will consist of collection, storage and analysis of data and dissemination of analysis across Europe and international medical congresses . The data base format will be based on the currently existing EUREQUO form and the Swedish Paediatric Cataract Surgery (PECARE) . The establishment of the registry will foresee the following steps: •• Evaluation of variable for the EU registry •• Data collection •• Validity of data and development of coding guidelines •• Data output using standardised reports •• Data analysis

Results: Two major outcomes are expected: Participating clinics will be able to generate reports based on data supplied to the register and compare their outcomes to the entire registry . Data analysis out of which answers can be delivered on the specific objectives (emmetropization mechanisme, outcome per surgical technique, precision of IOL calculation,…)

58 Lecture abstracts

L33

Congenital glaucoma update

Manca Tekavčič Pompe (Slovenia)

The first part of the talk will highlight the WGA (World Glaucoma Association) definition of congenital glaucoma . In the second part of the talk some of the important recent papers in the field will be presented and discussed . The third part will consist of some surgical videos of congenital glaucoma management .

59 Lecture abstracts

L34

Aniridia update in management

Dominique Bremond-Gignac (France)

Congenital aniridia consists in a complex malformation of the eye with congenital absence of iris . Aniridia is a rare panocular disorder affecting, beyond iris, cornea, angle structures, lens and fovea, and possibly associated with other anomalies . This genetic rare disease can cause severe visual impairment occurring from various mechanisms as glaucoma, limbal insufficiency and foveal hypoplasia . PAX6 gene is mainly involved in the disease . We aim to understand the features of patients with congenital aniridia, identifying the characteristics phenotypes of the disease and its associated anomalies . We analyse our 291 patients’ cohort who underwent a complete ocular examination with ophthalmic exploration and who had genetic molecular analysis. Specific analysis of each ocular feature (as aniridia-related keratopathy, glaucoma, cataract, foveal hypoplasia, optic nerve hypoplasia and other features) is detailed with early clinical signs that can be observed . These clinical complications have to be evaluated before prescribing the treatment . In addition as aniridia presents panocular anomalies, it needs to integrate these factors. Initially when limbal insufficiency begins at the periphery of the cornea lubricants preservative free to protect ocular surface and especially cornea . As cataract is a classical complication of aniridia however the surgery must be performed the latest because of surgery complications as anterior segment fibrosis. Glaucoma treatment needs, except in congenital glaucoma, medical treatment and then glaucoma surgery . Other anomalies as foveal hypoplasia will not be cured, however needs a specific evaluation to adapt school learning. An evaluation of risk factors is required for the follow-up of aniridia patients in order to get a better therapeutic orientation .

60 Lecture abstracts

L35

Corneal dystrophties in childhood

Hans Ulrik Møller (Denmark)

This talk describes the author’s 30 years of experience on how to address a patient with a suspected corneal dystrophy. It is described why most ophthalmologists find the topic difficult and how to interpret the literature where - unfortunately - most text books do not offer sufficient help. The newest survey available to download for free: IC3D classification of corneal dystrophies-- edition 2 . Cornea . 2015 Feb;34(2):117-59 . doi: 10 .1097/ICO .0000000000000307; visit the homepage of the American Cornea Society .

61 Lecture abstracts

L36

Ocular cystinosis

Ingele Casteels (Belgium)

Cystinosis is a rare autosomal recessive disorder characterised by excessive intracellular cystine accumulation . The incidence of cystinosis is approximately 1 in 100,000 to 1 in 200,000 live births . The three clinical subtypes of cystinosis are infantile/early onset nephropathic cystinosis (INC), juvenile/intermediate/late-onset nephropathic cystinosis, and ocular/non-nephropathic cystinosis . These subtypes differ based on the age at diagnosis and severity of the disease . INC is the most frequent type of cystinosis, accounting for up to 95% of cases . Excessive deposition of cystine crystals causes tissue damage in multiple organs, including the kidney, eyes, pancreas, liver, thyroid, muscles and eyes . In all three subtypes of cystinosis, cystine crystals accumulate in the cornea leading to photophobia, keratopathies and corneal erosions . Crystal deposition has also been identified in other ocular structures such as the conjunctiva, iris, retina and choroid, ciliary body and the optic nerve . The mainstay of cystinosis treatment is the cysteine-depleting aminothiol cysteamine or mercaptoethylamine, that induces a thiol-disulfide interchange reaction generating cysteine and cysteine-cysteamine, which exit the cells using alternate transporter systems . Long-term cysteamine therapy effectively alleviates the symptoms of cystinosis with increased life expectancy in patients when maintaining compliance . However, oral cysteamine is not effective in the treatment of corneal cystinosis as it may not reach the cornea in required concentrations due to the absence of a vascular supply . Cysteamine eye drops and gel have been formulated to address this issue and are reported to improve ocular symptoms in patients with cystinosis .

62 Lecture abstracts

L37

Retinitis pigmentosa and why we should prefer the term inherited retinal degenerations

Birgit Lorenz (Germany, ERN EYE)

Retinitis pigmentosa RP is still popular to describe progressive degeneration of rods and cones with more severe or earlier decline of rod versus cone function, also classified as rod-cone- dystrophies RCDs . In recent years the term IRDs, inherited retinal degenerations or inherited retinal diseases, has become popular . This talk will give examples why IRDs are a more universal term, encompassing early forms such as Leber congenital amaurosis LCA, early onset severe retinal degenerations EOSRD, and so-called typical RP, but also cone-rod-dystrophies CRDs . The traditional separation into RCDs and CRDs can be misleading as mutations in some genes may be associated with both, RCD or CRD . Also, mutations in some genes may lead to LCA, EOSRD, or RP, indicating that there may be a continuum due to differences in age of onset but not due to basically very different disease mechanisms. A gene based classification may therefore be more appropriate and underlines the importance of molecular genetic testing . However, this will only be possible once all IRDs will be attributable to mutations in distinct genes. On the other hand, especially in view of therapeutic approaches, quantification of rod versus cone function, preferably in their spatial distribution, is now recognised to be essential . Achievements and unmet needs in this respect will be addressed .

63 Lecture abstracts

L38

Autosomal-recessive Stargardt disease and its phenotypic variability

Kalev Noupuu (Estonia)

Stargardt disease (STGD1) is the most common form of juvenile-onset macular dystrophy, causing progressive visual loss from childhood or early adolescence . The disease is caused by mutations in the ABCA4 gene, resulting in dysfunctional retinoid transporter leading to lipofuscin accumulation and photoreceptor degeneration . Currently, more than 1000 disease causing mutations in ABAC4 gene have been determined resulting in remarkable phenotypic variability . The clinical spectrum could vary from bull´s eye maculopathy with or without yellow-white flecks to severe chorioretinal atrophy. In this presentation phenotypic expression with different imaging modalities will be discussed, with special focus on early stage retinal structural changes in STGD1 .

64 Lecture abstracts

L39

Coats disease

Arvydas Gelzinis (Lithuania)

Abnormally developed retinal blood vessels with capillary telangiectasia, aneurysmal dilatations and increased tortuosity are typical findings in patients with Coats disease, leading to increased vascular permeability and exudation . Progressive vascular leakage results in retinal edema, intra- or subretinal lipid exudates formation and fluid accumulation, causing serous retinal detachment and neovascularization . Vascular ablation using cryotherapy and/or laser photocoagulation for a long time were first choice methods for the treatment of initial or moderately advanced cases, and vitreoretinal surgery for the end stages of the disease . Over the last decade an increasing number of the reports confirms efficacy of anti-VEGF therapy (be it single or combined with another treatment methods) in decreasing retinal edema and vascular leakage, and some caution of perhaps increased risk of tractional retinal detachment . The aim of the lecture is to provide an overview of currently used treatment strategies and possible complications.

65 Lecture abstracts

L40

Pediatric eye trauma

Nadia Bobrova (Ukraine)

The lecture is dedicated to the modern surgical technologies of primary and secondary reconstructive surgery of severe combined eye injuries in pediatric patients . The eye trauma epidemiology in different countries, clinical features, methods of examination will be described . The advantages of corneal wound primary restoration using “perforating” sutures will be shown . Active surgical tactics for injured lens aspiration with simultaneous foldable IOL into damaged capsular bag implantation will be described . The clinical characteristics of pediatric traumatic cataracts, various new and original techniques of their removal, different methods of open and closed iridoplasty with simultaneous endocapsular foldable IOL implantation will be discussed . The efficacy of reconstructive interventions in combined pediatric eye injuries analyzed and the main influencing factors for high visual acuity restoration will be determined. The developed clinical-surgical classification of eyeball injuries in children and the one-stage reconstructive surgery tactic will be the subject of wide speculations .

66 Lecture abstracts

67 Free paper Abstracts

68 Free paper Abstracts

31 May, Friday 1 June, Saturday

FP1 Jaume Català-Mora (Spain): FP9 Mari Levin (Estonia) VCN-01: from the preclinic to a phase I trial for Children’s Eye Screening as a Part of General refractory retinoblastoma patients Preventive Child Healthcare Screening Program in FP2 Marie-Claire Gaillard (Switzerland): Estonia: a New Beginning . EUSCREEN project Visual outcome in retinoblastoma: efficacy of FP10 Zanda Ruskule (Latvia) amblyopia treatment How can we build eye screening for children in states FP3 Matthieu Robert (France): where are optometrists Are vascular abnormalities associated with morning FP11 Kristina Irsch (USA) glory disk anomaly really moyamoya? Use of foveal-birefringence-based fixation detection FP4 Filipa Teixera (Portugal): to facilitate objective eye examinations in young children Paediatric idiopathic intracranial hypertension: correlations of RNFL thickness with clinical and FP12 Aisling Higham (UK) treatment features . Interventions to prevent myopia progression in FP5 Arundhati Dev Borman (UK) children to reduce long-term sight loss: A systematic review and meta-analysis Paediatric Optic Neuritis: A Single Centre Experience FP13 Marek Prost (Poland) FP6 Artur Baranov (Russia) Visual function after bilateral implantation of Anti-VEGF therapy and vitrectomy in the treatment of multifocal versus monofocal IOLs in children below 5 severe forms of ROP . years of age FP7 Victoria Firsova (Russia) FP14 Alf Nyström (Sweden) Mathematical justification of hexagonal pattern scan Reduced rate of secondary glaucoma in paediatric laser photocoagulation in the treatment of active ROP cataract surgery after 5 weeks of age FP8 Asimina Mataftsi (Greece) FP15 Amit Chhabra (UK) Optical Coherence Tomography Angiography in Describing a novel technique for manual primary children with spontaneously regressed retinopathy of posterior capsulotomy in paediatric cataract surgery prematurity FP16 Maria Nieves-Moreno (Spain) The correlation of the inner macular layers thickness with the visual field defect in children with primary congenital glaucoma FP17 Panagiotis Sergouniotis (UK, ERN-EYE) Clinical utility of genetic testing in 201 pre-school children with inherited eye disease FP18 Cameron Parsa (USA) On the origin of Brushfield spots and Wölfflin iris nodules FP19 Annegret Dahlmann-Noor (UK) Molecular mechanisms of blepharokeratoconjunctivitis in children and young people FP20 Claudia Priglinger (Germany) Cystinosis – Review of ophthalmological findings and treatment challenges of in a German patient cohort FP21 Rudolph Guenther (Germany) Bestrophinopathies with particular attention to autosomal recessive Bestrophinopathy (ARB)

69 Free paper Abstracts

FP1 FP2

VCN-01: from the preclinic to Visual outcome in retinoblastoma: a phase I trial for refractory efficacy of amblyopia treatment retinoblastoma patients Gaillard Marie-Claire, Bergin Ciara, Boeuf Mélanie, Stathopoulos Christina, Houghton Susan, Munier Francis L. Jaume Català-Mora 1, Guillem Pascual-Pasto 1, Angel M Carcaboso 1, Genoveva Correa 1, Elisa Carreras Bertran 1, Department of Ophthalmology, University of Lausanne, Jules- Manel Cascalló 2 Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland 1 Hospital Sant Joan de Déu . Barcelona 2 VCN biosciences Speaker: Gaillard Marie-Claire Introduction: With increasing success in survival and globe salvage of patients affected with retinoblastoma (Rb), visual Speaker: Jaume Català-Mora acuity (VA) has become a major criterion in the final outcome Introduction: Retinoblastoma is the most frequent but in our knowledge no study has investigated their final VA. intraocular malignancy in children . Chemoreduction Methods: This is a retrospective study of consecutive Rb treatments with intraarterial, intravitreal and patients with a minimum age of 4 years at last visit, available intracamerular approach have improved largely the VA measurements . Amblyopia treatment was initiated after eye globe salvage rates of these patients but have the conclusion of chemotherapy . The patching regimen was a considerable toxicity . VCN-01 is a clinical-grade correlated to age and the maximum tolerated . Distance oncolytic adenovirus genetically modified to replicate VA was measured at the last visit and converted to logMAR in cancer cells with an altered RB1-E2F pathway, values . though independent from conventional chemotherapy The analysis comprised 3 groups: 1) bilateral RB with one eye pathways . enucleated, these considered to be undergoing permanent Methods: We designed a battery of preclinical occlusion; 2) unilateral RB and patching; 3) no patching or retinoblastoma models derived from treatment- failure of amblyopia treatment in unilateral RB . naïve or chemoresistant patient tumors to study the Posterior pole OCT and/or digital images were analysed . oncolytic activity of VCN-01 in cell cultures, three- Each group was sub-divided according to macular or extra- dimensional tumorspheres, and orthotopic xenografts . macular involvement, the latter determined by the regressed After performing comprehensive biodistribution and tumor or scar located outside a 3 mm area around the fovea . toxicity studies in mice and rabbits, we conducted a Macular abnormalities were further characterized according clinical study to evaluate the safety and activity profile of to the degree of foveal involvement on OCT . intravitreal VCN-01 treatment in pediatric patients with Results: 126 patients were included in group 1, 33 with retinoblastoma refractory to conventional treatment . macular and 93 with extra-macular tumors; median logMAR Results: In vitro, VCN-01 effectively killed patient- final best corrected visual acuity (BCVA) was respectively derived retinoblastoma models . In mice, intravitreous 0.70 and 0.10. In group 2, 78 patients with unilateral RB administration of VCN-01 in retinoblastoma xenografts underwent patching with 27 cases in the macular sub-group and 51 in the extra-macular sub-group, with a median final induced tumor necrosis, improved ocular survival logMAR BCVA respectively 1 10. and 0 40. . Group 3 comprised compared with standard-of-care chemotherapy, and 36 patients, 14 eyes with macular involvement and a median prevented micrometastatic dissemination into the brain . logMAR BCVA of 1 78,. and 22 with extra-macular lesions . In In juvenile immunocompetent rabbits, VCN-01 did not this sub-group of 22 patients, no amblyopia was detected replicate in retinas, induced minor local side effects, and in 8 cases and therefore no patching was proposed . In the only leaked slightly and for a short time into the blood . remaining 14 amblyopic extra-macular eyes, the median Initial phase 1 data in the first two patients showed the logMAR BCVA was 2.08. There was significant difference feasibility of the administration of intravitreous VCN- in BCVA between groups 1 and 2 (P=0 002. in macular and 01 and resulted in antitumor activity in retinoblastoma P=0 000. in extra-macular sub-group) and between groups vitreous seeds and evidence of viral replication markers 2 and 3 (P=0 004. in macular and P=0 000. in extra-macular in tumor cells . The treatment caused local vitreous sub-group) . inflammation but no systemic complications. Macular abnormalities included: atrophy, edema, actinic Conclusion: Oncolytic adenoviruses targeting RB1 retinopathy, choroidal vasculopathy and retinal detachment . might provide a tumor- selective and chemotherapy- Conclusions: Our results show that systematic patching independent treatment option for retinoblastoma . We provides a statistically significant improvement in visual are conducting a Phase I trial to evaluate safety and outcome even with severe macular abnormalities . Macular activity of the oncolytic adenovirus VCN01 in patients feature on OCT, the presence of retinal detachment or with refractory RBL . (EudraCT: 2016-001060-11) choroidal ischemia have been recognized as predictive factors .

70 Free paper Abstracts

FP3 FP4

Are vascular abnormalities Paediatric idiopathic intracranial associated with morning glory disk hypertension: correlations of anomaly really moyamoya? RNFL thickness with clinical and

Matthieu Robert, Nathalie Boddaert, Manoelle treatment features Kossorotoff, Diem Trang Nguyen, Dominique Bremond- Filipa Teixeira, Filipe Simões Silva, Patrícia José, Tiago Gignac Proença dos Santos, Filomena Pinto, Joana Coelho Necker-Enfants malades Hospital, Paris Hospital Santa Maria, Lisbon,Portugal

Speaker: Matthieu P Robert Speaker: Filipa Teixeira Introduction: The morning glory disk anomaly (MGDA) Purpose: To evaluate the correlations between is a unilateral, sporadic, complex malformation of the the retinal nerve fiber layer (RNFL) thickness at optic disk . Vascular abnormalities have been reported in presentation and during follow-up with clinical the ipsilateral carotid territory in children with morning and treatment features in children with IIH . glory disk anomaly and have been diagnosed as Methods: Medical records of patients with IIH (age <18 years) moyamoya, a progressive occlusive cerebral arteriopathy were retrospectively reviewed . Clinical examination, optic involving a progressive stenosis of the skull base vessels . disc photographs and SD-OCT were performed . SD-OCT Children with MGDA now therefore all benefit from serial of the optic disc scans with Heidelberg Spectralis were MRI scans with specific vascular sequences, in order to taken on presentation and during follow-up . The SD‑OCT rule out moyamoya, which consequences may be life parameter values were correlated with visual acuity, threatening in the absence of a specific treatment. Our Frisen grading, lumbar puncture (LP) opening pressure, policy so far was to renew MRI every 3 years when initially acetazolamide dosing and duration of treatment . Pearson normal, and at least every other year when abnormal . correlation coefficient was used to assess the relationships We aimed to systematically evaluate the cerebral between variables . Statistical analysis was performed vessels in patients with confirmed MGDA, on magnetic using SPSS v25 . resonance imaging . Results: Twelve patients were analysed, with mean age Methods: Using our rare disease database, all cases of of 11 4±3. 7. years and 58 3%. were female . Mean LP opening patients with MGDA followed up in our tertiary reference pressure was 37 .9±9 1mmHg. (26-50) . All patients were center for rare ocular diseases between 2008 and treated with oral acetazolamide, and mean duration of 2018 were identified. Cerebral MRI (3D T1, axial T2 and treatment was 8 3±5. 2months. and mean maximum dose FLAIR, coronal T2, diffusion, ASL perfusion and angio- was 19 .9±5 0. mg/kg/day . The mean time for papilledema MRI 3D TOF sequences) performed in all patients were to resolve was 4 8±2. .9months . Mean RNFL thickness at systematically reviewed . presentation was 173 3±91. 6mc. (90-396), reducing for Results: Sixteen patients fitted the study inclusion 117 .8±34 .2mc after 1 month, after 6 months to 99 .8±17 4mc,. criteria . On initial MRI, cerebral vasculature was after 1 year to 97 .9±18 .9mc and after 2 years of follow-up considered normal in ten cases, abnormal in six . Serial to 96 .5±22 0mc. . RNFL thickness at presentation showed MRI were available in 12 cases (7 of the normal ones, 5 of a strong correlation (r 0 .94, p<0 001). with Frisen grade, the abnormal ones) . Abnormalities comprised: bilateral and a moderate correlation (r 0 .56, p=0 004). with LP internal carotid tortuosity alone in two cases; bilateral opening pressure and with acetazolamide maximum internal carotid tortuosity and ipsilateral internal carotid dose (r 0 45,. p=0 026). . There was a strong correlation hypoplasia in one case; ipsilateral venous hypoplasia in between the duration of acetazolamide treatment one case; bilateral complex severe arterial vasculopathy and the RNFL thickness after 1 month of follow-up associating multiple stenosis and dilations in two (r 0.70, p=0.001). No significant correlation was found cases, compatible with a moyamoya appearance . In no between visual acuity and RNFL thickness at baseline . case where serial MRI were available was any evolution Conclusions: In children with IIH, OCT demonstrated noticed, in particular in the two former cases, which were alterations of the peripapillary nerve fiber layer and followed up over 6 and 13 years, respectively . correlated with Frisen grading and LP opening pressure . At presentation, RNFL thickness correlates with the Conclusion: Patients with MGDA exhibit various vascular maximum dose of acetazolamide and after 1 month of abnormalities in the ipsilateral carotid territory . These follow-up the reduction of the RNFL achieved correlated abnormalities may be misdiagnosed as moyamoya, with the duration of the treatment needed . These results however their characteristics are those of stable may reveal a role of the OCT as a prognostic tool for congenital malformations – cerebral arterial dysplasia children with IIH . – and do not fit the criteria for being qualified as moyamoya .

71 Free paper Abstracts

FP5 FP6

Paediatric Optic Neuritis: A Single Anti-VEGF therapy and vitrectomy Centre Experience in the treatment of severe forms of

Arundhati Dev Borman, Yael Hacohen, Vasiliki Panteli, ROP Dorothy Thompson, Cheryl Hemingway, Richard Artur Baranov 1, Evgeniy Sidorenko 2, Roman Troyanovsky 3 Bowman 1 Сhildren’s city medical clinical center of high medical Great Ormond Street Hospital for Children NHS technolog Foundation Trust UK 2 Scientific and practical center of medical care for children Introduction: Optic neuritis (ON) may be monophasic 3 Military medical Academy or occur as part of a relapsing demyelinating syndrome such as multiple sclerosis (MS), aquaporin 4 antibody (AQP4-Ab) neuromyelitis optica spectrum disorder or myelin oligodendrocyte glycoprotein antibody (MOG-Ab) Speaker: Artur Baranov associated disease . There is growing evidence that the Background. Large-scale implementation of anti-VEGF pathobiology differs for the different disorders, a recent therapy in the treatment of active phase of retinopathy report suggesting that in contrast to MS, time to treatment of prematurity (ROP) has significantly changed is likely to influence the final visual outcome in antibody traditional concept of management of the patients mediated ON (Ab-ON) . The aim of this study was to test with developing traction retinal detachment in cases whether clinical features at onset, and electrophysiological of ROP . There are new issues related to timing of use and microstructural parameters differ between Ab-ON, of the anti-VEGF therapy, the multiplicity, the choice idiopathic-ON and MS-ON . of medicine, the feasibility of combining it with laser Methods: All patients (under age 18 years) presented with coagulation of avascular retinal zones, the sequence of ON to Great Ormond Street Hospital (GOSH), London, their implementation, as well as the constantly debated UK, between 2009-2018 . Case notes were retrospectively question of optimal timing of vitreoretinal intervention . reviewed, and clinical/demographic data compiled . MOG Materials and methods. The study included and AQP4 antibodies were tested as part of routine clinical 32 premature babies, whose gestation age varied from care at the time of presentation or relapse to GOSH . 24 up to 33 weeks (average age was 28.5 +/- 4.5 weeks), Results: Of 26 children presenting with ON (16/26 female, most of them (62.5%) were born between 27 and 30 weeks. median age 9 .96 years, IQR 7 .50–13 . 29 years), 13 (50 .00%) had Body weight (BW) at birth was in the range from 660 g Ab-ON (MOG-Ab n=11, AQP4-Ab n=2), 7 had idiopathic ON to 2,000 g (1,330 +/- 670 g), most children (62 .5%) had BW and in 6 the ON was the first presentation of MS. Bilateral from 800 up to 1,250 g . All the children were diagnosed optic nerve involvement only occurred in the non‑MS with the active phase of retinopathy of prematurity: groups (11/13 Ab-ON and 5/7 idiopathic-ON, P<0 001). . APROP (aggressive posterior ROP) in 19 children Median LogMAR visual acuity (VA) at presentation was (38 eyes) – 59.4% and “classic” ne in 13 children (26 eyes) 1.70 AQP4-Ab ON (n=4 eyes, IQR 1.40–1.80), 0.90 MOG‑Ab - 40 6%. . The patients were divided into two groups: one ON (n=18 eyes, IQR 0.70–2.00), 1.35 idiopathic-ON (n=10 eyes, group included 17 children (53 1%). who underwent laser IQR 1 00–3. 00),. and 1 .50 MS-ON (n=4 eyes, IQR 0 70–3. 00). . coagulation (LC) of the avascular retinal zones aged 1 .5–2 months as the primary treatment method . Another The median follow up (F/U) period was 1.75 years (IQR 1.25–3.38 years), during which 10 patients relapsed (Ab‑ON group included 15 children (46 .9%), in them the primary n=5, idiopathic-ON n=2, MS-ON n=3) . In total, incorporating treatment method was the anti-VEGF therapy at the at disease onset or during relapse, 25 Ab, 13 idiopathic and age of 1 .5-2 months using the medicine “Bevacizumab” 9 MS eyes were affected . At last F/U, incorporating relapses at a dose of 0 015. ml intravitreally and the medicine of the same or fellow eye, the median LogMAR VA was “Aflibercept”, 0.015 ml intravitreally. In the first group of 2.70 AQP4‑Ab ON (n=4 eyes, IQR 1.30–4.00), 0.06 MOG-Ab children (8 children (47 1%). with APROP and 9 (52 .9%) - ON (n=19 eyes, IQR 0.02–0.16), 0.02 idiopathic-ON (n=13 eyes, with 3+/4А), the disease, despite the LC, continued to IQR -0.05–0.17) and 0.02 MS‑ON (n=9 eyes, IQR 0.01–0.10). progress, all of them were given anti-VEGF medication in 1- 2 months after the LC in the same dose . After the anti- Conclusion: Bilateral optic nerve involvement at VEGF therapy, complete regression occurred in 6 eyes presentation occurs in non-MS-ON and in this study, (17 7%). . In other cases, the process resulted in traction MOG-Ab was the most common cause of ON in children . retinal detachment of varying severity: in 11 eyes (32 4%). Presenting features overlapped between the groups and it was degree 4a, in 7 eyes (20.6%) - 4c and in 10 eyes - could not be differentiated clinically . Both AQP4 and MOG stage 5 (29 4%). . In the second group (12 children (80 0%). antibodies should be tested in all children with ON, in the with APROP and 3 (20.0%) - with 3+/4 degree) in 3 eyes acute setting, as this has important treatment implications . (10 0%). there was a complete regression . Eventually, after the introduction of the anti-VEGF, degree 5 was

72 Free paper Abstracts

formed in 16 (53.3%) eyes, in 9 eyes (30%) – 4c and in 2 eyes (6.7%) it was degree 4a. 2 children from the first FP7 group and 3 children from group 2 showed reactivation of vasoproliferative syndrome at different periods of time (15 6%). . Out of 56 operated eyes at 3 months the primary Mathematical justification of surgery was performed in 4 eyes (7 1%),. at 4 months - in 12 (21 4%). and at 5 months - in 17 (30 4%). . In other hexagonal pattern scan laser cases, the primary surgery was performed at 6 months photocoagulation in the treatment or later (41 1%. - 23 eyes) . It was mainly caused by other reasons (late presentation, long nursing period) . In total, of active ROP 78 vitreous interventions were performed, 22 of them Alexander Tereschenko, Irina Trifanenkova, Yuliya (39 3%). were repeated, 26 of them were lens-sparing Sidorova, Victoria Firsova operations (46 4. % of all primary operations) and 4 cases (15 4%. of all lens-sparing surgeries) required vitrectomy Kaluga branch of FGAU «NMIC «MNTK «Eye Microsurgery» with lensectomy . Observation period: from 5 months up named after acad . S .N . Fedorov» to 34 months Results. In the first group, complete attachment of Speaker: Victoria Firsova retina was obtained in 18 eyes (60 0%),. almost complete (there were still single folds with deformation of the Introduction: the purpose of our study is to demonstrate relief) - in 3 eyes (10 .0%), the anatomical result in the form the effectiveness of using the hexagonal pattern scan of partial restoration - in 5 eyes (16 7%),. the remaining laser photocoagulation in the treatment of active stages 4 eyes (13.3%) in the postoperative period showed retinal of retinopathy of prematurity (ROP) . rupture in the areas of laser exposure and the additional stages of surgical treatment did not give a positive result . Methods: 85 infants with active stages of retinopathy of In the second group, the result of surgical treatment prematurity were treated in Kaluga branch MNTK «Eye in the form of complete attachment was observed in Microsurgery». Рattern scan laser photocoagulation 11 eyes (42 3%),. almost complete - in 5 eyes (19 2%). and using a “square lattice” 3*3 (9 applicates) was performed in 10 eyes (38 .5%) the surgical treatment did not give a in 44 infants (control group) . “Honeycomb” hexagonal positive result - “narrow funnel“ was formed . In general, pattern scan laser photocoagulation using a hexagonal out of all 56 operated eyes, a positive result in the form pattern (7 applicates with a point in the center) – in of complete retina restoration was obtained in 29 eyes, 41 children (the main group). which amounted to 51 8%. . Visual functions that reached Results: The total quantity of coagulants that were the level of spatial vision were registered in 30 eyes (53 .6%), applied to the avascular retina in the “honeycomb” including both eyes in 14 patients (43 8%. of the total pattern scan laser photocoagulation, the total time of number of patients) . In 17 eyes (30 3%). light perception whole treatment and the number of single applicates was preserved, while 8 of them had a complete were statistically less (p<0 05). than in the control regression in the other eye, without development of a group . Conducting a hexagonal pattern scan laser detachment . In 9 eyes (16 1%),. visual functions could not photocoagulation in the main group allowed to reduce be preserved, but at the same time, 5 patients showed the total energy load . In the hexagonal pattern, in the light perception in the other eye . And in two patients comparison with thе square pattern, spot’s laying is in both eyes (6 25%. of total number) it was not possible more dense and uniform . Based on the formula for to preserve any visual functions because of the severity calculating the square area: S = (2r + d)2 for square lattice of the proliferative syndrome . pattern taking the inter-spot distance for zero, the area Conclusion. Application of the combined method of of the avascular retina covered by laser coagulates will be surgical treatment of severe ROP, in combination with 78 .54%, and the area of intact retina will be 21 .46% . Based the anti-VEGF therapy, both in the original version and on the formula for calculating thе area of a triangle: after laser coagulation of the retinal avascular zones S=√3r2 for “honeycomb” hexagonal pattern, taking the including patients with APROP suppresses visual inter-spot distance for zero, the area of the avascular activity, accelerates the process of formation of cicatricial retina covered by laser coagulates will be 90 .69%, and the structures and significantly reduces their traction action. area of intact retina will be 9.31%. It helps to carry out vitrectomy at an early date and helps Conclusion: The hexagonal shape of the pattern is to improve anatomical and functional results . mathematically justified and allows to produce the most dense “packing” of patterns on the spherical surface of the retina . The increasing of inter-spot distance in the hexagonal pattern allows to perform a “tissue-saving” photocoagulation preserving clinical effectiveness of the laser treatment .

73 Free paper Abstracts

FP8 FP9

Optical Coherence Tomography Children’s Eye Screening as a Angiography in children with Part of General Preventive Child spontaneously regressed Healthcare Screening Program in retinopathy of prematurity Estonia: a New Beginning

Asimina Mataftsi 1, Maria Dermenoudi 1, Anna Dastiridou 1, Mari Levin Chara Tsiampali 1, Sofia Androudi 2, Nikolaos Ziakas 1 East-Tallinn Central Hospital Eye Clinic 1 Aristotle University of Ophthalmology 2 University of Thessaly, Larissa, Greece Speaker: Mari Levin Early detection and treatment of ocular disorders in Speaker: Asimina Mataftsi children is important to avoid permanent visual loss . Our aim is to introduce the new Estonian screening program Introduction: The aim of the present study was to assess for detection of visual impairment in children as changes optical coherence tomography angiography (OCTA) to the national vision screening program are in progress . parameters in children born preterm who developed Training for neonatologists, family doctors and nurses is spontaneously regressed retinopathy of prematurity (sr- provided by ophthalmologists and orthoptists . ROP, group 1), or had no ROP (PreT, group 2), compared to term-born age-matched controls (group3) . The program involves training methods, including e-learning, to: Methods: Cross-sectional comparative case series . Children aged 6 to 8 years had a complete ocular 1. Increase family doctors’ knowledge of the visual examination and OCT and OCTA imaging (Optovue development of the normal baby and eye diseases, RTVue AVANTI instrument) . Foveal avascular zone (FAZ) such as cataract, corneal opacity, and ptosis, area, FAZ perimetry, and vascular density in three slabs which have to be discovered very early in life, were measured automatically, and foveal depth was to teach inspection of the eyes in the neonatal measured manually by two graders . period, examination of the red reflex with the ophthalmoscope and inspection of the eyes to detect Results: Groups 1, 2 and 3 (26, 32, and 34 eyes respectively) squint . did not differ in age or gender, but differed in gestational age and birth weight . Both inner retinal thickness and 2. Train family nurses in screening of monocular visual foveal depth differed significantly between group 1 and acuity in 3 and 6 year-old children and increase their 2, as did vascular density in the superficial and deep knowledge of amblyopia . vascular plexus . VA, FAZ area and perimetry were distinct 3. Children who are found to have an ocular abnormality, in all three groups . VA correlated positively with FAZ area failing vision assessment or considered untestable and foveal depth, negatively with vascular density . are referred to a pediatric ophthalmologist . It is Conclusion: OCTA parameters reveal microvascular important to improve vision screening strategies and changes that distinguish eyes with sr-ROP from efficiency to enable early intervention and prevent premature eyes without ROP, as does visual acuity, treatable causes of vision loss in children . possibly reflecting a severity gradient of immaturity of retinal development .

74 Free paper Abstracts

FP10 FP11

How can we build eye screening Use of foveal-birefringence-based for children in states where are fixation detection to facilitate optometrists objective eye examinations in

Zanda Ruskule 1, Sandra Valeiņa 1, Kristīne Kalniča 1, Irina young children Zakutājeva 1, Ilze Dilāne 1, Anda Balgalve 2 Kristina Irsch, Boris Gramatikov, David Guyton 1 Children’s Eye Diseases clinic, Children’s University The Johns Hopkins University School of Medicine Hospital 2 Kindergarten for visually impaired children “Saulespuke” Speaker: Kristina Irsch This presentation is aimed at providing an overview of Speaker: Zanda Ruskule retinal birefringence scanning (RBS) for the use of foveal Introduction: Screening is an important public health fixation detection aiding in the objective diagnosis and strategy for disease prevention . It enables the early assessment of various pediatric eye conditions . The identification of disease in asymptomatic individuals and underlying concept and principles of RBS-based fixation allows them to benefit from direct preventive action. detection as well as state-of-the-art pediatric applications Common causes of visual impairment in developed will be presented . The presentation will include a countries are refractive errors (1-14,7%), strabismus(0,3-7,3%) discussion of the development and implementation of and amblyopia(2-5%) . In Latvia, state-funded regular eye RBS in an infant vision screening device for the remote examinations is at age of 1, 3 and 6 years, performed by detection of amblyopia risk factors, along with its ophthalmologist . Problem is that at age of 3 and 6 years integration with optical coherence tomography for non- just 30% of children attend eyecheck, main reasons for sedated infant retinal imaging . low attendance is long queue to ophthalmologist (up to 150 days). EUSCREEN project is comparing vision, hearing and general screening programs in Europe, they look for aims of screening, suggest vision tests and screening strategies. Our main aim was to find best screening scenario for our country .

Method: Optometrists from several optics were involved to perform vision screening for 3 and 6 year old children . The main aim of involving other vision specialist, instead of GP or GP nurse in screening is to cover as much children as possible, to make vision testing more accessible, accurate and find faster and treat faster for all children with visual impairment. Results: Data analysis shows, that 83% of children do not have any vision impairments . Just 17% of screened children don’t pass screening criteria (8% of them is insignificant refractive error). The main benefit for involving optometrists is that referral rate goes down to 7%, because optometrists are trained to deal with refractive error, phorias and amblyopia . To understand which tests reveals most of vision disorders sensitivity and specitivity was calculated for various combinations of tests . Literature shows that many countries use just vision acuity . Sensitivity for vision acuity 0,6 is 58%, but in combination with Hirschberg test and prism cover test shows 0,82% sensitivity.

Conclusion: Research shows that vision screening can function as a team work between optometrists and ophthalmologist, covering larger percentage of children, finding vision problems faster, test faster with less effort from parents and higher cost effectiveness . Electronic data collection and analyse system should be included in national e-health system. There is no one scenario that fits all the country’s, it’s how we can maximize resources that we have to be sure we are making the most to improve the health of our children .

75 Free paper Abstracts

FP12 FP13

Interventions to prevent myopia Visual function after bilateral progression in children to reduce implantation of multifocal versus long-term sight loss: A systematic monofocal IOLs in children below 5 review and meta-analysis years of age

Aisling Higham 1, Kurinchi Gurusamy 2 Marek Prost 1 Oxford University Hospitals NHS Foundation Trust Center for Pediatric Ophthalmology, Military Institute of Aviation Medicine 2 University College London

Speaker: Marek Prost Speaker: Aisling Higham Introduction: Pediatric ophthalmologists still prefer to Introduction: The prevalence of myopia is rapidly implant monofocal IOL and our experiences of multifocal increasing and ocular complications from myopia are IOL implantation in children is limited . So the aim of associated with loss of vision . We aimed to assess the this study was to evaluate visual results after bilateral comparative benefits and harms of different myopia implantation of multifocal versus monofocal IOLs in control treatments in children through a network meta- children with congenital cataract aged 1-5 years . analysis . Methods: One hundred ten children between 1 and Methods: We included randomised controlled trials 5 years of age with bilateral cataract in whom after (RCTs) on interventions to reduce myopia from a cataract removal implantation of an multifocal IOL systematic search of standard databases from inception -Lentis Mplusx, Oculentis GmbH, Germany (fifty five to May 2018 . A network meta-analysis was not performed children-group A) or monofocal IOL - C-flex Aspheric because of inconsistency in the results . Instead, we Monofocal, Rayner Intraocular Lenses Limited, UK (fifty performed a standard pairwise meta-analysis . This five children- group B) were implanted in both eyes. review is registered on Prospero CRD42018099503 . Distance corrected visual acuity, distance corrected near Results: We present results from 36 RCTs . The overall visual acuity, binocular vision using the Worth 4-dot test, quality of the evidence was low or very low for all stereopsis using the TNO . outcomes . All trials were at a high risk of bias; many were Results: At the final follow-up visit after 12 months, not adjusted for clustering and some had extremely the mean best corrected distant visual acuity was not high numbers of post-randomisation drop-outs . For significantly different between group A and B but the this reason, we performed a per-protocol, rather than best corrected near visual acuity, binocular vision and intention-to-treat analysis . Primary outcomes- best stereopsis were significantly superior in patients in corrected visual acuity showed no significant change with Group A as compared to Group B. any intervention . Adverse events were not consistently reported . No studies reported quality of life or long-term Conclusion: Implantation of a multifocal IOL in children ocular adverse events. Surrogate outcomes; axial length aged 1 to 5 years with bilateral cataract provides a better and refractive change showed atropine reduced myopia level of near vision and considerably improves the progression . development of stereopsis in comparison with children after monofocal IOL implantation . Conclusions: Interpreting the results in the context of the low quality of evidence, high risk of bias, surrogate outcomes and the use of a per-protocol analysis, we do not have sufficient evidence to provide recommendations for treatment choice in clinic . We recommend that future studies are continued until adulthood to capture longer term ocular adverse events and to focus on clinical, patient centred outcomes .

76 Free paper Abstracts

FP14 FP15

Reduced rate of secondary Describing a novel technique glaucoma in paediatric cataract for manual primary posterior surgery after 5 weeks of age capsulotomy in paediatric cataract

Alf Nyström, Gunilla Magnusson, Madeleine Zetterberg surgery Neuroscience and Physiology, University of Gothenburg, Amit Chhabra (UK) Sweden

Speaker: Amit Chhabra Speaker: Alf Nyström Introduction: Posterior capsule opacification (PCO) is an Introduction: Timing of paediatric cataract surgery is of important postoperative complication after paediatric importance both for the development of amblyopia as cataract surgery . The most common way to prevent well as for the rate of complications secondary to surgery - this is primary posterior capsulotomy with or without glaucoma and visual axis opacification (VAO). In Sweden, anterior vitrectomy . Various manual techniques and a high rate of congenital cataracts are found during the specialised instrumentation have been described in the first week in life due to screening of newborn babies at literature . We present a case series using a simple novel maternity clinics . We have earlier published a low rate of manual technique to achieve a reliable primary posterior VAO after cataract extraction with implantation of Bag- capsulotomy (PC) . in-the-Lens Intraocular lens (BiL-IOL) in children (5 in Methods: We report a retrospective case series of 109 eyes). consecutive paediatric cataract surgeries . All eyeshad The purpose of this study was to investigate whether a lens aspiration followed by anterior vitrectomy with or low rate in VAO is accompanied by a low rate of secondary without IOL implantation . The posterior capsulotomy glaucoma as well and also to find an optimal time for technique uses a 20G MVR blade via two paracenteses cataract surgery in children with dense congenital to create multiple circumferential slit incisions in the cataracts. posterior capsule and to join them by reflecting the capsule centripetally with the MVR blade . A surgical Methods: In a retrospective study medical records were video will show how this creates anaccurate, round analysed for children under the age of two having cataract capsulorhexis . Cases, in which the PC was carried out surgery with primary BiL-IOL during 2009 through 2013. by other techniques, such as free hand, vitrectorrhexis, Results:: Of 109 eyes in children receiving a BiL-IOL PC TIPP or by using vitreoretinal scissors, were excluded 50 eyes of 35 children, 17 boys, were under the age of from analysis . All operations were performed by the 2 and included . 15 eyes (30%) of 11 children developed same surgeon (GDH) . secondary glaucoma . Follow-up time was 30 . years ±1 3years,. median 2 .9, range 0 6. to 5,8 years . 13 of 15 eyes Results: 49 eyes of 35 children were operated with that developed glaucoma had cataract surgery before this novel posterior capsulotomy technique between 5 weeks of age . For children who had cataract surgery July 2011 and June 2018 . The median age at surgery before 3 months of age those who developed glaucoma was 23 (1‑93) months, including 18 children (51%) under had surgery at 3 .5±11 . weeks compared to 5 7±3. 3. for 2 years and 11 (31%) under 1 year of age. 25 eyes (51%) non-glaucoma eyes (p=0 024). . The visual acuity in the received an Alcon MA60AC lens with optic captured glaucoma group was 0 .56 (0 4-1. 0). logMAR (median, through both anterior and posterior capsules, indicating [range]; 0 28. dec) and the non-glaucoma eyes (surgery good PC resistance to stretch . This simple technique at 5 7. weeks) 0 .89 (0 7-1. 6). logMAR, 0 13. dec (p=0 016). . was successful in creating an accurate PC rhexis and did not result in any intraoperative complications or change Conclusion: Early surgery promotes good visual acuity in plan to implant an IOL . Postoperatively, no retinal in children with dense congenital cataract but increases complications such as retinal detachment or cystoid the rate of secondary glaucoma . In the present study, macular oedema were observed during mean post- surgery after 5 weeks of age had considerably fewer surgical follow up of 37 .8 months . cases of secondary glaucoma . Conclusion: We describe an easily replicable manual posterior capsulotomy technique that does not require special instrumentation . This produces a round, accurately sized, centered and mechanically stable rhexis that was safe in infants and young children and can be used with aphakia or different IOL placement strategies .

77 Free paper Abstracts

FP16 FP17

The correlation of the inner Clinical utility of genetic testing macular layers thickness with the in 201 pre-school children with visual field defect in children with inherited eye disease primary congenital glaucoma Sergouniotis Panagiotis 1, Ashworth Jane 2, Lloyd Chris 3, Biswas Susmito 2, Black Graeme 1, Manchester Maria Nieves-Moreno, Sara Garcia-Caride, Laura Morales- Ophthalmic Genetics Group 4 Fernandez, Jose Maria Martinez-de-la-Casa, Julian Garcia-Feijoo 1 University of Manchester, Manchester, UK Hospital Clínico San Carlos, Madrid 2 Manchester Royal Eye Hospital, Manchester, UK 3 Great Ormond Street Hospital for Children, London, UK Speaker: Maria Nieves-Moreno 4 Manchester University NHS Foundation Trust, Manchester, UK Purpose: To analyze the correlation between the circumpapillary retinal nerve fiber layer thickness (cpRNFL) and the inner macular layers thickness with the mean defect (MD) of the visual field in children with Speaker: Sergouniotis Panagiotis primary congenital glaucoma (PCG) . Introduction: Advances in ocular genetics have Methods: In this transversal study, 41 children with transformed our understanding of inherited eye diseases PGC were included . All patient underwent a complete and have led to the development of powerful diagnostic tests . However, integration of these tests into routine ophthalmological exam including visual acuity, healthcare is frequently ineffective . Providing robust intraocular pressure, funduscopy, Octopus visual field evidence of benefit can accelerate implementation; for and, circumpapillar and macular spectral domain example, the adoption of a genetic test is much more optical coherence tomography (SD-OCT) . SD-OCT with likely when its clinical utility (i.e. its ability to influence automated segmentation was used to measure the management and health outcomes) has been clearly thicknesses and volumes of the macular retinal nerve demonstrated . Here we assess the current clinical utility fiber layer (mRNFL), ganglion cell layer (GCL), and inner of genetic testing in a number of paediatric inherited eye plexiform layer (IPL) . disorders Results: The mean age was 11 2. ± 3 86. years and the Methods: Unrelated children (0-5 years old) with inherited mean MD was 8 85. ± 6 76. . In 46% of the patients, the eye disease were retrospectively ascertained through the visual field was classified as normal, and 20% of the database of the Manchester Centre for Genomic Medicine . patients had a concentrical restriction of the visual field. The cohort was consecutively collected over a 7-year period We found a positive correlation between the cup to (September 2011- August 2018) . All study participants were disc ratio and the MD, r =0 .51 (p=0 004). . The correlation examined in tertiary paediatric ophthalmic genetic clinics between the MD and the cpRNFL was r= -0 63. (p<0 001). at Manchester University NHS Foundation Trust and and r= -0.69 (p<0.001) with the GCL. underwent clinical panel-based genetic testing Conclusion: Inner macular layers thickness and cpRNFL Results: 201 children were evaluated including 74 with thickness show a good correlation with the mean defect bilateral cataracts, 8 with bilateral ectopia lentis, 28 with of the visual field in children with primary congenital bilateral congenital glaucoma and/or anterior segment glaucoma . dysgenesis, 32 with albinism and 59 with inherited retina disorders . The diagnostic yield of genetic testing for the cohort was 66% (ranging from 43% to 94% depending on the condition) . The test result lead to altered management (e g. . prevented additional investigations or led to the introduction of personalised surveillance measures or determined eligibility for treatment trials) in significant subsets of children with ectopia lentis (75%), cataracts (64%), inherited retinal disorders (32%), anterior segment dysgenesis (11%) and albinism (6%) Conclusion: Genetic testing helped identify an aetiological diagnosis in the majority of pre-school children with inherited eye disease . This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in subsets of cases that could be precisely defined.”

78 Free paper Abstracts

FP18 FP19

On the origin of Brushfield spots Molecular mechanisms of and Wölfflin iris nodules blepharokeratoconjunctivitis in

Parsa Cameron, Lavinia Postolache children and young people Université Libre de Bruxelles, Erasmus Hospital Huda Al-Hayouti 1, Moritz Daniel 1, Melanie Hingorani 1, Victoria Calder 2, Annegret Dahlmann-Noor 1 1 Moorfields Eye Hospital Speaker: Parsa Cameron 2 UCL Institute of Ophthalmology Introduction: Congenital physiologic peripheral circumferential iris spots known as Wölfflin nodules may be seen in over 25% of the normal population . Similar Introduction: The mechanisms underlying nodules, but larger and more centrally located, called blepharokeratoconjunctivitis (BKC) are incompletely Brushfield spots are found in up to 95% of those with understood, but are likely to include two pathways Down syndrome . Both forms of iris nodules have eluded downstream of bacterial colonisation of meibomian explanation. glands (MG): the induction of a cellular inflammatory Methods: The irides of 43 children with Down syndrome response involving CD4+T cells and neutrophils, and and 43 control children were analyzed using both white bacterial lipolytic activity changing meibum composition . as well as near-infrared light . In selected cases, iris optical Th17 cells, activated via microbial toll-like receptor (TLR) coherence tomography was also performed through the ligands, may be relevant to this condition . To test the iris nodules and of hypoplastic areas . Correlation was hypothesis that the Th17 pathway may be the molecular made with prior histopathological findings. link between bacterial colonisation of the lid margin, bacterial contamination of meibum, and ocular surface Results: Infrared iris illumination unveils spots otherwise inflammation, we explored cytokine expression in the undetected in darker irides . Peripheral to these tear fluids of children with BKC. A secondary aim was to circumferentially placed nodules, the iris is hypoplastic . compare cytokine yield using two tear sampling methods, For the first time, we also noted a reduced presence glass capillary tubes and microsponges (Neoteryx Mitra of contraction furrows correlated to the iris stromal VAMS microsampling devices) . thickness. Analogous findings can be noted in some Methods: We obtained tear samples from 33 children, systemic pathologic processes involving the eye . In mean age 11 6. years, 68% girls, 26 with BKC and 7 all instances, a decreased incidence is noted in darker healthy controls . Each tear specimen was diluted 1:1 pigmented individuals. in buffer and added to duplicate wells prior to adding Conclusion: Circumferential iris nodules such as Wölfflin monoclonal antibodies for simultaneously detecting IL-8, and Brushfield spots represent traces of hyperplastic IL-17A, IL-23, TSLP-2 and plates read (Luminex Inc .) . Final growth in utero due to dysregulation of otherwise concentrations were calculated from individual standard physiological processes with subsequent involution . curves for each cytokine, with minimum detection Such formation and involution is discussed in terms levels of IL-8, IL-17A, IL-23, TSLP-2 (5 19,. 12 80,. 44 44,. of various protein growth factors, triply expressed in 180.08 pg/ml, respectively). trisomy 21. More darkly pigmented irides may also Results: Out of 45 BKC specimens (capillary and contain additional factors that help suppress such microsponge samples), 29 had detectable levels of growth, with fewer spots noted despite infrared imaging . IL-8 (mean±SEM 228 3±76. 6. pg/ml) and 16 had detectable The presence of easily detectable congenital iris nodules levels of TSLP (183 7±46. 2). . This compared with only may serve as a morphologic marker of specific protein 2 detectable from 10 controls for both cytokines. expression in an individual . There may be inherent IL-23 was also detected in 16 of 45 BKC specimens implications as a risk factor, or as a protective factor, for (814.4± 277.6) and was significantly higher than controls various systemic diseases. (mean 265.5). IL-17A was not detected in any tear fluid. There was a significant correlation between IL-8 and TSP- 2 levels in tear fluids (r=0.69; P<0.01). Comparing the two collection methods, IL-8 was readily detected with either method, whereas only 1 of 13 capillary tubes had detectable levels of TSP-2 and only 2 of 13 were positive for IL-23 . Conclusions: There was a significant increase in IL-23 levels in BKC tears, supporting involvement of a Th17 pathway . The strong correlation between IL-8 and TSLP- 2 also suggests potential tear biomarkers for BKC . Tear collection using microsponges resulted in more frequent detection of IL-23 and TSLP-2 .

79 Free paper Abstracts

FP20 FP21

Cystinosis – Review of Bestrophinopathies with particular ophthalmological findings and attention to autosomal recessive treatment challenges of in a Bestrophinopathy (ARB)

German patient cohort Guenther Rudolph, Josef Märtz, Claudia Priglinger Claudia Priglinger 1, Leonie Keidel 1, Benedict Schworm 1, University Eye Hospital LMU Munich Christian Wertheimer 1, Katharina Hohenfellner 2, Nikolaus Luft 1 1 Dep . of Ophthalmology, Ludwig-Maximilians-University Speaker: Guenther Rudolph Munich Bestrophinopathies are characterized by mutations 2 Dep . of Pediatric Nephrology, Kliniken Südostbayern, in the BEST1 gene (OMIM 607854) which encodes the Traunstein protein bestrophin1 in the retinal pigment epithelium, where it forms a Ca2+ activated Cl- channel. It appears that it also play a role in ocular development . In comparison to BEST1 associated autosomal dominant Speaker: Claudia Priglinger vitelliform maculopathy (BMVD), autosomal recessive Cystinosis is a rare autosomal recessive disease with an bestrophinopathy (ARB) is rarely diagnosed . Autosomal estimated incidence of 1:100 000. to 1:120 000,. caused recessive bestrophinopathy (ARB) results from the by mutations in the CNTS (Cystinosin) gene leading to absolute absence of functional bestrophin-1 protein, lysosomal cystine accumulation . Juvenile nephropathic due to a “null phenotype” in the BEST1 gene . But there cystinosis accounts for about 95% of the cases and is not only a genetic difference . There are also clear is usually diagnosed during the first two years of life clinical features distinguishing autosomal recessive manifesting as a renal tubular Fanconi syndrome with bestrophinopathy from autosomal dominant Best polyuria, polydipsia, electrolyte imbalance and failure to disease . The lesions in ARB are not predominantly at thrive . Early diagnosis is imperative to ensure successful the posterior pole of the eye . They are more laminar, treatment and improve quality of life . The mainstay larger and extending beyond the vascular arcades of cystinosis treatment is the amino thiol cysteamine . with numerous irregular spots at the margins, It enters the lysosomes where it breaks the disulfide sometimes accompanied by schisis of the retinal layers . bond of cystine leading to the formation of cysteine Fundus autofluorescence (FAF) and OCT is most and cysteine-cysteamine disulfide. Cysteine then can helpful in the differential diagnosis of this disorders, leave the lysosome through the cysteine transporter . while electroretinography has only limited value, Cysteamine is available as topical formulations for especially in young patients . Molecular genetic ocular manifestations and as an oral medication . Due analysis is the clue in finding the precise diagnosis. to the rarity of the condition, standardized protocols We present different phenotypes in young and adult for detection, assessment, treatment and follow-up patients and focus also on the aspect that this disorder together with interdisciplinary care for these patients can furthermore be complicated by the development of would be essential . In Germany, approximately 120 glaucoma in adults . patients are affected by cystinosis . They are seen on a regular basis by a Munich-based multidisciplinary team . Out of these within 2018 we monitored 18 patients <18 (range 2-17 years, median 12.5) and 32 patients ≥18 ears of age (range 18-75 years, median 28). Clinical presentation, ocular findings in correlation to genotype, age and compliance will be presented and challenges in the management of this rare condition will be addressed .

80 81 Rapid Fires + Poster Abstracts

82 Rapid Fires + Poster Abstracts

RF1 RF1 Lacrimal gland abnormalities in RF18 RF18 Presymptomatic chorioretinopathy in LCHAD blepharophimosis, ptosis and epicanthus inversus deficiency - multimodal assessment of 12 cases syndrome Eva Roomets (Estonia) Catarina Xavier (Portugal) RF19 RF19 Utility of Ophthalmologic Screening in the RF2 RF2 Neuro-ophthalmic complications of endosteal Detection of Infectious Etiologies in Intrauterine hyperostosis . The importance of ophthalmology Growth Restriction monitoring Kara LaMattina (USA) Aisling Higham (UK) RF20 RF20 Epidemiological characteristics and visual RF3 RF3 An overview on the screening and treatment of outcomes of pediatric ocular trauma Retinopathy of Prematurity in a Tertiary Hospital in Monika Vieversyte (Lithuania) Cluj-Napoca (Romania) during a Thirteen-Year Period (2005-2018) Diana Raluca Pop (Romania) RF4 RF4 The impact of the implementation of ROP local screening program and neonatal care improvement on ROP treated premature babies in Children’s University hospital Riga . Antra Treija (Latvia) RF5 RF5 NEDROP-2: Outcome and quality of ROP- screening in the Netherlands Kasia Trzcionkowska (Netherlands) RF6 RF6 The analysis of the incidence and the clinical characteristics of aggressive posterior retinopathy of prematurity Natalya Fomina (Russia) RF7 RF7 Comparison of cycloplegic binocular autorefraction with retinoscopy in children Margarida Brizido (Portugal) RF8 RF8 Anterior segment OCT demonstrates effectiveness of cyclopentolate for cycloplegia Annegret Dahlmann-Noor (UK) RF9 RF9 Long-term refractive outcomes after congenital cataract surgery Romain Touzé (France) RF10 RF10 Re-evaluation and comparison of the effectiveness of congenital cataract screening Maira Vēze (Latvia) RF11 RF11 Newborn primary congenital glaucoma: is early surgical interventional important? Maria Elisa Luís (Portugal) RF12 RF12 When angle surgery is not enough: options in congenital glaucoma Maria Elisa Luís (Portugal) RF13 RF13 Primary congenital glaucoma :long-term visual results and prognostic score Emmanuel Marciano (France) RF14 RF14 Short-term oral corticosteroids for shield ulcers in severe atopic and vernal keratoconjunctivitis Annegret Dahlmann-Noor (UK) RF15 RF15 Descemet Membrane Endothelial Keratoplasty (DMEK) in infants with congenital endothelial dysfunction Gilles Martin (France) RF16 RF16 Double Trouble - Peter’s Anomaly . Doha Jbara (Israel) RF17 RF17 Choroidal Neovascularization secondary to Best Vitelliform Macular Distrophy in Pediatric Patients Catala-Mora Jaume (Spain)

83 Rapid Fires + Poster Abstracts

RF1 RF2

Lacrimal gland abnormalities in Neuro-ophthalmic complications blepharophimosis, ptosis and of endosteal hyperostosis. The epicanthus inversus syndrome importance of ophthalmology

Catarina Xavier, Ana Filipa Duarte, Maria Elisa Luís, Miguel monitoring Boncquet Vieira, Ana Xavier, Alcina Toscano Aisling Higham, Darius Hildebrand, David Johnson, Centro Hospitalar e Universitário Lisboa Central Steven Wall, Jayaratnam Jayamohan, Greg Thomas Oxford University Hospitals NHS Foundation Trust

Speaker: Catarina Xavier Introduction: Blepharophimosis, ptosis and epicanthus Speaker: Aisling Higham inversus syndrome (BPES) is an uncommon autosomal Introduction: Worth type endosteal hyperostosis is dominant congenital disease caused by a mutation in an autosomal dominant sclerosing bone dysplasia the FOXL2 gene . Its major features are blepharophimosis, with approximately 10 known affected families . Clinical blepharoptosis, epicanthus inversus and telecanthus, features are typically evident by adolescence and and recently there have been some reports linking this include forehead prominence, mandible elongation and disease to lacrimal gland (LG) agenesis . We studied the radiological features include thickening of the skull and LG changes in BPES patients of our institution. mandible. Methods: Six patients with ages between 1 and 39 Methods: We present a family of 3 affected children years old were studied. Lacrimal film evaluation was who inherited an alteration in the LRP5 gene from their performed by slit-lamp biomicroscopy and Schirmer I affected mother . test. LG volume was measured on computed tomography scans . All patients were screened for FOXL2 mutations . Results: One child came under the care of the ophthalmologists after having recurrent episodes Results: The lacrimal film was abnormal in 2 patients. of facial nerve palsy . At a routine follow up, aged 12, Both presented a reduced lacrimal meniscus; in one he reported a history of visual obscurations and was patient the Schirmer I test was decreased and in the noted to have bilateral disc swelling . CT head showed second patient a significative superficial keratopathy sagittal synstosis, but normal optic nerve canal was visible . An absence of the LG was disclosed on both calibre . He had raised intracranial pressure (ICP) on CT scans . In 2 other patients LG volume was bilaterally invasive monitoring and subsequently had cranial reduced and in 1 it was normal . The remaining 1-year- decompression . His papilloedema resolved, and his old child had visible LGs and a normal lacrimal status ophthalmic examination findings remain normal at evaluation . In this group of patients, clinical changes 2 years. The eldest sibling, at age 16 has recently been found on the lacrimal film evaluation were greatly diagnosed with bilateral swollen discs at a routine associated to LG dysgenesis . A FOXL2 gene mutation was ophthalmology review appointment. CT findings were found in all cases, one of them not previously described . suspicious for raised intracranial pressure secondary to Conclusion: This study reinforces the recently described reduced cranial volume as a result of calvarial thickening, association between BPES and alacrimia and the again with normal bony optic nerve canals . She has importance of lacrimal evaluation in these patients, recently had calvarial remodeling surgery . The youngest mainly if they are surgical candidates . A new FOXL2 sibling, currently aged 9, was investigated for possible mutation not previously described is also reported . papilloedema with mild left disc swelling 2 years ago . She also has sagittal synostosis on CT imaging, but had normal ICP measurements. She remains under review. To our knowledge there has been one previous case of raised ICP requiring cranial decompression, and another case whereby raised ICP settled with diuretics and serial therapeutic lumbar punctures . Neither case had documented craniosynostosis reported. Conclusion: We recommend regular ophthalmology review of this patient group as part of the multidisciplinary approach to their ongoing care as these children can develop neuro-ophthalmic complications early in life .

84 Rapid Fires + Poster Abstracts

RF3 RF4

The analysis of the incidence An overview on the screening and the clinical characteristics of and treatment of Retinopathy of aggressive posterior retinopathy of Prematurity in a Tertiary Hospital prematurity in Cluj-Napoca (Romania) during a

Natalya Fomina 1, Elena Goravskaya 2 Thirteen-Year Period (2005-2018) 1 North-West State Medical University named after Diana Raluca Pop 1, Anne Claudia Stefanut 1, Gabriela I .I .Mechnikov Zaharie 2, Simona Delia Nicoara 2 2 Children’s Hospital №17 of St.Nicolas 1 Emergency County Hospital Cluj-Napoca, Romania 2 „Iuliu Hațieganu” University of Medicine and Pharmacy, Cluj-Napoca Speaker: Natalya Fomina Purpose: To determine the incidence and the clinical characteristics of APROP in premature babies with Speaker: Diana Raluca Pop gestation age less than 32 weeks . Introduction: This study aimed to evaluate the incidence and treatment of retinopathy of prematurity (ROP) in a Methods: 1533 babies were admitted for treatment Tertiary Hospital from Romania, between 2005 and 2018 . at the Children’s hospital No 17. of St . Nicolas of St. Petersburg from January 2014 to December 2017. Methods: A retrospective study was conducted in the During 4 years APROP was diagnosed in 15 children . Departments of Ophthalmology and Neonatology We retrospectively reviewed images of belonging to the Emergency County Hospital and “Iuliu these babies made with “RetCam Shattle” . Hațieganu” University of Medicine and Pharmacy from Cluj- The analysis showed that in some cases the manifestations Napoca, Romania . Within the study, 1833 premature infants of APROP were not detected . We observed the signs of who were born or referred to the hospital between 2005 and 2018, were evaluated . In the ROP screening were included stage III ROP with “plus” disease, localized in zones I or II . all the premature infants who met our national guidelines: Results: APROP was detected in 9 premature babies gestational age (GA) ≤34 weeks or birth weight (BW) ≤2000g out of 1533 babies (0 6%). born less than 32 weeks of and those above these criteria but with associated risk gestation age . The mean gestation age of these babies factors established by the neonatologist. ROP was classified was 25 ± 1 weeks and birth weight 763 ± 105 g . Among according to the international classification. Treatment was children born with birth weight less than 1000 g . the carried out as indicated by the Early Treatment for ROP Cooperative Group . Since 2010, in aggressive posterior ROP frequency of APROP was 4%, with annual fluctuations (AP-ROP) and in zone I ROP, intravitreal injections with from 2% (2016) to 6% (2014) . All children were treated by Bevacizumab were administered . transupillary diode laser with wavelengths of 532 nm and 810 nm . In 1 case (11%), in spite of the treatment, Results: Screening included 1833 premature infants: 866 retinal detachment occurred, which was the reason (47 .245%) girls and 967 (52 .755%) boys . Of these, 1585 (86 .47%) for the disability of this baby . The manifestations were born in our hospital /county and 248 (13 .53%) were of APROP in zone I were recorded in this case . referred from remote hospitals . GA varied between 23 and Favorable result after laser treatment occurred 35 weeks (mean 30 weeks ±2 4SD). and birth weight (BW) varied between 450 and 3750 grams (mean 1475 grams ± in 89% of babies with APROP . In all of these 428.5 SD). ROP was identified in 355 premature infants images the changes were localized in Zone II . (19.36%), classified as follows: stage 1 - 119 cases (6.49%), stage In 67% babies with APROP had manifestations of 2 - 103 cases (5 .61%), stage 3 - 91 cases (4 .96%) and APROP - 39 chorioretinitis, including a child with developed retinal cases (2 12%). . We performed treatment in 132 infants (7 2%). detachment . , totalizing 263 eyes . Treatment consisted in: indirect diode Conclusion: In some cases severe forms of ROP laser photocoagulation - 80 cases (60 60%),. intravitreal Bevacizumab -39 cases (29 .54%) and combined therapy may be attributed to APROP and the frequency (intravitreal Bevacizumab and laser) - 14 cases (10 60%). . of occurrence of APROP may be overestimated . Follow up continued from 3 months to one year. The final It is advisable to indicate the zone (I or II) making a anatomical result showed attached retina in 247 eyes (93 .92%) diagnosis of APROP . The traditional laser treatment of and partially/totally detached retina in 16 eyes (6 08%). . APROP was ineffective when changes were localized in Conclusion: The ROP screening criteria in Romania include zone I . older and heavier infants as compared to countries with more advanced economies . During the initial 5 years, we performed laser in all ROP cases . Since 2010, intravitreal Bevacizumab (alone or combined with laser) is our treatment of choice for APROP and zone I ROP, with significant improvement of the results.

85 Rapid Fires + Poster Abstracts

RF5 RF6

The impact of the implementation NEDROP-2: Outcome and quality of of ROP local screening program ROP-screening in the Netherlands and neonatal care improvement on Kasia Trzcionkowska 1 , Jacqueline Termote 2, Nicoline ROP treated premature babies in Schalij-Delfos 1 Children’s University hospital Riga 1 Leiden University Medical Center, the Netherlands

Antra Treija, Sandra Valeina 2 Wilhelmina Children’s Hospital, the Netherlands Children University hospital Speaker: Kasia Trzcionkowska

Speaker: Antra Treija Purpose: Following the NEDROP study (2009), a new Retinopathy of Prematurity (ROP)-guideline was Introduction: ROP is a leading cause of childhood implemented in 2013 in the Netherlands, predictively blindness globally, and one of the few causes that in most allowing a 29% reduction in screening . Furthermore, of the cases can be prevented . Since 1996 the Children’s the early treatment for ROP (ETROP)-criteria were University hospital has started ROP screening for emphasized as the study showed that they were not yet prematurely born children . Ophthalmologists organized widely implemented . Moreover, quality indicators were the inspections of all preterm infants . introduced to reduce the risk of not being screened at hospital transfer . The aim of this consecutive inventory Methods: Our retrospective cohort included all for ROP was to evaluate influences of the new guideline and screened and treated babies from 1999 till 2018 . Children provide an up-to-date inventory on incidence, screening were divided into birth weight and GE groups . and treatment of ROP in the Netherlands. Results: In the period from 1999 to 2018 number of ROP Methods: A multicentre, prospective, population- treated neonates and consequently blind children after based study including all preterm infants born in the ROP in Latvia significantly decreased. In 1999 we treated Netherlands in 2017 and considered eligible for ROP- 48 children, in 2002 – 70 children, but since 2011 not more screening . Anonymized data from ophthalmologists than 5 children per year. During the last five years in ROP and paediatricians were merged . Outcome data were treated group were only babies with a birth weight less compared to data from the 2009 inventory . than 1000g . Results: All 80 hospitals involved in ROP screening Conclusion: Increased knowledge about the disease participated . Of the 1455 born with gestational (EPOS, World ROP meetings, guidelines), multifaceted age (GA)<32 weeks, 1287 infants were reported by approach in education and professional development neonatologists and 1087 (84 .5%) screened for ROP by of medical staff, investments into equipment, the level ophthalmologists (2009: 1602 born GA<32 weeks, 2033 of neonatal care, adapted national guidelines for ROP reported, 1688 (83 0%). screened) . ROP was found in 305 screening, indirect ophthalmoscopy and possibility to (28 1%). infants, of which 256 (23 .5%) stage 1-2 and 49 (4 .5%) use RetCam and ICone cameras for examination, as well ≥stage 3. Type I ROP was present in 36 (3.3%) infants. as cooperation with regional neonatal care centres have Treatment, all primarily panretinal laser photocoagulation, allowed to turn our country from a high-risk zone to a was performed in 39 infants (2009: ROP in 324 infants, low-risk zone of ROP blindness. 30 ≥stage 3, 17 treated). Improved ETROP classification confirms better awareness of the treatment criteria. The number of retinal detachments among infants with severe ROP (≥stage 3) decreased from 20.0 in 2009 to 6.1% in 2017 . The risk of not being screened after hospital transfer reduced from 23 5. in 2009 to 8 2%. in 2017 . However, twice as many infants were not screened in the transferred group compared to non-transferred infants (p=0.047).

Conclusions: A near one-third reduction in ROP-screening was accomplished while maintaining high detection of both mild and severe ROP . The overall ROP-incidence remained stable, but the fraction of severe ROP increased and the number of ROP-treatments even more than doubled . Nevertheless, among infants developing severe ROP, the number of retinal detachments had notably decreased . Quality indicators on transfer-logistics and local responsibility resulted in less loss to follow-up .

86 Rapid Fires + Poster Abstracts

RF7 RF8

Peripapillary subretinal Anterior segment OCT hemorrhage in a healthy young demonstrates effectiveness of patient with factor VII deficiency cyclopentolate for cycloplegia

Margarida Brizido, Beatriz Nunes, Susana Pina, Ana Rita Huda Al-Hayouti, Siobhan Ludden, Annegret Dahlmann- Azevedo, Ana Almeida Noor Hospital Beatriz Angelo, Loures, Portugal Speaker: Annegret Dahlmann-Noor

Speaker: Margarida Brizido Introduction: Cycloplegic retinoscopy is the gold standard for identifying refractive error in children . Many Introduction: Aside from their association with optic disc practitioners use a combination of cyclopentolate (CP) drusen or intrapapillary bleedings, peripapillary subretinal and phenylephrine (PE) to achieve full cycloplegia within hemorrhages (PSHs) have been described as a benign a short period of time . As PE has no effect on the ciliary monocular syndrome in otherwise asymptomatic myopic muscle, it does not contribute to cycloplegia, though patients with crowded tilted optic discs . PSHs have been it enhances mydriasis, facilitating the visibility of the considered the result of an interplay of external forces retinoscopy reflection. In our previous study (presented generated by eye movements, thinning of the sclera and in EPOS 2018) we demonstrated that AS-OCT could be tractional forces of the vitreous acting on a vulnerable optic used to objectively assess cycloplegia . In this work we disc that may be morphologically predisposed to hemorrhage . aim to assess the role of PE in cycloplegia . Typically, PSHs do not cause visual symptoms and resolve spontaneously without sequelae over 3-6 months . Methods: We assessed one eye of 82 children, mean (SD) 6 2. (1 3). years, attending for cycloplegic refraction . We Methods: We describe a case of PSH in an 11-year-old female acquired automated measurements of the pupil size, with no previous medical history who presented to a routine radius of curvature (RC) of the front and back lens surface, examination with complaints of decreased distance vision . lens thickness (LT) and diameter (LD) . We obtained Results: On examination, best-corrected visual acuity an AS-OCT before and 30 minutes after instillation of was 1 0. in both eyes . Dilated funduscopic examination cycloplegic eyedrops, with relaxed accommodation and revealed a PSH in the left eye . It was located along the nasal with a target inducing a -6D accommodative demand . margin, spanning a third of the optic disc circumference . Based on our current clinical cycloplegia protocol, we Both discs were crowded and temporally rotated . assessed 20 blue/green (BG) eyes using CP only, 16 light There were no intrapapillary hemorrhages perceived. brown (LB) using CP, 27 dark brown (DB) using CP&PE Spectral domain optical coherence tomography identified and 19 dark brown using CP only. subretinal hemorrhage under the neurosensorial retina . Results: Accommodative effort induces an increase Fundus autofluorescence showed localized peripapillary in lens thickness; this effect is absent after successful hypoautofluorescence. No visible signs of optic disc cycloplegia, which we observed in all four groups . drusen by ophthalmoscopy or by ultrasonography were Similarly, accommodative effort induces an increase in identified. Laboratory testing revealed slightly decreased the anterior radius of curvature (ARC) of the lens, and factor VII (FVII) activity (68% - reference range 70-130% - this effect is absent after cycloplegia . We observed no with oscillating follow-up levels of 58-75%) . The remaining difference in this effect between the four groups . The coagulation tests were normal . Further investigation mydriatic effect of CP was significantly greater in BG revealed a family history of bleeding disorders, namely and LB eyes than in DB eyes. There was no significant Von Willebrand disease in second-degree relatives and a difference in mydriasis between DB eyes after CP or CP/ poorly characterized thrombocytopenia in the father . A PE . conservative approach was favoured . Five months after the initial assessment, the subretinal hemorrhage was resorbed Conclusions: Cyclopentolate successfully induces and a thinning of the retinal nerve fibre layer at the left nasal cycloplegia regardless of iris colour . Even in dark brown quadrant was noticed . It remained unchanged thereafter . eyes, phenylephrine does not enhance cycloplegia .

Conclusion: A possible connection between FVII deficiency and PSH has not been previously stablished in literature . FVII deficiency is a rare multifaceted defect. Although clinical manifestations rarely appear when FVII is above 30%, they do not correlate well with FVII levels . Therefore, we hypothesize that the deficiency may have favoured the bleeding in a crowded tilted optic disc that was already morphologically more susceptible to hemorrhage .

87 Rapid Fires + Poster Abstracts

RF9 RF10

Long-term refractive outcomes Re-evaluation and comparison of after congenital cataract surgery the effectiveness of congenital

Romain Touzé, Pascal Dureau, Catherine Edelson, cataract screening Amandine Barjol, Patrice Delaage De Meux, Georges Maira Veze 1, Sandra Valeina 2, Eliza Avotina 3, Viktorija Caputo Malugina 3 Fondation Ophtalmologique Adolphe de Rothschild 1 Riga East Clinical University Hospital, University of Latvia 2 Children’s Clinical University Hospital, Children’s Eye Speaker: Romain Touzé Clinic Introduction: The final refraction after intra-ocular 3 University of Latvia, Faculty of Medicine lens (IOL) implantation remains a challenge in the management of paediatric cataract surgery . No consensual guidelines exist for the choice of IOL power Speaker: Maira Veze before implantation according to age of patients . The Introduction. Congenital cataract is the most common aim of this study was to validate a method of IOL power cause of the inevitable low vision of children or blindness calculation by evaluating the final refractive error in worldwide. Eye red reflex test, or Bruckner test, is the most all patients with IOL implantation operated at our effective method of cataract screening . In Latvia, congenital institution. cataracts are most frequently diagnosed by eye doctors at the Methods: We retrospectively studied all children under children age of 1 . In 40% of cases cataract was noticed by eye 7 years with isolated congenital cataract who underwent doctors, 27% by general practitioners, 11% by pediatricians, 10% by parents and 4% by neonatologists . Non-ophthalmology a cataract surgery with IOL implantation at our institution profile doctors play a major role in the diagnosis of this between 2007 and 2014, with a minimum follow-up of pathology . In 2013, a study on the possibilities of congenital 36 months . IOL power was calculated as follows: After cataract screening was carried out for the first time in Latvia. B-scan determination of the emmetropic IOL power, a The aim. Update the test of the red reflex and re-evaluate the reduction of 40, 35, 30, 25, 20, 15, 10 and 5% was applied to possibilities for carrying out it in the various regions of Latvia . children 0 – 3, 3 – 6, 6 – 12, 12 – 18, 18 – 24, 24 – 30, 30 – 36, Compare the results obtained with the study carried out in 36 – 48 months respectively . The following data were 2013 . collected: follow-up, age at surgery, uni-or bilaterality, implanted IOL power, final refraction. Methods: Survey was carried out by identifying pediatricians, general practitioners and neonatologists who care for children Results: During this period, 56 children (95 eyes) met below 1 year of age, examining the conditions for eye red reflex the inclusion criteria with a mean follow-up of 93 (± 41) testing possibilities . The survey was anonymous and voluntary . months . The mean age at time of the surgery was Results. 159 medical professionals were surveyed, covering all 23.5 months. We included 39 children with bilateral regions of Latvia - 124 general practitioners, 36 pediatricians, 22 cataract (78 eyes) and 17 children with unilateral cataract neonatologists . In 2013 - 121 specialists . According to the survey, (17 eyes). The mean implanted IOL power was 23.9 (±4.6) currently 54.1% of doctors do not carry out red reflex test, in 2013 diopters (δ).The mean spherical equivalent at last - 68% . Direct ophthalmoscope is available in 69% of doctors’ follow-up was -0.96 (± 4.0) δ. We observed a significant practices or clinics, in 2013 - 62% . 74 8%. of doctors think that difference concerning the final spherical equivalent test is informative and necessary, in 2013 - 54% . In 2013, only 25% between the unilateral group and bilateral group with knew signs and pathology discoverable by the test, currently -3.44 δ (±3.6) vs -0.42 δ (±3.9) (p=0.0024) respectively. 74.8% know about it. 71.7% mentioned - sufficient time can be allowed for a child’s overall examination, in 2013 - 46% . Conclusion: Our undercorrection formula for IOL Burdensome factors: 42 8%. notes that there is a lack of implantation after congenital cataract surgery leads information about the test, in 2013 - 63%; 52 8%. - the work to long-term refractive results globally close to room is difficult to darken; 86.8% - the restlessness of a emmetropia. Though, the formula could be refined for child or the effects of eyelid oedema; the opinion that only unilateral cataracts . ophthalmologists should carry out the test, many recognized the lack of practical skills .

Conclusions. In the past five years the ability of medical professionals to perform the eye red reflex test has improved, however, a significant number of doctors still do not perform the test . It is necessary to continue updating this test by re-informing about it and practical training . It is recommended that the screening strategy, guidelines and recommendations be reviewed at national level .

88 Rapid Fires + Poster Abstracts

RF11 RF12

Newborn primary congenital When angle surgery is not enough: glaucoma: is early surgical options in congenital glaucoma intervention important? Maria Elisa Luís, Diogo Hipólito Fernandes, Miguel Vieira, Mariana Cardoso, Maria Reina, Cristina Brito Maria Elisa Luís 1, Diogo Hipólito-Fernandes 1, Ricardo Figueiredo 2, Mariana Cardoso 1, Cristina Brito 1, Alcina Centro Hospitalar Universitário Lisboa Central Toscano 1 1 Centro Hospitalar Universitário Lisboa Central Speaker: Maria Elisa Luís 2 Hospital do Espírito Santo de Évora Introduction: Angle surgery remains the preferred initial procedure in the primary approach of congenital glaucoma. About 20% of surgeries fail during the first Speaker: Maria Elisa Luís year and there is glaucomatous progression in about Introduction: Newborn primary congenital glaucoma 1/3 of the eyes throughout life even when stable and (PCG) is a rare subtype of pediatric glaucoma with under additional medical therapy . The purpose of this functional and visual poor prognosis requiring early study is to evaluate the surgical options when angle diagnosis and surgical intervention . Surgical and clinical surgery is not sufficient and to identify possible factors success of primary trabeculotomy reported in the related to its failure . literature is variable . Methods: Retrospective study of surgical interventions Methods: Retrospective study of trabeculotomies performed after angle surgery(s) in a group of eyes performed as primary procedure between January with congenital glaucoma – groupA; comparison with a 2006 and June 2017 in children diagnosed with control group, whose angle surgery(s) was shown to be newborn PCG. Surgical success was defined meeting sufficient – groupB. the following criteria: post-surgical intraocular Results: A total of 19 eyes of 12 children in group A and pressure (IOP) ≤16 mmHg with or without additional 21 eyes of 12 children in group B were included . There medication; absence of glaucoma progression; no were no differences concerning sex and subtype of severe intraoperative or postoperative complications; glaucoma between groups (p=0.20). Age at first surgical no more than 1 additional trabeculotomy or any other approach and total number of angle surgeries also did glaucoma surgery during the first 12 months after not shown differences between groups (p=0 15. and primary procedure. Two groups were defined: 1-surgery p=0 09,. respectively) . The mean age at the time of non- performed within 1st month of life; 2-surgery performed angle surgery was 4 3. years (±3 2). . The most frequently after 1 month of life . performed surgery was trabeculectomy with anti- Results: A total of 31 eyes of 16 children were included metabolite . In group A, the number of previous surgeries during a mean follow-up period of 51 3. months with (p=0 05),. the patient’s age at reintervention (p=0 08),. standard deviation (SD = 41 .9) . After trabeculotomy, the time interval since the last surgery (p=0 15),. and the mean IOP was 11 8. mmHg (SD = 5 2). in group 1 and preoperative intraocular pressure (IOP) (p=0 624). were 13.9 mmHg (SD = 6.8) in group 2 at 1 month follow- similar between eyes submitted to trabeculectomy and up . Additional antiglaucomatous medication was aqueous humor drainage device. There was a significant required in 71 4%. (group1) and 58 .9% (group 2) . Corneal reduction (p<0 001). in mean postoperative IOP of opacification reduced in both groups with statistical 14 .9; 10 1. and 12 1. mmHg at the 1st; 6th and 12th month significance (p = 0.001; p = 0.016). The most frequent respectively . The number of topical antiglaucomatous complications were hyphema (intraoperative) and drugs remained similar (p=0 72). . This reduction in goniosynechiae (postoperative) . A mean of 0 4. (SD = 0 7). IOP was comparable with different surgery types and 0.5 (SD = 0.9) reinterventions were recorded in group (p=0 .22-0 .46) . Surgical complications were present in 41% 1 and 2 respectively . Seven eyes (50%) of group 1 and 3 and 50% of the cases submitted to trabeculectomy and (23%) of group 2 recorded an acceptable or good best to tube implant . corrected visual acuity, at last visit . Twelve (85 7%). eyes of Conclusion: Surgical options in congenital glaucoma group 1 and 11 (64.7%) of group 2 met the surgical success refractory to angle surgery are several . There is criteria . preference in the literature for implantation of aqueous Conclusion: Earlier trabeculotomy seems to be associated drainage devices with good safety and surgical efficacy. with better results for visual acuity, corneal transparency No predictive factors of angle surgery failure were and surgical success . Even when diagnosed late, primary identified. The patient’s age and number of previous trabeculotomy may be attempted with good outcomes . surgeries influence surgical options.

89 Rapid Fires + Poster Abstracts

RF13 RF14

Primary congenital glaucoma: Short-term oral corticosteroids for long-term visual results and shield ulcers in severe atopic and prognostic score vernal keratoconjunctivitis

Emmanuel Marciano, Pascal Dureau, Catherine Edelson, Pasan Fernando 1, Marta Chubek 1, Elisa Marziale 2, Melanie Ana Clement, Amandine Barjol, Georges Caputo Hingorani 2, Stephen Tuft 2, Annegret Dahlmann-Noor 2 Fondation Rotschild 1 Cambridge University 2 Moorfields Eye Hospital Speaker: Emmanuel Marciano Introduction: Primary congenital glaucoma (PCG) Speaker: Annegret Dahlmann-Noor is a potentially blinding disease . Clinical experience Background/aims: Vernal and atopic keratoconjunctivitis suggests that the anatomical, presionnal and visual (VKC, AKC) are severe allergic ocular surface diseases prognosis differ among patients according to the initial with sight-threatening complications such as corneal characteristics of eyes . The purpose of this study was to epithelial defects and shield (plaque) ulcers . Appropriate evaluate the final visual acuity (VA) and to establish a management, particularly with short-term oral prognostic score in a cohort of PCG patients . corticosteroids (OCS), can reduce the risk of progression of Methods: Retrospective study including patients with epithelial defects to plaques which require surgical removal . PCG diagnosed between 2003 and 2014 . The following Here we evaluate the indications for, and treatment data were noted: Age at diagnosis, corneal diameter outcomes of, OCS in the management of VKC/AKC shield (CD), axial length (AL), intraocular pressure (IOP), corneal ulcers in children and young people presenting at a tertiary clarity, type and number of surgeries performed, final IOP referral centre in the UK . and VA, follow-up. The VA has been classified into three Methods: We reviewed the medical records of children up groups: good (> 5/10), moderate (1-5/10) and poor (< 1/10) . to the age of 16 years who had been prescribed OCS for Based on these data, statistical analysis and literature, a VKC/AKC between 2008 and 2018 . We noted age, gender, prognostic score was defined and tested on our cohort severity of corneal epithelial disease (Cameron grading Results: The study included 68 eyes of 37 patients with system), proportion of ulcers healed within 2 weeks of starting an average age of 4 .4 months at diagnosis: the mean CD OCS, proportion of children requiring surgical intervention, was 13,04 ± 1,19 mm, the mean AL was 22,07 ± 2,27 mm, and time from starting steroids to epithelialisation. the mean IOP was 13,1 ± 6,06 mmHg, and the mean Results: We identified 16 children and young people final IOP was 14,7 ± 6,6 mmHg . The mean final VA was (median age at first OCS 11.5 (IQR 9-14) years); 15 (94%) 1.5/10 after an average follow-up of 6.7 years. The final were boys . Including all OCS treatment episodes (n=30), VA was good in 47% of eyes, moderate in 22% and poor 12 (40%) were severity grade 3 lesions, 4 (13%) grade 2, in 31%. The prognostic score for final VA included the 10 (33%) grade 1, and four (13%) severity less than grade 1. In following parameters: Corneal clarity, corrected IOP, grade 3 lesions, OCS were supplementary to superficial and CD and AL adjusted to age at diagnosis . The score keratectomy in 7/12 cases (58%), to promote healing and allowed classification of eyes in two groups at the time prevent recurrence of the ulcer. In the other five cases, of diagnosis: good prognosis with an average final VA keratectomy was not carried out initially; two plaque ulcers of 2.7/10 and poor prognosis with an average final VA of resolved spontaneously, while two required surgery, 48 and 0.5/10. 63 days after OCS were started . One was lost to follow- up In. grade 2 lesions, re-epithelialisation was achieved Conclusion: A good final VA was obtained in nearly within 14 days in one case, within 28 days in one case, and 50% of cases . The suggested prognostic score makes it two required superficial keratectomy four weeks after the possible to effectively distinguish PCG with good or bad start of OCS .Grade 1 lesions responded well to OCS, with prognosis at the time of diagnosis and thus adapt the re-epithelialisation within 14 days achieved in 6/10 cases . treatment and follow-up . One further case showed re-epithelialisation before 22 days, and three were lost to follow-up .The children who received OCS for lesions less than severity grade 1 were considered at imminent risk of progression; epithelial improvement within 14 days was noted in 3 of these cases .

Conclusions: A short course of oral corticosteroids is associated with resolution of early shield ulcers, and can be used as an adjunct to superficial keratectomy in established plaque ulcers . We propose an algorithm to guide the management of these lesions .

90 Rapid Fires + Poster Abstracts

RF15 RF16

Descemet Membrane Endothelial Double Trouble – Peter’s anomaly

Keratoplasty (DMEK) in infants with Doha Jbara, Uri Elbaz congenital endothelial dysfunction Rabin Medical Center Gilles Martin, Pascal Dureau, Isabelle Cochereau, Jean- Michel Devys, Georges Caputo, Eric Gabison Speaker: Doha Jbara Fondation A . de Rothschild – Ophthalmology Introduction: Peters anomaly is a rare, developmental malformation involving the anterior segment of the Speaker: Gilles Martin eye . It is the most common cause for congenital corneal opacities that leads to blindness Two. types of peters Introduction: In the management of endothelial anomaly have been reported; type I and II with and dysfunctions in adults, Descemet Membrane Endothelial without lens involvement, Keratoplasty (DMEK) and Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) have shown better Methods: We wish to present a case of peters anomaly outcomes than penetrating keratoplasty (PK) regarding in 4 eyes of monozygotic twin girls (NZ,MZ) born to visual acuity (VA), intraoperative complications, graft consanguineous parents at 34 weeks of gestation rejection and quality of life . In children, the high prevalence through cesarean section They. were referred to the of graft rejection and amblyopia after PK has been well Schneider medical center, Petah Tikva, Israel at the age established . Some publications recently reported DSAEK in of 11 months after undergoing glaucoma tube surgery for Congenital Hereditary Endothelial Dystrophy (CHED) and IOP control at the age of 1 month .Genetic sequencing for Posterior Polymorphous Congenital Dystrophy (PPCD), common anterior segment dysgenesis genes including but no successful DMEK in infants has been yet reported . CYPIBI, PAX6, FOXC3 was negative. We report the surgical and anesthetic particularities of Results: Slit-lamp examination demonstrated varying DMEK in infants with congenital endothelial dysfunction. degrees of central leukoma, iridocorneal adhesions Methods: We retrospectively reviewed the cases of two and partial aniridia in both eyes Twin. NZ also had a infants with bilateral congenital corneal edema, who microspherophakia and lenticolo-corneal adhesion underwent a DMEK in one or both eyes . The follow up (characteristic of type II Peters anomaly) . In Twin MZ had relied on the corneal clearness, the refractive error and cataractous changes were observed in the left eye due the ultrasound (US) pachymetry . If not measurable with to contact of the Ahmed tube with the lens At. this age, US, the corneal thickness was estimated with the anterior diagnosis of Peters anomaly was made At. 13 months segment optical coherence tomography (AS-OCT) . of age, both twins went through corneal transplant penetrating keratoplasty in the right eye while twin NZ Results: Case 1 had at 7 months of age a corneal thickness of 640 µm in both eyes . An increase of the corneal opacities also had lensectomy and anterior vitrectomy and corneal led to a DMEK performed in the left eye (OS) at the age transplant in the left eye two months later 4. moths post of 2 years . Two years after surgery, the VA was 20/63 with transplantation the twins developed corneal infection in +1 75. (+2 at 170°) with a pachymetry of 572 µm . Case 2 had corneal graft in the right eye due to the usage of contact at 11 months of age a corneal thickness of 1100 µm OU lens Therefore. another corneal transplantation was measured with AS-OCT . A DMEK was performed in OR required in our follow up of 5 months the corneal graft is at the age of 12 months . Two months after surgery, the clear up until now . In visits to come, hypotonic right eye refractive error was +7 (+1 25. at 170°) with a pachymetry of was diagnosed of twin ZM an Ocular ultrasonography 608 µm . A DMEK was performed in OS at 14 months of age, under anesthesia revealed funnel shaped retinal with good adhesion of the graft and decrease of edema detachment and dislocated lens . An inevitable phthisis one month after surgery. Some intraoperative difficulties, developed eventually in this eye. including shallow anterior chamber and positive vitreous Conclusion: To the best of our knowledge,this is the pressure, appeared to be facilitated by the small corneal first report of peters anomaly in 4 eyes of monozygotic incisions, while intraoperative AS-OCT allowed a correct twins A. genetic sequencing was negative for common graft orientation and positioning . Good respect of the anterior segment dysgenesis genes, implicating an supine position was obtained thanks to the post-operative unknown mutation Surgical. management of peters administration of intravenous nalbuphine, under medical anomaly eyes is challenging . We herein show the various supervision. surgical complications that one may encounter through Conclusion: These first cases of successful DMEK in the case management of peters anomaly,including infants show the feasibility of this technique regardless graft failure related to infectious keratitis from contact of the age . Compared to KP, a better visual prognosis is lens use,retrocorneal membrane,lens dislocation,retinal expected, considering the quicker recovery, with smaller detachment retinal and eventually phtisis . incisions and less astigmatism, and a lower risk of graft rejection or wound dehiscence .

91 Rapid Fires + Poster Abstracts

RF17 RF18

Choroidal Neovascularization Presymptomatic chorioretinopathy secondary to Best Vitelliform in lchad deficiency – multimodal Macular Distrophy in Pediatric assessment of 12 cases

Patients Eva Roomets 1, Tero Kivelä 2 Jaume Català-Mora 1, Jorge Ruiz-Medrano 2, Silvia Pagán- 1 Tallinn Children´s Hospital Carrasco 3, Elisa Carreras-Bertran 1, Jesús Díaz-Cascajosa 1, 2 Joan Prat-Bartomeu 1 Helsinki University Central Hospital, Department of Ophthalmology 1 Hospital Sant Joan de Déu . Esplugues de Llobregat . Barcelona .

2 Hospital Puerta del Hierro Majadahonda . Madrid . Spain Speaker: Eva Roomets 3 Complejo Hospitalario Universitario de Cáceres . Cáceres . Spain . Introduction: Long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency (LCHADD) is a rare, autosomal recessive inborn Speaker: Jaume Català-Mora error of fatty acid oxidation, which presents in infancy with acute life-threatening hypoglycemia, hepatopahy and Introduction: Best vitelliform macular dystrophy (BVMD) is the cardiomyopathy . Most patients with LCHADD are nowadays most common retinal pigment epithelium dystrophy . It shows detected before any symptoms occur by newborn screening, autosomal dominant inheritance with variable penetrance . or after the first metabolic crises. The chorioretinopathy Choroidal neovascularization (CNV) is an unusual complication associated with LCHADD begins with pigment mottling in the of Best disease with unknown prevalence . Recent research macula, which can appear early in childhood . Before the early point at OCT angiography (OCTA) as the key tool to stablish an early diagnosis and follow up of these patients . The purpose of identification of the disease was available, the retinopathy this paper is to analyze the prevalence of CNV among underage rapidly progressed to atrophy of the retina, retinal pigment patients suffering from BVMD . epithelium (RPE) and choroid . To improve the understanding of the disease process, structural changes seen on spectral Methods: A cross-sectional, non-interventional study was domain optical coherence tomography (SD-OCT) were performed on 22 eyes from 11 underage consecutively recruited compared to those visible on fundus color photography and patients from a tertiary pediatric hospital who were diagnosed autofluorescence (FAF) imaging. with BVMD. Clinical diagnosis, genetic confirmation and informed consent were obtained in all patients . They underwent Methods: Two Estonian and 10 Finnish children, 4-17 years a complete ophthalmological examination including best- of age, with relatively early diagnosis (during the first year of corrected visual acuity (BCVA), slit lamp exam, intraocular life) of LCHADD caused by the homozygous G1528C common pressure (IOP) measurement and dilated retinal examination . mutation underwent ophthalmic examination, fundus color Swept-Source optical coherence tomography (SS-OCT) was then photography, SD-OCT and FAF imaging . All patients had good performed using the Triton SS-OCT device (Topcon Co, Tokyo, compliance of the dietary therapy and no visual complaints . Japan). CNV lesions were identified in cases with evident flow at the level of the outer retinal/choriocapillary and were classified Results: SD-OCT scans revealed preserved outer retinal as dense net, loose net, unidentifiable and ring shaped. The layers including distinguishable interdigitation zone (IZ) and presence of subretinal (SRF) and intra-retinal fluid (IRF) was intact ellipsoid zone (EZ) band in nine eyes, while minimal evaluated using b-scans . or no pigmentary changes were seen on color fundus Results: Mean age was 9 (range: 4-15) years old . There were photos and FAF images . Seven eyes showed thinning of the 5 male and 6 female patients . Mean BCVA was 20/25 (range: IZ with intact EZ band, while the fundus images revealed 20/100-20/20) . 8 out of 11 patients (72 7%). showed signs of CNV mild to moderate pigmentary mottling in the macula (and on OCTA, and 6 were bilateral, with 14 out of 22 eyes (63 6%). mid-periphery) with corresponding loss of FAF . Seven eyes suffering from CNV . 8 of them were categorized as dense net, showed further loss of the IZ band and parafoveal disruption 3 were unidentifiable and 3 were ring shaped CNV. 92.8% of of the EZ band, while imaging revealed various degrees of the eyes with CNV showed SRF and 14 2%. showed IRF on OCT . macular hypopigmentation and decreased macular and 62 .5% of the eyes with no signs of CNV showed SRF on OCT, but mid-peripheral FAF . none showed IRF . Parents of 6 of the children included in the study and diagnosed with BVMD were examined using the same Conclusions: Fundus color photography, AF and OCT findings protocol and all had CNV, with 3 bilateral cases . suggest that initially the RPE damage, seen as pigmentary mottling and thinning of the IZ occurs in the macula with Conclusion: OCTA is a non-invasive method specially indicated in surviving photoreceptors . This is followed by photoreceptor the follow-up of children with BVMD . It has revealed the presence damage, seen as parafoveal loss and/or disruption of the EZ of CNV and other vascular retinal abnormalities in more than band . The hypopigmentation of the macula seem to be a 70% of the patients although most of them retain good visual acuity and lack signs of activity: intraretinal fluid or hemorrhages. negative prognostic factor with RPE thinning and notable Further studies should address the benefit of treatment versus overlying abnormalities of the EZ and IZ . Even when FAF observation in “quiescent” CNV secondary to BVMD . appears to be altered, the presence of an intact EZ band can be used to differentiate more advanced retinopathy .

92 Rapid Fires + Poster Abstracts

RF19 RF20

Utility of Ophthalmologic Epidemiological characteristics and Screening in the Detection of visual outcomes of pediatric ocular Infectious Etiologies in Intrauterine trauma

Growth Restriction Vieversyte Monika, Puodziuviene dr . Edita, Zemaitiene prof. Reda Kara LaMattina 1, Melissa Schwedhelm 2, Maureen Lloyd 3, Barry Wasserman 3, Alla Kushnir 4 Lithuanian University of Health Sciences 1 Boston University Schoold of Medicine

2 Children’s Hospital at Dartmouth Speaker: Vieversyte Monika 3 Wills Eye Hospital Introduction: Ocular injuries are an unpleasant occurrence and the most common cause of acquired 4 Cooper University Hospital monocular blindness in children . Pediatric ocular trauma accounts for more than one-third of all ocular trauma admissions, while diagnosis and treatment are Speaker: Kara LaMattina particularly challenging . Epidemiological characteristics Introduction: Intrauterine growth restriction (IUGR) are valuable for the prevention of monocular blindness has multiple etiologies, which include maternal, fetal, and amblyopia . and uteroplacental factors . Infectious causes account Methods: A total of 268 cases of pediatric ocular trauma for a small but significant number of cases of IUGR, admitted to the Department of Ophthalmology of the although there is no consensus on how and when to Lithuanian University of Health Sciences Hospital from screen for TORCH infections (an acronym which includes January 2008 to December 2013 were retrospectively Toxoplasma gondii, rubella, cytomegalovirus (CMV), and reviewed . Data analyzed included age, sex, cause, type herpes simplex virus (HSV), and others) . Recent literature and treatment of injury, initial and final visual acuity (VA) supports a more limited work-up in asymptomatic and tissues involvement. Eye injuries were classified by neonates with IUGR . We sought to determine the utility Birmingham Eye Trauma Terminology (BETT) and Ocular of ophthalmologic examination as part of the infectious Trauma Classification System (OTCS). work-up. Results: The age of children ranged from 6 months to Methods: A retrospective chart review of neonates 17 .5 years . Males were more likely to experience an ocular diagnosed with symmetric IUGR or small for gestational injury than females . Home was the leading place of eye age (SGA) who underwent complete ophthalmologic injury (60 4%),. followed by outdoors (31 7%),. school (5 2%). consultation to assess for intraocular findings suggestive and sports area (2 2%). . The peak number of pediatric of congenital infection was performed . Data collected ocular injuries were caused by blunt (40 3%). and sharp included other factors that may cause IUGR, systemic objects (29 .9%), followed by burns (9 3%),. falls (6 7%),. and ophthalmologic exam findings, and results of explosions (4.5%), fireworks (4.1%), gunshots (1.9%) and infectious work-up . traffic accidents (0.7%). Closed globe injury (CGI) was the Results: After review of over 850 NICU consultations most common type of eye injury (53 .4%) . CGI was noted to from one author (BNW), one hundred neonates met be higher in children aged 13-18 years, while open globe inclusion criteria . The mean gestational age at birth injury (OGI) were higher in the pre-school age group . was 34 6±3. 0. weeks and the mean birth weight was Injury of grade 4 and grade 5 was more common in OGI, 1691±530 grams . Seventy-four percent of patients had while grade 1 and grade 2 predominated in cases of CGI . an identifiable risk factor for IUGR. Eighty-four patients The most common presentations of OGI were hypotony, underwent infectious work-up . Two of the 73 patients traumatic cataract, iris laceration, vitreous prolapse, who underwent urine culture for CMV were positive and uveitis, while hyphema, secondary glaucoma, and (one of whom had systemic signs of congenital infection retinal edema were significantly related to CGI. Final without eye involvement, the other had no signs of diagnoses contributing to the poor final visual outcome congenital CMV); the infectious evaluations were (corneal scar corneal opacity, hypotony, aphakia, retinal otherwise negative . No patients had any ophthalmologic detachment) were statistically significantly related only signs of congenital infection. with OGI . Overall, 6563% . of children regained good visual acuity (VA ≥ 0.5), but for 18.4% of them, the trauma Conclusion: Current literature suggests that routine resulted in severe visual impairment (VA ≤ 0.1). infectious work-up in neonates with isolated IUGR may be low-yield and not cost-effective . Our study supports Conclusion: This study provides data indicating that that routine ophthalmologic evaluation in newborns ocular injuries are a significant cause of visual impairment with symmetric IUGR without any systemic disease or in children, thus pediatric ocular trauma still remains an positive laboratory findings is of little value. important preventable cause of ocular morbidity .

93 Poster Abstracts

94 Poster Abstracts

ERN-EYE Neuro-opthalmology

P1 Diagnostic path in pediatric retina mystery case . ERN- P16 Can you HaNDL(The Syndrome of transient Headache EYE CPMS experience . and Neurological Deficits with cerebrospinal fluid Sandra Kudina (Latvia) Lymphocytosis) the Truth? P2 A case to the ERN-EYE CPMS panel: a subretinal Gad Dotan (Israel) haemorrhage in a 14-year-old – why? P17 A Comparison Between Standard And Ultra-Widefield Delis Linntam (Estonia) Optos Autofluorescence To Identify Optic Nerve Head Drusen In Children And Adolescents Lampros Lamprogiannis (UK) Eye and orbital tumors; P18 Peripapillary subretinal hemorrhage in a healthy young patient with factor VII deficiency Oculoplastics Margarida Brizido (Portugal) P3 Intraocular tumors, tumorlike lesions and first noticed P19 Bilateral optic neuritis associated with Mycoplasma signs among pediatric patients over 10 year period in Pneumoniae CCUH, Riga Ana Morales (Spain) Lelde Ullase (Latvia) P20 Patients with Fazio-Londe(neurodegenerative disorder) P4 Horizontal Gaze Palsy in a 7-year Old Girl (Pontine syndrome and reduce visual acuity . glioma) Vineta Aizkalne (Latvia) Stephanie Celucia (Philippines) P21 Optic disc pit maculopathy P5 Focal Chemotherapy in Ciliary Medulloepithelioma: a Vilma Jurate Balciuniene (Lithuania) case report P22 Neuronal Ceroid Lipofuscinosis 3 : from early Marie-Claire Gaillard (Switzerland) foveopathy to systemic involvement . P6 Delayed presentation of combined hamartoma of the Sabine Defoort-Dhellemmes (France) retina and retinal pigment epithelium in the macula . P23 Optical coherence tomography angiography in Agne Krucaite (Lithuania) children with optic neuritis, multiple sclerosis or P7 Orbital capillary haemangioma with intra-cranial neuromyelitis optica spectrum disorders . extension Joanna Jedrzejczak-Mlodziejewska (Poland) Aoife Naughton (UK) P24 Geneticaly approved papillorenal syndrome combined P8 Treatment of peri-ocular infantile haemangioma with with suprasellar craniopharyngioma 56 un. 61 . topical timolol maleate in the developing world Jekaterina Zaharova (Latvia) Aoife Naughton (UK) P25 Papillorenal syndrome with secondary serous retinal P9 Effectiveness of topical timolol maleate 0 .5% solution in detachment: family history can help the diagnosis treatment of acquired capillary hemangiomas Françoise Roulez (Switzerland) Svetlana Belova (Russia) P10 Retinal nerve fibre layer thickness analysis after sclerotherapy treatment of orbital lymphatic malformations ROP

Maria Nieves-Moreno (UK) P26 Organisation, experience of observation and treatment P11 Case series of Nanophthalmos pf premature infants in the S .N . Fyodorov IRTC “Eye Oliver Pfaeffli (Switzerland) microsurgery” FSAI of the ministry of health care of Russia . P12 Case of family with blepharophimosis syndrome Kseniya Belousova (Russia) Olga Muhina (Latvia) P27 Ocular Findings and Growth in 5-year-old Preterm P13 Congenital Blepharoptosis: An unexpected surgical Children Born to Mothers with Preeclampsia complication Marita Andersson Gronlund (UK) Maria Elisa Luís (Portugal) P28 Retinopathy of Prematurity – review of screening P14 Monoka monocanalicular intubation in the criteria management of epiphora in children: case series Filipa Sampaio (Portugal) Filipa Sampaio (Portugal) P29 Visual perception is affected in prematurely born P15 Bilateral frontoethmoidal encephalomeningoceles children in young adulthood below medial canthal tendons emulating tear duct pathology . A case report . Dýrleif Pétursdóttir (Sweden) Maris Viksnins (Latvia) P30 Optical Coherence Tomography Angiography in children with artery occlusion Agnieszka Czeszyk Piotrowicz (Poland) P31 Adverse events during fluorescein and indocyanine green angiography in children Annegret Dahlmann-Noor (UK)

95 Poster Abstracts

P48 P48 Aniridia: overview of patients followed in São João Vision sreening systems for Hospital children Jorge Meira (Portugal) P32 Formation of visual perception in children diagnosed P49 P49 Ocular Manifestations of Mucopolysaccharidose with amblyopia . VI – A case-report Yevheniia Prus (Ukraine) Jorge Meira (Portugal) P33 Children’s with organic amblyopia and parent’s P50 P50 Sialidosis: a case report attitude in amblyopia treatment Ana Morales (Spain) Kristine Kalnica (Latvia) P51 P51 Bilateral vitreous hemorrhage in a neonate P34 Visual improvement with special tinted contact lenses with galactosemia: a rare complication with severe in achromatopsia . A case report . implications Una Epnere (Latvia) Stefaan Van Nuffel (Belgium) P35 Near vision screening in school age children P52 P52 Ocular manifestations of cystinosis in two siblings 12 . un 20 . Aiga Svede (Latvia) Eleni/Evangelia Koulali (Greece) P36 Overlooking - A sign not to be missed P53 P53 Challenges in patients with Down syndrome – a Kevin Falzon (UK) call for EPOS recommendations? Jennifer Robinson (Switzerland) Pediatric cataract P54 P54 Ophthalmic Manifestations of a 14 year-old Male with Kniest Dysplasia P37 Prevalence of Cerebrotendinous xanthomatosis in Juvenile Cataract cases in Turkey; A Retrospective and Stephanie Celucia (Philippines) Prospective Observational Study – GEN-EYE I Serdar Altinel (Turkey) Retinal diseases P38 OFCD (oculo-facio-cardio-dental) syndrome in special circumstances P55 P55 KIF11 Related Chorioretinopathy in Two Siblings Natalia Arruti (UK) Miriam Ehrenberg (Israel) P39 Pseudo-accommodation in twin brothers without P56 P56 A Unique Case of Internal Limiting Membrane amblyopia after monocular infantile cataract surgery- Wrinkling and Central Serous Chorioretinopathy in a case report Child Raluca Lacramioara Nitescu (Romania) Lucia Derriman (UK) P40 Functional outcomes in operated unilateral congenital P57 P57 Bilateral uveitis after BCG vaccination with and infantile cataract . generlized BCG infection . Daniela Eleonora Cioplean (Romania) Katrin Eerme (Estonia) P41 Cataract operation in children with chronic uveitis . P58 P58 Tubulointerstitial nephritis and uveitis syndrome Case series . in children: report of three cases Špela Markelj (Slovenia) Filipa Teixeira (Portugal) P59 P59 Idiopatic choroidal neovascularization in children Pediatric glaucoma Tatjana Kisil (Lithuania) P60 P60 Bilateral progressive equatorial linear streaks P42 Outcomes of Trabeculectomy Undertaken within the and unilateral subfoveal choroidal neovascularization First Year of Life for Reduction of Intraocular Ocular in a 5-year-old boy with multifocal choroiditis with Pressure in Primary Congenital Glaucoma panuveitis Eva Drucka (Latvia) Perrine Gillard (France) P43 Diplopia after Baerveldt glaucoma implant: A Case P61 P61 Pendular nystagmus in infancy may reveal an Early Report onset Severe Retinal Dystrophy Maria Elisa Luís (Portugal) Edouard Malandain (France) P62 P62 Unusual Stationary Night Blindness with fundus Genetic testing. Aniridia. Corneal changes . dystrophies. Cistinosis Vasily Smirnov (France) P63 P63 Coats-like disease with brain calcifications and P44 P44 Cornea plana-rare disease . Case report vascular abnormalities in both eyes in a 5 years old boy Una Epnere (Latvia) Arvydas Gelzinis (Lithuania) P45 P45 Fuchs Superficial Marginal Keratitis Managed P64 P64 The use of anti-VEGF for Coats disease treatment: With Crescentic Penetrating Lamellar Keratoplasty . review of 5 paediatric cases Doha Jbara (Israel) Arvydas Gelzinis (Lithuania) P46 P46 Peters Plus syndrome – big challenge in infants P65 P65 Stickler syndrome of two genetically confirmed Agne Krucaite (Lithuania) families in Estonia P47 P47 Microophthalmia, anterior segment dysgenesis Kadi Palumaa (Estonia) and PFV secondary to a heterozygous RARB variant Arundhati Dev Borman (UK)

96 Poster Abstracts

P1 P2

Diagnostic path in pediatric retina A case to the ERN-EYE CPMS panel: mystery case a subretinal haemorrhage in a

Sandra Kudina 1, Sandra Valeina 2, Svetlana Sepetiene 1, 14-year-old – why? Jekaterina Zaharova 2, Guna Laganovska 1 Delis Linntam , Janika Jürgens 1 Pauls Stradins Clinical university hospital East Tallinn Central Hospital Eye Clinic 2 Children’s Clinical university hospital

Introduction: The aim of this poster is to give an Introduction: Diagnosis of pediatric patient retinal overview of the first case from Estonia presented to lesions cause could be a challenge . In a country with the ERN-EYE CPMS panel . In September 2018 a 14-year- small population these findings might be statistically old boy presented to the eye emergency complaining considered even as a rare disease . Retinal lesions occur a shadow in the lateral visual field of the left eye. VA from wide range of different causes . Some are caused with his -4 D/‑3,75 D glasses was 1,0/1,0. IOP normal, by genetic disorder , inflammatory lesions caused by anterior segment SLE not remarkable . DFE revealed a bacteria , virus, fungi and parasites, lesions associated peripapillary subretinal haemorrhage OS, extending to with systemic diseases or tumors . Some are classified the parafoveal region . as a white dot syndromes, that are a group of idiopathic Methods: History showed no trauma, no past ocular multifocal inflammatory conditions involving the retina morbidities (aside from moderate myopia), no systemic and the choroid . Rarely retinal lesions are caused by illness . His development had been normal . Perimetry external light source or self inflicted harm. Even after the showed enlargement of the blind spot consistent with exclusion of all the possible causes the diagnosis is not the haemorrhage . Bulbus length was -25 mm OU (no high easy to establish . ERN- EYE CPMS and other networks of axial myopia) . USG showed no drusen . Laboratory work- rare diseases are very valuable opportunity that brings up was negative for any infectious or rheumatic diseases, together experts in rare eye diseases from different blood abnormalities . OCT revealed a peripapillary round countries to diagnose, treat and contribute in difficult prominence . Multiple FAGs and ICGs were performed patients cases individualy. to shed a light on the suspected underlying vascular Methods: The data of an aggressive, continuously pathology . Angiography showed small leaking vessels on developing retinal lesions in pediatric patient the disc . Due to BCVA dropping to 0,5 OS, he was treated was introduced to ERN-EYE CPMS . Meetings with with intravitreal anti-VEGF (Avastin) . BCVA returned international retina and genetic experts were held to 1,0/1,0 . After resorption of the blood, FAG+ICG and to analyse the possible diagnostics, diagnosis, and OCT-angio elucidated the chorioretinal pathology: an treatment options. abnormal tissue around the optic disc contains a ring of blood vessels that lie in the same depth with deep retinal Results: Patients: 13 year old female admitted to vascular plexus but are clearly supplied by shortPCA, and Children’s hospital of Latvia eye centre in August 2018 not the CRA . There appears to be a discrete translucid with central scotoma in her right eye, OD BVA 0 02,. OD sheath on the disc containing small leaking vessels . fundoscopy: white/yellow foveal lesion with soft borders . OD OCT- oedema in outher retinal foveal region . Treated Results: After obtaining informed consent, we with high dose of i/v steroids after all infectious cause presented the case to the ERN-EYE CPMS panel in hopes exclusion . After 3 months: sudden peripheral visual that a discussion with the invited specialists will soon decrease in her left eye. OS BVA 1.0 OS OCT findings: tiny give some clarity to the diagnosis . Our hypothesis is a point lesion at RPE level . OS Perimetry revealed circular unilateral congenital developmental anomaly, perhaps visual decrease, ruled out as functional changes . Few days residual Kuhnt´s tissue, containing blood vessels not later: admitted to Children’s hospital eye centre again fully regressed during hyaloid artery regression . The with sudden scotoma in her left eye . Fundoscopy: OD- abnormal tissue and vessels on the optic disc may be a retinal pigmented scar, OS-white/yellow central lesions variant of Bergmeister´s papilla . Although myopic CNV with soft borders in macula and paramacular region in is a far more common finding and can´t be ruled out, vertical pattern, OS OCT-oedema in outher retina . OU FA- we believe that the circumferential blood vessels and hyporeflactive and hyperreflactive lesions. Parents and the round tissue as a border surrounding the disc, is very grandparents were examined had no significant ocular atypical for CNV . changes. Conclusion: Estonia´s first case consulted in the ERN- Conclusion: 1) Making diagnosis might be challenging EYE CPMS, appears to be a hard nut to crack . Despite and acquire multidisciplinary approach 2) ERN-EYE is an not having any final results yet, we hope to present the excellent consultant in diagnosing difficult patients. poster with additional information after panel discussion .

97 Poster Abstracts

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Intraocular tumors, tumorlike Horizontal Gaze Palsy in a 7-year lesions and first noticed signs Old Girl among pediatric patients over 10 STEPHANIE CELUCIA year period in CCHUHH, Riga Jose R . Reyes Memorial Medical Center Lelde Ullase 1 , Sandra Valeiņa 2

1 Department of Ophthalmology, Pauls Stradins Clinical Introduction: Intracranial tumors present with different University Hospital systemic manifestations and ocular problems are rarely 2 Eye disease clinic, Children’s Clinical University Hospital, the first to symptoms to appear especially in children. Riga Pontine glioma is one of the highly aggressive tumors in children that is found in the pons which controls many of the most vital functions of the body. Introduction: in the pediatric population, a delay in Case Presentation: A 7 year-old female presented with diagnosis of intraocular lesions, even if benign, can lead a 4 week history of limitation in movement of both eyes to vision loss and deformity . Clinical signs that should accompanied by binocular diplopia . Patient was also raise concern include leukocoria, strabismus, decreased noted to have facial asymmetry and gait problems . In vision, etc. 3 weeks time, patient eventually complained of occasional headaches, weakness, vomiting and decreased appetite . Methods: a retrospective study held at Children’s Clinical On examination, visual acuity was 20/32 → 20/25 on the University Hospital, Riga . Patient histories were analyzed right and 20/40 → 20/32 on the left. Pupils were 2-3 mm from 01 .01 .2009 . till 31 .12 .20018 . Only patient histories with equally reactive to light . Extraocular muscles showed confirmed diagnoses were selected for further research. left horizontal gaze palsy and a 30 prism diopter right Windows Excel and PowerPoint was used to compare exotropia on primary gaze. Fundoscopic findings were and create tables . normal . Cranial MRI with contrast with fat suppression Results: altogether 25 patients with intraocular tumors was requested which revealed a 2.7 x 4 x 2.9 cm fairly or tumor-like lesions were detected: 2 with Coats retinitis defined T2/FLAIR-hyperintense T1-hypointense mass (one of them is being treated permanently in Lozanna), in the lower pons presumably glioma . There was no 10 with retinoblastoma, 3 of them bilateral, 3 retinal evident hydrocephalus . The orbit was unremarkable . hamartoma patients, 2 primarily persistent hyperplastic After 3 months of initial onset of symptoms, patient vitreous (further: PHPV), 1 retinal astrocytoma, 1 juvenile had difficulty of breathing and eventually died. Pontine xanthogranuloma on iris, 2 haemangioma choroidea, 1 glioma is highly considered due to the presentation melanoma choroidea . 2 patients with retinoblastoma of clinical manifestations in the patient, however, the have known positive family history (one of the child’s patient’s parents did not consent for biopsy of the mass. mother and other – grandfather) . Family members Conclusion: Pontine glioma is a highly aggressive and noticed first abnormal signs in 11 cases. 4 patients difficult to treat brain tumor which causes progressive noticed visual deterioration by themselves, in 3 cases neurologic symptoms including limitation of eye something unusual was noticed by other pediatric movements, facial asymmetry, difficulty walking and specialists while children were in the hospital because weakness of the extremities, which were seen in the of other illnesses . In only four instances lesions in the patient . 90% of children die from the disease within eye were seen in prophylactic visits . In visual acuity 2 years of initial diagnosis and less than 1% survive after examinations, 13 showed decreased vision . Nine patient’s 5 years. The widely accepted treatment is radiation mean visual acuity in affected eye was 0,171 and intact – therapy . Biopsy of the mass is highly suggested for the 0,944 (Visus, 6m), three patients – light perception and diagnosis of the disease, however, surgical resection is 1 – hand movements in the affected eye . For remaining impossible because of its location and diffuse growth children, preferentially looking card method was used . pattern . Conclusion: in half of the patients, changes in the eye were noticed by their relatives so we can deduce that the parent’s education level is fundamental A. neonatologist and general practitioner should do red reflex testing to all newborns and older children for early detection of vision- and potentially life-threatening abnormalities . Types of intraocular lesions, how they affect eyesight and children’s health is very various . Genetics will play a crucial role even more in the future to exclude or predict significant and even life-threatening diseases.

98 Poster Abstracts

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Focal Chemotherapy in Ciliary Delayed presentation of combined Medulloepithelioma: a case report hamartoma of the retina and

Marie-Claire Gaillard 1, Massimo Bongiovanni 2, Christina retinal pigment epithelium in the Stathopoulos 1, Jessica Sergenti 1, Susan Houghton 1, macula. Munier Francis 1 Agne Krucaite, Arvydas Gelzinis, Arunas Miliauskas 1 Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne Hospital of Lithuanian University of Health Sciences 2 Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland Introduction: Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) is a rare benign tumour of neurosensory retina and retinal pigment Introduction: Medulloepithelioma is usually characterized epithelium usually found in children . Surgical treatment by a fleshy ciliary body mass with intra-tumoral cysts of epiretinal membrane associated with CHRRPE is still a that can separate from the mass and float freely in subject of debate . the anterior chamber or in the vitreous . It is commonly treated by enucleation . Brachytherapy can be used in Methods: A case report . selected cases . We present a case of medulloepithelioma Results: A 7 year old female was referred to our department with anterior chamber seeding successfully treated by due to vision loss and changes in the fundus of her right intravitreal and intracameral chemotherapy . eye . Her last ophthalmic examination was normal one Methods: Case report . year ago . The referral diagnosis was toxocariasis . Best corrected visual acuity in the right eye was 0 15. . A grey Results: a 17- month-old boy with undetermined anterior solitary tumour with epiretinal membrane, tortuous chamber seeding and neovascular glaucoma OD was vessels and traction was found in the macula . Optical seen for second opinion after parental enucleation refusal . coherence tomography (OCT) showed signs of CHRRPE . Examination showed the presence of anterior chamber Pars plana vitrectomy was performed with epiretinal cysts as well as a subluxated and notched lens, which was membrane peeling . The macular traction was reduced highly suggestive of medulloepithelioma . UBM showed a and visual acuity remained stable after the surgery . non-infiltrating mass overlying the ciliary body between the 5 and 9 o’clock meridian and multiple nodules in Conclusion: CHRRPE can be diagnosed late as children the posterior chamber . The left eye was normal . The lack of ability to notice vision loss in one eye . OCT is cytological evaluation of the aqueous humour showed important in differential diagnosis of CHRRPE and aggregates of malignant small cells with high/nuclear follow up for cooperative patients . Surgical treatment of cytoplasmic ratio and finely granular nuclear chromatin. epiretinal membrane associated with CHRRPE is a safe The differential diagnosis was between anterior diffuse procedure to improve retinal architecture . retinoblastoma and ciliary medulloepithelioma . The immunocytochemical study for synaptophysin showed no expression, thus supporting the diagnosis of medulloepithelioma . The medulloepithelioma was successfully treated with 3 melphalan injections with a total dose of 70µg and 8 1µg. in the vitreous and posterior chamber respectively according to the safety-enhanced technique . Neovascular glaucoma progressed despite 8 anti-VEGF intra-vitreal injections and cyclophotocoagulation, necessitating trabeculotomy 3 years after the last melphalan injection . The only complication was cataract, operated at the same time as the trabeculotomy . At a 4-year follow-up since the last chemotherapy and 1 year after combined lensectomy- trabeculotomy, the tumour was inactive and the child remained metastasis-free with 0 03. Snellen VA and 10 mmHg IOP under topical antihypertensive treatment in OD . Conclusion: We report intracameral chemotherapy as a novel conservative option for medulloepithelioma anterior and posterior chamber seedings .

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Orbital capillary haemangioma Treatment of peri-ocular infantile with intra-cranial extension haemangioma with topical timolol

Aoife Naughton, Darius Hildebrand maleate in the developing world Oxford Eye Hospital, Oxford Aoife Naughton 1, Darius Hildebrand 1, Rosalind Jefferson 2 1 Oxford Eye Hospital, Oxford

Introduction: Intracranial capillary haemangiomas 2 Chitokoloki Mission Hospital, NW Province, Zambia are very rare entities, with only a few case reports in the literature . They have a capability for rapid growth . Symptomatic lesions can be treated surgically with Introduction: Infantile haemangiomas (IHs) are the radical excision or with radiotherapy or both . We present commonest benign tumours of infancy . Often self- a case of orbital capillary haemangioma with intra- resolving, they do not always require treatment . cranial extension causing an intermittent facial nerve However, peri-ocular IHs are commonly associated with palsy . An excellent outcome was achieved with medical complications such as ptosis, astigmatism and amblyopia, treatment with beta-blockers for 1 year . and thus require treatment to preserve visual function. The most widely used first line treatment of IH Methods: Case review of a patient with an orbital capillary is systemic propranolol . Serious adverse events haemangioma extending intracranially to involve the including cardiac arrest have been reported and cerebellopontine angle . regular cardiac monitoring is required . This poses a Results: An 8-week old baby presented to the Paediatric practical challenge in the resource-limited situation . Ophthalmology clinic with an expanding deep red Therefore, propranolol is often not available as a vascular lesion over the right temporal area since birth . treatment option for IHs in the developing world . Timolol maleate is a non-selective beta-blocker with A few weeks after birth, she developed right proptosis, potency 8-10 times greater than that of propranolol . The which continued to increase in size over the following solution is readily absorbed through the immature skin of weeks until review . The parents also noticed an an infant . Its lipophilic nature enhances transcutaneous intermittent right facial nerve palsy, with noticeable right penetration . When administered topically to the skin, it facial weakness and an inability to frown her right brow. has an excellent efficacy and safety profile and cardiac On examination, there was a large segmental plaque monitoring is not routinely required . In addition to this, capillary haemangioma overlying her right temporal availability and cost make timolol a viable treatment area, which was easily compressible . The right eye option for IHs in the developing world . showed marked proptosis with inability to close the eyelids completely, a secondary abduction deficit and Methods: Case review of a patient presenting to a right globe hypotopia . Amblyopia was suspected as she mission hospital in rural Zambia, with a high risk peri- had significant anisometropia and astigmatism of the ocular IH, involving the left upper and lower eyelid, right eye . Patching of the left eye was thus commenced . causing a secondary ptosis and visual axis obstruction. Urgent same day MRI imaging was arranged which Results: A 5-month old boy presented to a mission showed an extensive intra and extraconal lesion within hospital in Zambia with a large segmental IH involving the right orbit, with imaging characteristics in keeping the left peri-ocular region, extending posteriorly to the with capillary haemangioma. It also confirmed that left parietal region . The IH was causing a ptosis with there was an extension intracranially through the visual axis obstruction . Due to the associated high risk superior orbital fissure, with involvement of right of amblyopia, early treatment was commenced with Meckel’s cave and the cerebellar pontine angle . topical timolol maleate 0 .5%; three drops twice daily After consultation with the Neurology and Dermatology applied to the peri-ocular component of the IH . The skin team, combined treatment with propranolol systemically was cleaned before application . The solution was then and timolol maleate 0 .5% topically to the periocular spread with a finger over the lesion until all three drops area was commenced . Admission was arranged for were absorbed . Four months later, the size of the IH had commencement of oral propranolol 1mg/kg . Four months significantly reduced, the ptosis improved and there was later, the proptosis had completely resolved and the eye no longer obstruction of the visual axis . Treatment was movements were full. MRI confirmed total resolution of continued for 12 months, by which time the peri-ocular the proptosis with no evidence of any residual disease component of the IH had almost completely resolved. within the orbit or intracranially . Treatment continued to complete 1 year . Following cessation, there was no Conclusion: Timolol maleate drops are well tolerated recurrence . and constitute a safe, effective and easily administered alternative to systemic propranolol . This case emphasises Conclusion: Excellent outcome was achieved with beta the advantage of availability and safety of timolol in the blocker treatment with complete regression of the lesion . Third World, where propranolol is usually not usually an option .

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Effectiveness of topical timolol Retinal nerve fibre layer thickness maleate 0.5% solution in treatment analysis after sclerotherapy of acquired capillary hemangiomas treatment of orbital lymphatic

Kadi Palumaa, Svetlana Belova, Stina Tuubel malformations East Tallinn Central Hospital Maria Nieves-Moreno, Rachel Wells, Alex Barnacle Great Ormond Street Hospital

Introduction: The most common congenital vascular tumors of the periorbital region are capillary PURPOSE: To study the changes in the peripapillary hemangiomas, involution of this entity usually occur in nerve fibre layer (RNFL) thickness measured with the first decade. Acquired capillary hemangioma of the spectral domain optical coherence tomography (OCT) in eyelid is a very rare condition . Hormonal changes during children undergoing percutaneous sclerotherapy for the puberty can cause the development of vascular lesions treatment of orbital lymphatic malformations . and also trauma, and irritative agents may cause inciting factors for capillary hemangiomas . METHODS: A retrospective study was performed . The medical records were reviewed of all patients Methods: A case report of an 11-year old girl is presented . who underwent RNFL OCT (Spectralis SD-OCT) prior She complained of local redness on left lower eyelid area to sclerotherapy and at least three months after the for the last 6 months There. was no preceding trauma or treatment . All the patients underwent a complete skin rash . On slit-lamp examination, the local painless ophthalmological assessment before and after each reddish lesion of inferior eyelid skin was detected, procedure . Sclerotherapy was performed under without any prominence Topical. Timolol 0 1%. eyegel was general anaesthesia and under imaging control by an applied bid for 4 months, with minimal positive effect, interventional radiologist, instilling sodium tetradecyl then continued by Timolol maleate 0 .5% eyedrops tid for sulfate or bleomycin . Non-parametric tests were used to 5 months . analyse the data . Results: During last course, a regression of lesion was RESULTS: The study included five children who reported. Clinical evaluation of the treatment efficacy and underwent ten sclerotherapy procedures . Mean age = 10 photo documentation was obtained at 2, 4, 6, 9 months years. There were no statistically significant differences of therapy and 2 months after discontinuation of the between the visual acuity in the affected eye before and drug . after the procedures (LogMAR 0 10. ± 0 17. vs 0 8. ± 0 17,. Conclusion: Topical application of Timolol maleate 0 .5 % p=0 89). . The global thickness of the RNFL was 92 µm solution is easy and safe treatment option for congenital before and 85 µm after the procedures (p=0 79). . There or acquired capillary hemangiomas in childhood. were no significant differences in any of the six sectors of the RNFL analysis. CONCLUSIONS: No changes in the RNFL thickness were found in our cohort of patients after percutaneous sclerotherapy for orbital lymphatic malformations . This small study provides further evidence that sclerotherapy does not injure the optic nerve although larger prospective studies are needed .

101 Poster Abstracts

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Case series of Nanophthalmos Case of family with

Oliver Andreas Pfäffli 1 , Elena Lang 1, Katharina Steindl 2, blepharophimosis syndrome Samuel Koller 3, Wolfgang Berger 3, Christina Gerth- Olga Muhina 1, Inese Valeiņa 2, Sandra Valeiņa 2, Artur Kahlert 1 Klett 3 1 Dept of Ophthalmology, University Hospital Zurich, 1 Rīga Stradiņš university, Latvia Switzerland 2 Children’s Clinical University Hospital, Latvia 2 Institute of Medical Genetics, University of Zurich, Switzerland 3 Tallinn Central Hospital, Eye diseases clinic, Estonia 3 Institute of Medical Molecular Genetics, University of Zurich

Introduction: Blepharophymosis syndrome (BPES) is a rare Introduction: Nanophthalmos is a rare ocular condition congenital disorder characterised by palpebral phimosis, characterized by reduced age-adapted eye size with bilateral ptosis, epicantus inversus and telecantus . The shortened axial length (<21mm) and shallow anterior condition can be inherited as an autosomal dominant chamber depth (<3 0mm). . This usually results in bilateral trait with (type I) or without (type II) premature ovarian high hyperopia ranging from +8 00. to +25 00. diopters . insufficiency or accure sporadically. Diagnosis usually Although an otherwise normal eye function and anatomic is based on clinical features and management requires organization is assumed, nanophthalmos may be associated oculoplastic surgery . However, the timing and sequence of with additional or secondary pathological ocular findings. surgical correction is still ambiguous . The aim of this study Inheritance follows an autosomal dominant or recessive is to describe and to evaluate different surgical approachs pattern or appearance may be sporadic. in cases of mother and two daughters with BPES.

Methods: Patients with high hyperopia and suspected Methods: Inner intercanthal dictance (IICD), horizontal nanophthalmos were investigated clinically including palpebral fissure lenght (HPFL) and vertical palpebral corneal topography, enhanced depth imaging optical fissure height (VPFH) was measured before and after coherence tomography (EDI-OCT), optic coherence surgeries . Mother underwent right eye (OD) and then left tomography angiography (OCTA) of the macula, as well as eye (OS) epicantus surgeries using Z-plasty: in 1981 and autofluorescence and ultrasonographic imaging of the optic 1982 at age of 3, ptosis correction (Friedenwald-Guyton nerve head . Phenotypic characteristics were correlated with sutures) in 1983 . At the age of 8 she had m .levator palpebrae identified molecular-genetic results if available. superior resection . Oldest daughter had been performed with Mersilene mesh frontalis sling suspension to correct Results: A series of five patients of four unrelated families, poor levator function ptosis at the age of 2 and Y-V medial aged between 3 and 63 years were identified. Isolated or cantoplasty/cantopexy at the age of 8 . Youngest daughter syndromic presentations were found in 3 and 2 patients, underwent single-stage surgical procedure included respectively, whereof one patient of the latter was identified Y-V medial cantoplasty/cantopexy and frontalis sling of genetically proven and yet unreported association with suspension with Polypropylene suture . the Kenny-Caffey syndrome type 2 . The other patient with clinically syndromic appearance of unknown genetic Results: The data of mother’s IICD, HPFL, VPFH before origin suffers of predominant neurological abnormalities . and after surgery in childhood was not available, but in Beside the characteristically short bulbus, the five present pupillary distance(PD) is 59mm, IICD is 34mm, patients presented with a variety of ophthalmic concerns . HPFL in both eyes (OU) is 24mm and VPFH OU is 7,5mm . Leading signs at referral ranged from reduced vision, high IICD/PD= 0,58. Oldest daughter’s IICD decreased from hyperopia, chorioretinal folds, reduced foveal depression, 32 to 28mm (12,5%), HPFL OD increased from 17 to foveal subretinal fluid to recurring macula-involving bullous 20mm(11 76%),. OS from 15 to 18mm (20 0%),. VPFH OU retinal detachment . One patient presented with narrow increased from 3 to 6 mm (50,0%) . After second surgery on anterior chamber angle and pseudo-papilledema with 2017 PD was 44mm and IICD/PD= 0,73 . Now PD is 48mm prominent optic disc but none of the patients had increased and IICD/PD=0,67 Youngest. daughter’s IICD decreased intraocular pressure, signs of glaucoma, retinal dystrophy from 35 to 30mm (14,29%), HPFL OD increased from 15 to and none were found with optic nerve drusen . 17mm(13 33%),. OS from 13 to 16mm (23 08%),. VPFH OU increased from 3 to 6 mm (50,0%) . At the current moment Conclusion: Nanophthalmos can be the first presentation PD is 46mm and IICD/PD=0,76 . of a syndromic patient or present as an isolated ocular condition . The severity of ocular signs at referral seems Conclusion: Even with different surgical techniques of not to correlate with the syndromic phenotype . A regular BPES treatment there is a positive functional and cosmetic ophthalmologic follow up is advised as nanophthalmos outcomes . Combined and staged approachs provide good can lead to amblyopia and a range of secondary ocular results . Surgical materials, technologies, tools have been pathologies . Intraocular surgery is demanding due to improved in the past two decades . The progress of rare reduced bulbar size and prone to intra- and postoperative disease treatment requires the availability of information complications. exchange and transnational co-operation .

102 Poster Abstracts

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Congenital Blepharoptosis: An Monoka monocanalicular unexpected surgical complication intubation in the management of

Maria Elisa Luís 1, Diogo Hipólito-Fernandes 1, Ana Amaro 1, epiphora in children: case series Mara Ferreira 2, Ana Magriço 1, Alcina Toscano 1 Filipa Sampaio , Ágata Mota, Rui Carvalho , José Alberto 1 Centro Hospitalar Universitário Lisboa Central Lemos , Jorge Moreira , Sara Pereira 2 Hospital da Luz Hospital Pedro Hispano, Unidade Local de Saúde de Matosinhos

Introduction: Congenital blepharotosis is usually a non- progressive disease presenting unilaterally in 70% of Introduction: Congenital nasolacrimal duct obstruction the cases . Selection of surgical technique depends on (CNLDO) occurs in about 20% of infants, resolving in the the surgeon experience, degree of ptosis and action of majority of cases spontaneouslu or with conservative levator palpebrae superioris (LPS) muscle . The authors management until the age of 12 months . In cases present a case of a bilateral congenital ptosis with of persistent obstruction, simple probing remains postoperative complications . the traditional treatment . However, in those cases in which probing is not effective, Monoka technique of Methods: Patient case report . monocanalicular intubation has showed to be a simple Results: A male child was referred to Ophthalmology technique with high success rate. Department by moderate bilateral congenital Methods: We present clinical outcomes and blepharoptosis . Three years later he underwent a complications of a case series of Monoka monocanalicular LPS muscle advancement of the right eye (OD) with intubation (MCI) in infants between January of 2014 and incomplete correction . The left eye (OS) was submitted December of 2018. All cases had a failed primary probing. to supramaximal levator resection complicated by eyelash ptosis and an erosion of the central cornea . After Results: Intubation was performed in 7 infants, 3 months of conservative treatment a corneal ulcer with 2 female and 5 male. In three cases the intubation was hypopyon developed and resolved after hospitalization performed bilaterally and in 4 cases only unilaterally . All for administration of intravenous antibiotic therapy and had undergone simple nasolacrimal duct probing , at a fortified eye drops. The eyelash ptosis was surgically median age of 19 months old . Five children had CNLDO, corrected and one year later he was submitted to a LPS 1 case had also inferior lacrimal puncta stenosis and other resection OD (supramaximal) without complications . had CNLDO complicated with acute dacryociystiitis . The Currently he presents a good aesthetic and functional median age of MCI was 50 months (minimum age of result, with a better corrected visual acuity of 20/20 OD 3 months and maximum age of 13 years old). Median and 20/25 OS . follow-up was 23 months and the median time for tube removal was 3 months . The tube was removed in the Conclusion: Congenital blepharoptosis may lead to office by grasping the Monoka collarette with smooth amblyopia secondary to deprivation or uncorrected conjunctival forceps after topical anesthesia . Two cases astigmatism, requiring an early surgical correction . had recurrent symptoms after intubation . One was and Different surgical techniques are available and the best older child who had MCI at 48 months of age . The other surgical option is still controversial specially if levator was the 3 month old infant with CNLDO complicated function is close to or below 4mm . Supramaximal with dacryocystitis, who resolved after incision and resection is a valid option particularly if there is a good external drainage of lacrimal sac abscess . No case of Bell phenomenon . Mild complications of the eyelid corneal erosion or tube extrusion was reported. contour were described in 29% of cases and eyelash ptosis in 31% . The long-term aesthetic and functional Conclusion: MCI is a simple and safe procecure, with high results are good . The authors emphasize the importance success rate even when simple probing is not effective . of reporting this case as an alert for unforeseen results The duration of the procedure is not longer than of and their orientation . simple probing, nor is the technique more complicated than the one performed during the intubation . The reported overall success of MCI is 96%, but recurrence is higher in patients after the age of 24 months old .

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Bilateral frontoethmoidal Can you HaNDL the Truth? encephalomeningoceles below Gad Dotan, Rachel Straussberg, Yacov Bistritzer medial canthal tendons emulating Schneider Children’s Medical Center of Israel tear duct pathology. A case report.

Maris Viksnins, Bassel Yaacoub, Sandra Valeina Introduction: The Syndrome of transient Headache Children’s clinical university hospital, Riga, Latvia and Neurological Deficits with cerebrospinal fluid Lymphocytosis (HaNDL) is a rare headache disorder, seldom reported in the pediatric population, with an Introduction: Sincipitial (frontoethmoidal) unrecognized pathogenesis . encephalomeningoceles include nasofrontal, Case presentation: A 17 years old girl presented nasoethmoidal and nasoorbital EMC . Nasoethmoidal with recurrent episodes of headaches accompanied EMC are located lower and their differential diagnosis by vomiting, aphasia, sensory symptoms of hemi includes dacriocystocele . paresthesia, bilateral blurred vision and papilledema Methods: Case review of a 2 week old girl who was in the past two years . Her visual acuity on presentation brought at emergency room with complaints of was 6/6 in both eyes, with nasal scotomas in both epiphora, discharge from eyes and bulging masses near visual fields. Brain MRI was normal. The Intracranial eyes . During the examination it was noted that masses pressure was measured high at 70 cmH20, and the CSF are located below medial canthal tendons and working demonstrated >300 lymphocytes . All CSF and serum- diagnosis of bilateral dacryocystoceles was made . based microbiological tests were normal . She was treated Patient was scheduled for NLD probing on the same day . with 2gr/day Acetazolamide and pulse solumedrol 1gr/ Before NLD probing physical examination was repeated . day for three days leading to a gradual resolution of her Masses felt firm and their location was rather close to symptoms, papilledma and visual field defects. the nose . Decision was made to postpone probing of Conclusion: Handl syndrome is relatively new disorder NLD and patient was forwarded for MRI examination . classified by International Classification of Headache At MRI bilateral EMC were revealed and at six month both Disorders, as headache associated transient neurologic EMC were closed by neurosurgeons in two surgeries . At symptoms, and CSF lymphocytosis . Papilledma and first frontonasal encephalocele resection and duroplasty visual symptoms are common, often leading to initial was done which was followed by repeated revision assessment by ophthalmologists that should be aware surgery due to cerebrospinal fluid leak from the wound, of this recent entity . resulting in performing a craniotomy and anterior fossa defect closure with fibrin glue and myofascial flap. Results: Following the last surgery no further CSF leak was noted, the operation wounds healed fully . The periorbital bulging fully dissapeared, allowing adequate opening of the eyelids . The mucopurulent secretions continued to periodically appear . A control MRI scan was performed at age of 12 months, which affirms full closure of the anterior fossa . As complaint of epiphora remains, a control revision of the tear ducts is planned later and endonasal dacryocystorhinostomy is considered . Conclusion: In patients with suspected dacriocystocele nasoehtmoidal EMC must be considered in differential since clinical signs might be similar but treatment is different . Agressive tear duct probing could lead in such cases to CSF leaks and secondary central meningitis . A MRI scan is advisable in the setting of a newborn with increasingly bulging soft tissues around facial bone sutures to rule out this possibility .

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A Comparison Between Standard Peripapillary subretinal And Ultra-Widefield Optos hemorrhage in a healthy young Autofluorescence To Identify Optic patient with factor VII deficiency

Nerve Head Drusen In Children And Margarida Brizido , Beatriz Nunes , Susana Pina , Ana Rita Adolescents Azevedo , Ana Almeida

Lampros Lamprogiannis, Ariane de Lassus, Brinda Hospital Beatriz Angelo, Loures, Portugal Muthusamy

Cambridge University Hospitals Introduction: Aside from their association with optic disc drusen or intrapapillary bleedings, peripapillary subretinal hemorrhages (PSHs) have been described Introduction: Optic nerve swelling, identified in the as a benign monocular syndrome in otherwise community can be a source of concern and optic nerve asymptomatic myopic patients with crowded tilted head drusen is an important differential diagnosis . optic discs . PSHs have been considered the result Fundus autofluorescence is a recognised and reliable of an interplay of external forces generated by eye imaging modality to identify both buried and evident movements, thinning of the sclera and tractional forces optic nerve head drusen. of the vitreous acting on a vulnerable optic disc that may be morphologically predisposed to hemorrhage . Methods: We carried out a proof of concept case series Typically, PSHs do not cause visual symptoms and resolve comparing the reliability of Ultra-Widefield Optos spontaneously without sequelae over 3-6 months . autofluorescence in the non-mydriatic eye with a standard autofluorescence in a mydriatic eye. Patients Methods: We describe a case of PSH in an 11-year-old were photographed prior to dilation of the pupils with female with no previous medical history who presented Ultra-Widefield Optos imaging with autofluorescence to a routine examination with complaints of decreased and subsequently dilated and an OCT, standard distance vision . autofluoresence imaging and optic nerve photographs Results: On examination, best-corrected visual acuity was were taken as per usual practice . 1 .0 in both eyes . Dilated funduscopic examination revealed a PSH in the left eye . It was located along the nasal Results: Both imaging modalities compared are able to margin, spanning a third of the optic disc circumference . equally identify optic nerve head drusen . Both discs were crowded and temporally rotated . Conclusion: Ultra-Widefield Optos autofluorescence There were no intrapapillary hemorrhages perceived. imaging is a reliable diagnostic tool in the identification Spectral domain optical coherence tomography identified of optic nerve head drusen . It is non-contact and does subretinal hemorrhage under the neurosensorial retina . not require mydriasis as demonstrated in this case series Fundus autofluorescence showed localized peripapillary making it a possible tool to be used in the community hypoautofluorescence. No visible signs of optic disc setting . drusen by ophthalmoscopy or by ultrasonography were identified. Laboratory testing revealed slightly decreased factor VII (FVII) activity (68% - reference range 70-130% - with oscillating follow-up levels of 58-75%) . The remaining coagulation tests were normal . Further investigation revealed a family history of bleeding disorders, namely Von Willebrand disease in second-degree relatives and a poorly characterized thrombocytopenia in the father . A conservative approach was favoured . Five months after the initial assessment, the subretinal hemorrhage was resorbed and a thinning of the retinal nerve fibre layer at the left nasal quadrant was noticed . It remained unchanged thereafter . Conclusion: A possible connection between FVII deficiency and PSH has not been previously stablished in literature. FVII deficiency is a rare multifaceted defect. Although clinical manifestations rarely appear when FVII is above 30%, they do not correlate well with FVII levels . Therefore, we hypothesize that the deficiency may have favoured the bleeding in a crowded tilted optic disc that was already morphologically more susceptible to hemorrhage .

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Bilateral optic neuritis associated Patients with Fazio-Londe with Mycoplasma Pneumoniae syndrome and reduce visual acuity

Ana Morales Becerra, Julia Escudero Gómez , Fátima Vineta Aizkalne , Rometa Valtere , Sandra Valeina , Liga Borrás Larrubia , María Isabel Pérez Cabeza , Guillermo Berke, Gita Taurina Luque Aranda Children’s Clinical University hospital Hospital regional universitario Carlos Haya (MÁLAGA)

Abstract: Fazio Londe Syndrome is a rare neurological INTRODUCTION: Pediatric optic neuritis is an disorder presenting with progressive bulbar palsy with inflammation of the optic nerve, often presents respiratory failure . Is now found to be due to mutations in bilaterality, poor visual acuity and papillitis . It is rare in the SLC52A3 gene which encodes the intestinal (hRFT2) comparison to adults . Optic neuritis in children may riboflavin transporter in some children. We report an be an idiopathic event, an autoimmune response 8-year-old child with features of Fazio Londe syndrome who to infection or immunization, or a manifestation of a presented to our Children’s Clinical University hospital with systemic demyelinating disorder . respiratory failure and reduced visual acuity . Introduction: Fazio Londe disease is a rare variant of the CASE REPORT: 5 years old boy patient consults for common neurodegenerative disorder. loss of visual acuity (VA), headache and left eye pain . Ophthalmological examination shows a VA right eye Case report: The boy was hospitalisated at 10 months . age (RE) 0,1 and VA left eye (LE) 0,1; normal anterior segment; (2011) with respiratory distress, drowsiness, progressive normal intrinsic and extrinsic ocular motility; ocular instability, eyelid ptosis . The baby was born healthy . The only fundus examination (OF) shows optic disc edema child in the family . Family history does not have a congenital, stage II-III . Was diagnosticated Optic neuritis and was hereditary or neurological disease . During hospitalization requested complete laboratory test, ocular ultrasound, increases respiratory failure . Radiologically detected magnetic resonance imaging (MRI) of the brain and orbits (RTG) aspiration type pneumonia and bronchial drainage (MR), lumbar puncture and cerebrospinal fluid analysis disorders. When oxygen satura-tion decreases, artificial (CSF) . It was began intravenous corticosteroids respiration begins, after 10 days tracheostomy is was done . treatment for 3 days (and then oral steroid taper) and No data on congenital heart disease, abnormal changes it was added Azithromycin by positive result of IgM in abdominal organs . Geneticists conduct counseling and, after the prescribed examinations, concluded that there is a Mycoplasma pneumoniae . The patient presented a metabolic disorder - Multiple acylococcal A dehydrogenase good response to the treatment with visual recovery, deficien-cy. Eye doctor consultation (2011) - No signs of but with slight temporary pallor in the optic nerve inflammation of the eye, pups symmetrical. F.oc.: OU RND of both eyes with a decrease in the thickness of the pale pink, border sharp, blood vessels and retinal pathology nerve fibers and the ganglion cells in the optical not seen. In 2016, the eye doctor finds lower vision. coherence tomography . Status Ophthalmicus: CONCLUSION: Diagnostic work-up is important in children due to multiple etiologies . We must rule Far vision: Vod 20/100 nc ./ Vos 20/70 nc . out all possible diseases Treatment. of pediatric optic Near vision: Vod 20/50 nc . / Vos 20/nc . neuritis is controversial, but in own experience, initial corticosteroids together with etiological treatment, Colortest vison 100%, stereovision – no (LANGE I), children have good evolution . Convergence- norma . AT Far vision/near vision esotropia Bagolini tests- pozitive . Vorsa test show binocular vision aBagolini tests- pozitive . Vorsa test show binocular vision appear . Autorefractometer (after Sol Cyclogyl) .: Od +1,00 +0,25 30 Os +0,5 -0,75 50 Vison fields 2017.y. un 2018.y. OU NO changes. OCT (2018 y . . April): RND changed, whitish, temporal fiber reduction (RNFL), the macula structure and shape preserved . Suspected secondary subatrophies of both eyes . Conclusion: Breathing disorders are described more in literature, but the function of decreased visual visual acuity is not mentioned .

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Optic disc pit maculopathy Neuronal Ceroid Lipofuscinosis 3:

Vilma Jurate Balciuniene, Tatjana Kisil, Arvydas Gelzinis, from early foveopathy to systemic Reda Zemaitiene involvement

Dep . of Ophthalmology, Lithuanian University of Health Sabine Defoort-Dhellemmes 1, Vasily Smirnov 1, 2, Bernard Sciences Puech 1, Jean-Marie Cuisset 3 1 Exploration de la Vision et Neuro-ophtalmologie, CHRU Introduction: Optic disk pit (ODP) is a rare congenital de Lille, F-59000, Lille, France abnormality of the optic nerve head . It can be 2 Université de Lille, Faculté de Médecine, F-59000, Lille, complicated by a macular detachment associated with France progressive visual loss . Serous maculopathy can occur in 25-75% of OPD . 3 Neuropédiatrie, CHRU de Lille, F-59000, Lille, France Methods: Case report Results: 11 years old girl with a complaint of right eye Introduction. Neuronal ceroid lipofuscinosis (CLN) blurred vision was referred to our clinic . From the is a group of lysosomal storage disorders leading to anamnesis there was a head ache before complaint . widespread neuronal degeneration . In juvenile CLN3 or Her best corrected visual acuity BCVA (Snellen chart) Batten disease visual symptoms are first to be noted. of the right eye was 0 2. and and 1 0. of the left eye . On Specific retinal findings in a family with CLN3 are fundoscopic examination a temporally located ODP reported in this paper. associated with serous macular detachment was Patients. 3 siblings from one family are reported . detected in the right eye, while no pathological changes Evolution of retinal dystrophy (multimodal imaging, ERG) were seen in the left eye . OCT revealed optic disc pit and general clinical findings are described. Foveopathy maculopathy in the right eye . Macular thickness was and negative ERG are the most specific signs at early about 960 μm. Patient was treated with argon laser stages of retinal involvement in CLN3 . photocoagulation 3 times and NSAID (Nonsteroidal anti-inflammatory drug). After 6 months there was no All patients harboured a compound heterozygous significant optic nerve pit maculopathy regression. Next mutation in CLN3: c.176C>T/c.1247A>G. 6 month patient was followed using carboanhydrase Conclusion. CLN3 should be suspected in children with inhibitors (CAI) Dorzolamide drops 3 times a day and progressive worsening of visual acuity, maculopathy and macular thickness decreased by 700 μm. OCT imaging negative ERG. Neurological findings are delayed and less showed resolution of serous macular detachment, CRT specific. 260 μm, BCVA increased up to 1.0. The patient is still observed and there is no progression . Conclusion: The development of OPD in childhood is rare and can cause visual impairment . The management of it remains challenging . Our case shows that laser photocoagulation and long term treatment with CAI drops can effectively help to regress serous maculopathy, to prevent or at least delay surgical treatment .

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Optical coherence tomography Geneticaly approved papillorenal angiography in children with syndrome combined with optic neuritis, multiple sclerosis suprasellar craniopharyngioma or neuromyelitis optica spectrum Jekaterina Zaharova, Svetlana Semaka, Sandra Valeina, disorders Bassel Yaacoub Wehbe, Gita Tauriņa

Joanna Jedrzejczak-Mlodziejewska, Wojciech Hautz Eye Diseases clinic, Children’s Clinical University Hospital (CCUH) Children’s Memorial Health Institute

Introduction: Papillorenal syndrome, also called renal- Introduction: The purpose of the study is to evaluate coloboma syndrome or isolated renal hypoplasia, relation between changes in retinal microvasculature, is an autosomal dominant disorder marked by RNFL and GCC in children with demyelinating underdevelopment (hypoplasia) of the kidney and inflammatory diseases. colobomas of the optic nerve . Eye anomalies associated with PAX2 mutations consist of a wide and sometimes Methods: The optical coherence tomography excavated dysplastic optic disc with the emergence angiography (AngioVue, Avanti OCT; Optovue) was of the retinal vessels from the periphery of the disc, performed in children with optic neuritis (at least designated optic nerve ‘coloboma’ or ‘morning glory’ 3 months following the onset), multiple sclerosis with anomaly. Associated findings may include a small history of optic neuritis, multiple sclerosis without history corneal diameter, retinal coloboma, scleral staphyloma, of optic neuritis and Devic’s disease (neuromyelitis optica optic nerve cyst, microphthalmia, and pigmentary spectrum disorders) . Vessel density in macular region macular dysplasia. and optic nerve head was performed and correlated with RNFL and GCC findings. Case report: A 14 – year– old female patient, referred to Children’s hospital with a decreased vision in the right Results: In children with inflammatory demyelinating eye . The left eye has low vision from birth . Best corrected diseases changes in RNFL and GCC correlate with visual acuity was 0,2 on the right eye, and 0,05 on the left disturbance in vessel density in foveal region . eye . The patient was hospitalized for the more detailed Conclusion: AngioOCT is a useful noninvasive tool for general examination, including OCT - optical coherence tomography, ICON fundus camera, visual fields, evaluation of changes in retinal microcirculation in electrophysiology, fluorescent angiography, quantitative children with demyelinating inflammatory diseases. color vision test, MRI - magnetic resonance, and genetic consultation . Examination showed: microcornea on both eyes and unilateral left eye microphthalmia . Optic pits are present in both eyes, optic nerve dysplasia (Morning glory type) is evident, intraretinal cysts were found in the left eye macular region, right eye macula is almost undetectable, atrophy of neuroretinal and choriocapillary layers is presenting with secondary changes of retinal vessels . Severe myopia and astigmatism mostly in the left eye, secondary monolateral exotropia . The monochromatic vision was established . Unknown etiology suprasellar acanthomatous craniopharyngioma with influence at both optic nerves was observed on MRI . The patient underwent laser coagulation therapy to the papillomacular bundle, that resulted in stabilization of visual acuity . The subtotal tumor resection was performed . Genetic tests revealed that the patient is heterozygous for PAX2 c 76dup,. p .(Val26Glyfs*28), which is pathogenic . Conclusion: Disease caused by PAX2 variants is inherited in an autosomal dominant manner, and thus each child of an affected individual has a 50% chance of inheriting the variant and of being affected . Genetic counseling and family member testing are recommended . A proband with autosomal dominant PAX2-related disease may have the disorder as the result of a de novo event .

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Papillorenal syndrome with Organization, experience of secondary serous retinal observation and treatment of detachment: family history can premature infants in the S.N. help the diagnosis Fyodorov IRTC “Eye microsurgery”

Françoise ROULEZ FSAI of the Ministry of Healht Care of Russia Augenklinik Universität Spital Basel Kseniya Belousova, Dar’ya Mamulat, Mihail Sharohin, Igor Plisov, Natal’ya Antciferova, Valentina Solovyova Introduction: Cavitary congenital optic discs anomalies include optic disc coloboma, optic disc pit, morning S.N. Fyodorov IRTC “Eye microsurgery” FSAI of the glory syndrome and papillorenal syndrome . Optic disc Ministry of Healht Care of Russia aspect and retinal complications are often very similar Methods: Case report of a young boy with bilateral congenital malformation of the optic disc and secondary Introduction: To analyze the effectiveness of the exsudative maculopathy . algorithm used to monitor and treat premature infants Results: Optic disc morphology and slow spontaneous Methods: In the period 2014-2017 under the supervision resolution of the serous retinal detachment is illustrated . of ophthalmologists from our clinic there were Family history and father examination oriented towards 903 premature babies. Retinopathy of prematurity the diagnosis of papillorenal syndrome . detected in 302 patients . Laser photocoagulation was required in 78 cases . Repeated interventions were Conclusion: Characteristic optic disc features of the performed in 13 patients . Induced regression of the syndrome is described . Patients with multiple cilioretinal disease occurred in 72 children . The development of the vessels should be evaluated to identify the sometimes 4-5 stage of the active phase of retinopathy of prematurity serious renal abnormalities in papillorenal syndrome . occurred in 6 patients . In 4 cases, the development Early diagnosis is important, because prophylactic of the 4-5 stage of the active phase of retinopathy of systemic antihypertensive treatment can limit renal prematurity occurred in the case of posterior aggressive morbidity . retinopathy Results: The teamwork of ophthalmologists and neonatologists, timely and complete examination, reveals early signs of retinopathy of prematurity . Timely laser photocoagulation reduces the risk of disability, development of blindness and low vision . Conclusion: Reducing the number of laser photocoagulation carried out with an unchanged number of examinations, a low number of patients with terminal stages of the disease testifies to the high effectiveness of monitoring and treatment of children with retinopathy of prematurity

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Ocular Findings and Growth in Retinopathy of Prematurity – 5-year-old Preterm Children Born to review of screening criteria

Mothers with Preeclampsia Filipa Sampaio, Ágata Mota, José Alberto Lemos, Rita Gonçalves, Pedro Coelho, Jorge Moreira Marita Andersson Gronlund 1, Alexnadra Lind 1, Kerstin Allvin 2, Lina Raffa 2, Eva Aring 1, Jovanna Dahlgren 2 Unidade Local de Saúde de Matosinhos 1 University of Gothenburg

2 Institute of Clinical Sciences, Sahlgre Introduction: Retinopathy of prematurity (ROP) is a retinal vascular disease of premature newborns (PNB) . 3 King Abdulaziz University Hospital In Portugal, the main screening criteria of ROP are gestational age (GA) < 32 weeks and/or birth weight (BW) ≤1500g. We aim to study if the restriction of ROP Introduction: The purpose of this study was to evaluate screening criteria to GA<31 weeks and/or BW<1300g growth, blood pressure, and ophthalmological status would be able to identify effective and safely the cases in in preschool children born preterm to mothers with need of treatment. preeclampsia . Methods: A retrospective study of all PNB screened Methods: In a prospective cohort study, 78 children between January 2014 and December 2016 in our (34 girls) born preterm without retinopathy of institution, was developed . Gender, GA, BW, ROP risk prematurity (ROP) were examined regarding length/ factors, disease, stage, zone, Plus disease, ROP treatment height, weight, head circumference, and insulin- and progression in the follow-up consultation were like growth factor I (IGF-I) at birth and at 5 years of analysed . age. At 5 years, also IGF binding protein 3 and blood pressure were measured . A detailed ophthalmological Chi-square tests to evaluate statistical differences of ROP examination including ocular dimensions, fundus between the groups were performed . For all tests the morphology, visual fields, visual evoked potentials, and p value of <0,05 was defined as statistically significant. perceptual visual dysfunction was performed . Children Results: A sample of 91 PNB was studied, 45 (49,5%) were born to preeclamptic mothers (n=24) were compared to female and 46 (50,5%) were male, with an average GA of children with non-preeclamptic mothers (n=54). 30 weeks + 3 days and average BW of 1280g . ROP was Results: Children exposed to preeclampsia had lower identified in 42 (45,1%) of the cases, with only 2 (4,9%) weight (p<0 0001,. 95% CI -2 05. to -0 72),. length (p=0 006,. cases of Plus disease detected and 7 (17%) cases needing 95% CI -1 81. to -0 29),. and IGF-I (p<0 0001,. 95% CI -37 to to be submitted to laser photocoagulation . -17) at birth . In both groups, IGF-I correlated with length Above the 31 weeks (n=42), 11 (26,2%) cases had ROP, (p=0 01,. r=0 .52; p=0 005,. r=0 .37), weight (p=0 0002,. r=0 70;. with no cases of stage 3 disease . There were no cases p=0 0003,. r=0 47),. and head circumference (p=0 04,. of ROP in zone I and 9 (81,8%) of the cases had zone II r=0 42;. p=0 007,. r=0 36). at birth . The preeclamptic group disease . There were no cases of Plus disease or in need had larger optic cup areas (p=0.0006, 95% CI 0.15 to 0.46 in of treatment with photocoagulation in these gestational right eye; p=0 04,. 0 01. to 0 35. in left eye) . There was no groups . In the NB with BW>1300g (n=45), ROP was significant difference regarding other ophthalmological identified in 10 (22,2%), none in stage 3; only 1 (10%) case findings or blood pressure. Children with reduced eye involved zone I and 6 (60%) cases had disease in zone II . motility had lower neonatal IGF-I (p=0 03,. 95% CI -31 0. to One (10%) case presented with Plus disease, with ROP in -1.0). zone I, being submitted to treatment . This same case had Conclusion: Preeclampsia was shown to effect growth a GA of 30 weeks . The differences between groups of GA and IGF-I, supporting previous studies . Lower neonatal and BW were statistically significant (p<0,05) relatively to IGF-I were seen in preterm children with reduced eye ROP, stage and zone . motility at 5 years of age . Furthermore, children exposed Conclusion: According to this study, the restriction to preeclampsia were found with larger optic cup areas. of screening criteria of ROP to GA<31 weeks and/or BW<1300g would not neglect any case of severe ROP in need of treatment.

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Visual perception is affected in Optical Coherence Tomography prematurely born children in young Angiography in children with artery adulthood occlusion

Dýrleif Pétursdóttir 1, Birgitta Böhm 2, Gerd Holmström 1, Agnieszka Czeszyk Piotrowicz 1, Joanna Golebiewska 2, Eva Larsson 1 Wojciech Hautz 1 1 Institution of neuroscience / ophthalmology, Uppsala 1 Children’s Memorial Health Institute, Warsaw University 2 Department of General and Experimental Pathology, 2 Department of Women’s and Children’s Health, Warsaw Karolinska Institute

Introduction: The aim of the study was to evaluate Introduction: To assess visual perception in young the role of optical coherence tomography (OCT)-based adults previously included in a prospective study on the angiography (OCTA) in the diagnosis and monitoring of incidence of retinopathy of prematurity (ROP) . pediatric patients with retinal artery occlusion (RAO) . Methods: The study encompassed 59 young adults born Methods: This retrospective study was conducted at in 1988-1990 with a birth weight of ≤1500 g, previously the Department of Ophthalmology, The Children’s included in a population-based study on the incidence Memorial Health Institute, in Warsaw between March of ROP and in a 10-year follow-up . A control group of 2015 and May 2016 . Every patient underwent a complete 44 individuals of the same age (25-29y) born at term ophthalmological examination . The diagnosis of was recruited . An ophthalmological examination was the disease was based on fundus examination and performed. Thereafter the participants filled in the Beery fluorescein angiography (FA). OCT and OCTA were visual-motor integration (VMI) test of visual perception, performed at baseline and every follow-up visit. which includes three subtests: copying, perception and Results: Four patients (4 eyes) (2 boys/2 girls, age motor skills . The scores of the subtests were analysed 8-16 years) with RAO were enrolled in the study. In all with regards to prematurity, visual acuity, previous ROP cases, initial OCTA images revealed typical ischemic and neurological complications at 2 .5 years of age . changes in superficial and deep retinal capillary plexuses. Results: There were differences between the study Follow-up OCTA revealed increasing areas of ischemia in and control groups in all three subtests, copying the RAO region and persistent narrowing of the arteries. 85.5 vs 98.0 (P<0.001), perception 95.3 vs 101.7 (P=0.003) Conclusion: OCTA enables clear visualization of and motor coordination 90 .9 vs 97 6. (P=0 008). . Both progressive impairment of the retinal vascular perfusion distance and near visual acuity correlated with the Beery in children with RAO and may be an alternative to the scores . Within the study group there were no differences standard FA . regarding the degree of prematurity or previous ROP . Individuals with neurological complications at 2.5 years had significantly lower results on copying 70.9 vs 87.8 (P=0.004), but not on perception or motor skills . Conclusion: Being born preterm seems to have life- long effects . This study shows that visual perception was affected in prematurely born individuals in young adulthood. Whether these findings have implications on daily life activity cannot be concluded .

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Adverse events during fluorescein Formation of visual perception in and indocyanine green children diagnosed with amblyopia. angiography in children Natalia Malachkova, Yevheniia Prus Elisa Marziali, Becky MacPhee, Patricia Ibanez, Dhanes VNPMMU, Ukraine Thomas, Annegret Dahlmann-Noor Moorfields Eye Hospital Introduction: Amblyopia is characterized by a decrease of the main visual functions, mainly the visual acuity, without apparent pathological changes in the eye, Introduction: There is little published evidence about happens due to restriction or deprivation of visual safety of fluorescein and indocyanine green angiography afferentation . Deprivation is caused, as a rule, during the in children . In 2016, we introduced a local protocol, and development of the visual system . One of the important here review and classify adverse events during retinal indicators of functional development is the level of visual angiography in children . perception, which determines the success of mastering Methods: Paediatric imaging specialists prospectively the basic skills of writing and reading at school . Early collected adverse event data for 114 children age 5 to diagnosis, prediction of school problems and the 17 years who underwent intravenous or oral fluorescein correction of difficulties in the learning process require angiography (IV-FFA, oral FFA) or indocyanine green an objective assessment of the functional development (ICG) angiography between January 2015 and November of children . 2017 at Moorfields Eye Hospital, London, UK, without Methods: 31 children aged 7-8 years with a diagnosis sedation or general anaesthesia . Eighty-two children of amblyopia of different degrees participated in the received a single bolus dose of intravenous fluorescein study . Control group (21 people) consisted of children 10mg/kg (Moorfields Pharmacy). Ten children received of the same age without vision pathology . The health oral fluorescein 20 mg/kg. Twenty-two children received states for each eye were defined according to BCVA and a single bolus of intravenous indocyanine green, with without correction . Determination of the level of visual two age-dependent dosages: children age 0 to 11 years perception was carried out according to the method of received 0 1. mg/kg, those age 12- 15 years, 0 .2 mg/kg . M . Bezrukykh . Results: The incidence of adverse events associated Results: The results of the study showed that visual acuity with IV-FFA was 31 7%. . Most (97 3%). of these were mild, has correlation relations (p <0,05) with the development including nausea, vomiting, both nausea and vomiting, of short-term memory, noise level and informativeness . itchy skin and extravasation . The remaining 2 7%. were When conducting the “Noise Shapes” test, where severe adverse reactions, such as bronchial spasm . After cortical synthesis was being studied, it was determined oral FFA, the incidence of adverse events was 10% (all that the results depend on mono- or binocular lesion . In mild: vomiting), and after ICT, 4 .54% (mild: itchy skin the comparison groups, the results in the experimental and hot flushes, in the same patients). There were no group are significantly lower in determining the reaction cardiovascular events or deaths . to the moving object (p <0 05). . Relatively worse are Conclusion: Intravenous and oral FFA as well as indicators in the research group in relation to control intravenous ICG angiography appear to be safe, and the productivity and attention sustainability, attention risk of serious adverse events is low . The incidence of concentration level and pace of performance during the adverse events is lower when fluorescein is administered corrective test (p <0,05) . orally, but the quality of FFA images is often better after Conclusion: In case of a significant reduction of the intravenous administration . visual acuity level, the functions of visual perception of children aged 6-8 years have not yet formed . The level of visual perception development is lower with children with binocular lesion in relation to children with monocular lesions and depends on the degree of amblyopia . Children with the high and medium degrees of amblyopia have a faster depletion of neuropsychic processes, indicating functional immaturity and makes it possible to consider the diagnosis of amblyopia as a systemic lesion of the central nervous system . Early systematic education of children diagnosed with amblyopia requires attention not only from doctors, but also by teachers and psychologists .

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Children’s with organic amblyopia Visual improvement with and parent’s attitude in amblyopia special tinted contact lenses in treatment achromatopsia. A case report.

Kristine Kalnica, Ilze Dilane, Andzella Gintere, Biruta Osa, Una Epnere, Irina Zakutajeva Sandra Valeina Children’s Clinical University Hospital Eye diseases clinic Children’s Clinical University Hospital Riga

Introduction: Amblyopia or a disorder of early Introduction: Achromatopsia is a rare, non-progressive development of the brain cells results in decreased and hereditary visual disorder which is characterized visual acuity in one or both eyes that cannot be simply by the absence of color vision, decreased vision, improved by refractive correction . Organic amblyopia photophobia and nystagmus . It is caused by absence of is irreversible . It occurs due to organ damage like optic functioning cones in the retina . atrophy, hypoplasia, coloboma of optic nerve and etc . Patients with achromatopsia are only able to perceive The aim of this study was to assess the efficiency of black, white and gray shades colors . occlusion therapy in the treatment of organic amblyopia and parental awareness of the need for amblyopia Vision is much better in dim illumination -day blindness . treatment . High hyperopia, esotropia are common, fundus examination usually is normal . Methods: Small study was carried out from January 17 to March 17, 2019, through a structured questionnaire to This condition affects approximately one in assess the level of knowledge and attitude of parents of 30,000‑40,000 live births . Currently there is no cure for children suffering from organic amblyopia achromatopsia . Research on gene therapy is ongoing and may lead to clinical treatments in the future . Dark Results: One hundred parents of children with spectacles or tinted contact lenses are required outdoors amblyopia were interviewed through a questionnaire . and also inside . Most of the parents claim that the child is not against occlusion therapy, as well as they are confident that Methods: A case report of a 14 year old girl with occlusion of healthy eye can help improve the vision achromatopsia . of the amblyopic eye . However, most parents do not understand the meaning of organic amblyopia, but Results: Patient presents with nystagmus since birth . follow the recommendations of vision specialists more Low vision, pronounced photophobia and impaired color than parents of children with anisometropic or rerfactive vision detected later on . Uses toned glasses for vision amblyopia. correction daily , is willing to try contact lenses . Conclusion: Some parents, especially from the Visual acuity witout correction od 0,05 os 0,05 countryside, had poor understanding of amblyopia Refraction after cycloplegic drops: od -2,0 -3,75 ax 5 os in general, especially about organic amblyopia, +1,0 -3,0 ax 10 VA cc 0,1 thus resulting in late presentation and ineffective countermeasures . The key to prevent organic amblyopia Fou: Optic nerve discs pale, no other pathologies of and its psychosocial impacts is to provide health retina detected . education regarding amblyopia . Teamwork with Patient was first fitted standard soft contact lenses with optometrist, tiflopedagogues and ophthalmologists appropriate correction but prounounced photophobia gives better results in amblyopia treatment . persists . Special silicone hydrogel toric tinted contact lenses were ordered and fitted. Patient felt comfortable, no photophobia was observed indoors nor outdoors . Visual acuity slightly better compared to glasses . Girl is satisfied with the option to wear contacts rather than glasses. Conclusion: Despite the fact that achromatopsia is non-progressing disease it is associated with low visual function and lower quality of life . Thus far there is no cure for it , but the use of tinted contact lenses or glasses can significantly improve the vision and quality of life for these patients .

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Near vision screening in school age Overlooking - A sign not to be children missed

Aiga Svede, Gatis Ikaunieks, Evita Kassaliete, Gunta Kevin Falzon , Ianthe Abbey , Eamonn Sheridan Krumina York Hospital Department of Optometry and Vision Science, University of Latvia Introduction: We report on an 8 year old girl who presented with performance decline at school and Introduction: In Latvia, no official guidelines exist for behavioural difficulties before the onset of vision loss. vision screening in school age children . Only visual acuity Methods: Case report . at far distance (at least 3 m) is evaluated in some of the schools in Latvia . However, most of the learning problems Results: At presentation the fundus was normal . arises due to the near vision problems, especially due to 9 months later she was noted to have eccentric viewing inappropriate work of accommodation and vergence or “overlooking” . Fundus exam showed bilateral bull’s system . Neither child, nor parents, nor school teacher eye maculopathy . Optical coherence tomography see the link between lost words or letters, heavy eyes, showed an overall reduction in thickness of the central overall fatigue after near work and other complains retina, as well as the outer and the inner retinal layers . during reading as a sign of possible near vision problem . Full field electroretinography (ERG) and pattern ERG Therefore, children do not complain about vision if they responses were suggestive of severe cone and rod struggle with learning . If there are no complains, the system dysfunction affecting both central and peripheral parents see no point to visit the vision specialist . The aim regions. Blood films showed numerous lymphocytes with of our study was to evaluate the need for the near vision prominent cytoplasmic vacuoles . Electron microscopy screening in school age children . confirmed the presence of cytoplasmic, membrane bound vacuoles and occasional fragments of electron Methods: We developed screening model including tests dense, storage material with a fingerprint profile were for visual acuity at distance, hyperopia, accommodation, detected. DNA testing confirmed juvenile neuronal suppression and stereovision, heterophoria, near point ceroid lipofuscinosis (CLN3, Batten disease) . of convergence, vergence facility, and colour vision (87% sensitivity, 77% specificity). 10861 school age children Conclusion: Overlooking is often a feature of children (aged 7-18 years; girls – 51%; 30 schools) were examined with Batten disease and may guide the clinician to the between 2011 and 2013: 10648 children from standard correct diagnosis and further investigations. schools and 213 children from schools for children with learning difficulties. Results: Screening results in standard schools demonstrate that only 11 3%. of children had decreased visual acuity at far distance . We found that the largest group of children (30 .9%) failed near vision skill tests and could experience problems with near visual tasks . Children with learning difficulties had significantly more visual complaints, more positive results of hypreopia test, more esophoria cases, significantly slower accommodation response, a little bit slower vergence response, and more significantly reduced or lacking stereovision . Conclusion: Our results confirm wide range of near vision problems in school aged children . Therefore, we can conclude that the near vision screening would be a good tool for an early detection of near vision problems . Balancing of accommodation and vergence system functions should be the first steps in helping child to keep interest about learning and overcome some learning problems .

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Prevalence of Cerebrotendinous OFCD syndrome - phenotypic xanthomatosis in Juvenile Cataract variability and Triple X syndrome cases in Turkey; A Retrospective Natalia Arruti, Arundhati Dev-Borman, Magdalini and Prospective Observational Triantafylla, Lisa McAnena, Ian Christopher Lloyd Study – GEN-EYE I Great Ormond Street for Children NHS Foundation Trust

Huban Atilla 1, Turgay Coskun 2, Bulent Elibol 2, Serdar 3 3 Altinel , Belgin Ozdilsiz , GENEYE-1 Working Group Introduction: Oculo-facio-cardio-dental syndrome (OFCD) 1 Ankara University, Faculty of Medicine, Department of is a rare X-linked dominant disorder characterised by ocular, Ophthalmology craniofacial, cardiac and dental abnormalities in females with apparent embryonic lethality in males . The BCOR gene 2 Hacettepe University, Faculty of Medicine, Department of resides on the X chromosome and encodes a protein known Paediatr as the BCL6 corepressor . This protein plays a critical role in 3 TRPHARM Ilac San . A S. ., Clinical Trials Department, Istanbul, early embryonic development, including the formation of Turkey the eyes .

BCOR variants published to date are hypothesised to lead to Introduction: Cerebrotendinous xantomatosis (CTX) is a complete lack of this protein, resulting in the characteristic an autosomal recessive inherited disease . In CTX, sterol phenotype of OFCD syndrome. 27-hydroxylase enzyme activity is defective in the first step Methods: We report a Caucasian family with three affected of cholesterol side chain oxidation (1) . As a result of the family members in two successive generations (mother mutations in the CYP27A1 gene, cholestanol in the plasma and two daughters) diagnosed with OFCD syndrome who and tissues increased. The cause of symptoms and findings in carry the same BCOR variant in the heterozygous state . All CTX like bilateral juvenile cataracts (BJC), tendon xanthomas and central nervous system damages are as a result of the three individuals underwent complete ocular and systemic accumulation of deposits of cholesterol and cholestanol (a phenotyping and genetic analysis . derivative of cholesterol) in various tissues (1,2) . The prevalence Results:The younger daughter had bilateral congenital of CTX is estimated to be 1 / 50 000. in general population (3) . cataracts, more dense on the right, which was also a BJC has been reported in 88% of CTX cases (3) . Prevalence microphthalmic eye . There was no view of the right fundus . of CTX in BJC cases is unknown . Pre-screening of CTX can There was a posterior lens opacity in the left eye and a be done by Mignarri scoring test and by simply evaluating normal fundus . She underwent a right lensectomy with cholestanol levels (should be ≤ 3.75 mg/L) in the plasma of aphakia at 5 weeks of life, resulting in 0 .5 logMAR vision in suspected cases (4). The definitive diagnosis of the disease is made by showing the CYP27A1 gene mutation (5) . The disease the right eye by age 5 years . She is awaiting a left lensectomy . is usually diagnosed after the age of 30 years when usually Systemic examinations identified an atrial septal defect, central nervous system damage occurs (4) . Early diagnosis patent ductus arteriosus and delayed eruption of primary and early treatment before the development of neurological dentition with oligodontia. signs and symptoms were found to stop the progression of The mother was born with bilateral congenital the disease (6) . We aimed to evaluate prevalence of CTX in cataracts and underwent surgery at 7 months of age . juvenile cataract cases in ophthalmology clinics of Turkey for She was also identified to have significant dental the first time. abnormalities with long roots and thin enamel . Methods: In the retrospective part of this observational study, The older daughter was born with bilateral mild posterior we have screened patient databases and/or patient files in lens opacities, and only underwent a unilateral left the archives of ophthalmology clinics . In the prospective part, lensectomy at 5 years of age . She was also diagnosed we have invited these patients who had BJC operations to through amniocentesis with a triple X syndrome . the study centres . Patients who agreed to participate in the Genetic sequencing analysis identified the following variant study were enrolled to the study . All volunteers were answered in the heterozygous state: c .4600_4601dup p .(His1535fs), and Mignarri Scoring Test; and a blood sample was withdrawn for was confirmed in all three affected individuals. cholestanol testing at central laboratory . Volunteers who have cholestanol levels higher than 3 75. mg/L in the plasma were Conclusion: Although each affected individual in this family reviewed by Scientific Advisory Committee and referred to was identified with the same pathogenic variant, a range Paediatric Metabolism clinics for genetic confirmation testing. of phenotypic features were displayed . This may represent Results: A total of 197 volunteers (2-20 years) were enrolled variable expressivity . The oldest sibling had the mildest to the study between June 2018 and January 2019 . Thirteen phenotype with only ocular involvement . We hypothesise patients (n=13; 6 84%). out of 190 have cholestenol levels above that her triple X status provides a protective effect over the the threshold of 3 75. mg/L . Two BJC patients (n=2; 1538%) . pathogenic variant . out of 13 were diagnosed as CTX genetically confirmed). To our knowledge, this is the first case described with OFCD Other parameters of these cases (Mignarri scores etc .) will be analysed statistically . syndrome and BCOR mutation having a triple X syndrome .

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Pseudo-accommodation in twin Functional outcomes in operated brothers without amblyopia after unilateral congenital and infantile monocular infantile cataract cataract surgery- case report Daniela Eleonora Cioplean, Raluca Lacramioara Nitescu Raluca Nitescu, Daniela Cioplean Ophthalmology Clinic OFTAPRO, Bucharest, Romania Oftapro Ophthalmology Clinic

Introduction: The purpose of this presentation is to identify the mean factors which influence the functional Introduction: Case report of a 4 years old twin brothers results in unilateral congenital and infantile cataract with monocular infantile cataract and pseudo- surgery . accommodation after the surgery and implantation with monofocal IOL . Methods: A retrospective study of a 25 children group, born between 2010 and 2015 operated for unilateral Methods: The twin brothers were diagnosed at 3,5 years congenital cataract . We followed : the age at surgery, the old with monocular infantile cataract one on the right surgical used technique, associated ocular problems and eye and the other on the left eye. The BCVA for the first complications, bilateral refraction at age 3 years, visual brother was 0,1 and for the other was 0,2 . They were acuity at age 3 and 6 (when available), binocular vision referred for cataract surgery . The surgeon used BIL presence, strabismus and amblyopia treatment applied . technique and monofocal IOL . Pseudo-accommodation represents a near VA better than 0,5 with the distance Results: Only 17 of 25 patients had a complete follow-up correction and without addition . and are still under treatment . The cataract surgery was provided between age 2-54 months, mean age 15 5. month, Results: Two months after the surgery one child had 11 patients had surgery before age 12 months . 2 children 1 0. VA without distance correction and 0,7 VA at near have aphakia, 10 have posterior chamber intraocular without addition and the other 0,9cc(-1 .50/90) corrected lens, 5 have bag” in the lens”( BIL) implant . Associated distance VA and 0,6 VA at near without addition . ocular problems: 7 Primitive Vitreous Persistence Conclusion: The twin brothers maybe had a small, partial (PVP), 2 microcornea, 2 microphthalmia, 1 ROP case. cataract till the age of two, that do not caused amblyopia . In all 17 cases the amblyopia treatment started at less Pseudo-accommodation can explain their good near VA than one month after surgery and children received without addition after the surgery and implantation with optical correction . 5 children developed secondary a monofocal IOL. cataract and have been re-operated . 4 children still have significant opacities and myotic pupil, remaining with poor outcome and poor compliance at occlusion . 1 case developed glaucoma . High anisometropia larger than 3 diopters was present in 3 cases of 15 implanted children . 10 children had a visual acuity better than 0 .3 at age 3. 4 hildren have a degree of binocularity. 15 of 17 had initially strabismus over 20 PD, 4 have been surgically treated for strabismus, 2 cases got botulinum toxin . Conclusion: The most often causes of functional outcome failure in unilateral congenital and infantile cataract surgery are: diagnosis delay, surgery delay, associated ocular pathology, surgery complications, amblyopia treatment delay, poor follow-up and poor compliance .

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Cataract operation in children with Outcomes of Trabeculectomy chronic uveitis. Case series. Undertaken within the First Year

Špela Markelj, Branka Branka Stirn-Kranjc, Vladimir of Life for Reduction of Intraocular Pfeifer, Manca Tekavčič-Pompe Ocular Pressure in Primary University Eye Hospital Congenital Glaucoma

Eva Drucka 1, Kristine Baumane 2, Maris Viksnins 3, Antra 3 3 3 Purpose. To present children with chronic uveitis who Treija , Vita Sperga , Sandra Valeina had undergone cataract extraction at University Eye 1 Riga Stradins University, Riga, Latvia Hospital Ljubljana between 2010 and 2018 . 2 Riga East Clinical University Hospital,”Bikernieki” Methods. Retrospective noncomperative case series . Clinic,Latvia Results. 10 children (14 eyes) were operated . Median age 3 Children’s Clinical University Hospital, Riga, Latvia at diagnosis of uveitis was 6 .3 (range: 3 .5 – 10 .2), 4 children had visual significant cataract at the time of presentation. Juvenile idiopathic artitis (JIA) was diagnosed in Introduction: Primary congenital glaucoma (PCG) is a rare 6 children. In 4/6 children uveitis was initial presentation disease with estimated incidence around 1/27 800 live births of JIA . All children were treated with methotrexate and/ in Europe . The aim of the study was to analyze effectiveness or adalimumab . In addition, perioperative systemic and of trabeculectomy undertaken for management of PCG. postoperative topical corticosteroid were used . Methods: A retrospective case series study of 14 patients Median age at the time of cataract surgery in the first under age of 12 months with newly diagnosed PCG in the eye was 7 years (range: 4 8. – 11 .9), median postoperative single university hospital was conducted . The medical follow up was 3 3. (range: 2 2. – 6 .5) . In all eyes, posterior records of 14 eyes were reviewed and analyzed . All surgeries chamber intraocular lens was implanted, in 3 eyes were done by single surgeon. primary posterior capsulorrhexis was performed . Postoperatively 9 eyes (65%) developed posterior capsular Results: The study was composed of 14 eyes of 14 patients opacification (in 8 eyes YAG capsulotomy was performed with mean follow-up period of 74 0. months (range, 8 to and 1 eye needed surgery) . 3 eyes (21%) needed glaucoma 162) . Among the patients, 35 7%. were females and 64 3%. operation with drainage device implantation, macular were males . On the time of surgery, the mean patients’age edema developed in 2 eyes (15%) . At last follow up visit was 7.1±1.7 months. 8 eyes had visual acuity 1.0, 2 eyes 0.8 and 4 eyes between The mean preoperative IOP was 26.1±4.2 mm Hg. At the final 0 6. and 0 .3 . follow-up visit, the average IOP was 15.8±5.0 mm Hg with the mean IOP reduction of 39 .5% from the preoperative Conclusions. Cataract extraction in children with baseline. chronic uveitis can be complicated and is difficult for postoperative management . Appropriate preoperative At the last follow-up 35 7%. had visual acuity > 20/40, 57 1%. and postoperative immunosuppression is mandatory for from 20/200 till 20/40 but 7 1%. lower than 20/200 . No good postoperative outcome . loss of light perception was determined . Amblyopia was diagnosed in 42 .9% of patients, astigmatism in 857% . of eyes with mean value of -1.5±2.3 diopters.

Ten (71 4%). of 14 eyes were considered as successful at the last follow-up with effective surgical treatment . Two (14 .3%) eyes received additionally topical antiglaucoma eye drops with successful IOP control . However, two (14 3%). eyes had mean IOP over 21 mm Hg after applied surgical treatment and topical medication .

Conclusion: Trabeculectomy undertaken in the first year of life demonstrated successful outcomes with good IOP control in most of cases during long term follow-up .

At the last follow-up more than half of patients obtained visual acuity in range from 20/200 till 20/40 .

Further studies are necessary to provide more reliable data regarding to results of trabeculectomy in Latvian children’s population .

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Diplopia after Baerveldt glaucoma Cornea plana-rare disease. Case implant: A Case Report report

Maria Elisa Luís 1, Diogo Hipolito Fernandes 1, Sara Una Epnere 1, Sandra Valeina 1, Gita Taurina 2 Crisostomo 1, Manuel Noronha 1, Mariana Cardoso 2, Teresa 1 Children’s Clinical University Hospital Eye diseases clinic Gomes 3 Riga 1 Centro Hospitalar Universitário Lisboa Central 2 Medical Genetics and Prenatal Diagnostics Clinic 2 Hospital Vila Franca de Xira 3 Hospital das Forças Armadas Introduction: Cornea plana is rare, usually autosomal recessive anomaly with following clinical findings: widened corneoscleral limbal area with indistinct merge Introduction: Diplopia is a known complication of between sclera and cornea, round grey central corneal glaucoma surgery . The purpose of this report is to zone ~ 5mm in diameter, stroma is thicker in this area present a case of binocular diplopia after placement of and thin at the margin, radius of curvature of cornea is a Baerveldt glaucoma drainage device in a patient with larger than normal, apparent continuity of the sclera, secondary refractory glaucoma . high hypermetropia with astigmatism in most cases . Methods: Patient case report . Management consists of correction of refraction errors and ambliopa, early detection of glaucoma . Results: A 39-years-old female with a past ocular history of recurrent herpetic keratouveitis of her left eye (OS) Methods: A case report of toddler girl with cornea plana . and secondary glaucoma was submitted to a Baerveldt Results: Parents noticed unusual eye appearance when glaucoma drainage device implant placed in the upper patient was 6 months old. Girl was born at week 40, first temporal quadrant . After surgery patient complained of pregnancy for the mother, delivery assisted by vacuum binocular horizontal diplopia at all gaze positions except extraction . Birth weight 3300g, height 51 cm, overall for extreme dextroversion . One year later an Ahmed health status good . Both parents are healthy with no eye tube shunt was placed in the inferior nasal quadrant pathologies . Father has myopia of -1 0D. . OS . Diplopia persisted . Examination revealed a nasal Hirschberg corneal reflex 7º OS, impaired OS elevation Patient opens eyes freely, no fear of light, no nystagmus, and adduction with contralateral hyperactivity and an no strabismus . Observed wide limbal zone with intermitente 8Δ exotropia at near fixation. Hess screen blood vessels and central, symmetric, round, almost test revealed a restrictive strabismus . Body of the transparent, distinct shape opacities . Retinoscopy after Baerveldt implant was surgical removed and the tube cycloplegia: both eyes +8 0. . Fou- disks of the optic nerve was occluded . However diplopia persisted although visible, light, not pale, borders clear, no pathologies found slightly improved - there was apparent alignment on retina . Diameter of the cornea vert . 10-11mm, horiz . on primary position, an exophoria 4Δ for near and far 9-10mm . Prescribed glasses and referred to a geneticist . fixation and mild impairment in OS adduction. Patient Currently 3 y/o, patient is seen twice a year . No negative was submitted to lamellar keratoplasty (DSAEK) OS changes in the cornea . Visual acuity w/o correction and is currently waiting for OS cataract surgery . Best 0,4-0,6 od=os . Refraction after cycloplegic drops: corrected visual acuity is 2/10 OS . od +1,0+2,5 ax 80 os +0,75+3,5 ax 80. Corneal base curve od 10,2/9,4 mm os 9,6/8,7 mm. Appropriate vision Conclusion: Diplopia after placement of aqueous correction is prescribed . drainage devices is well described with rates of 5-34% . In the present case, risk factors have been identified for Conclusion: Cornea plana is rare anomaly that has to be post-surgical diplopia, namely implant size (Baerveldt differentiated from sclerocornea, microcornea, corneal 350 mm²) and its location in the upper temporal dystrophies . For appropriate diagnosis and dynamic quadrant, presence of multiple valves and mechanical observation refraction measurements, biomicroscopy, manipulation of ocular muscles . Given its frequency videokeratometry, pachymetry, OCT and US, tonometry patients should be investigated for the presence of and gonioskopy must be performed regularly. diplopia and strabismus before and after glaucoma surgery .

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Fuchs Superficial Marginal Peters Plus syndrome – big Keratitis Managed With Crescentic challenge in infants

Penetrating Lamellar Keratoplasty Agne Krucaite, Arvydas Gelzinis, Arunas Miliauskas, Reda Zemaitiene Doha Jbara, Uri Elbaz Hospital of Lithuanian University of Health Sciences Rabin medical center

Introduction: Peters Plus syndrome is a rare genetic Introduction: To report a case of bilateral peripheral condition characterized by ocular, auditory, facial, corneal thinning with an appearance of Fuchs superficial genitourinary system, cardiac abnormalities and marginal keratitis in the right eye and Terrien marginal developmental delay . Peters anomaly is the most degeneration in the left eye. common ocular dysgenesis causing corneal opacification Methods: Interventional case report at birth and severe amblyopia . Systemic malformations, young age and postoperative care contribute to the Results: A 16-year-old boy presented with bilateral difficulties in surgical treatment. corneal thinning . The patient experienced an episode of ocular redness and discomfort in the right eye that Methods: A case report was associated to the severe corneal thinning . Anterior Results: A 2-month-old female was reffered to our segment optical coherence tomography (AS-OCT) ophthalmology department due to nystagmus and demonstrated a severely thinned cornea with aqueous corneal opacities . She was born at 38 weeks‘gestation . pocket formation on the upper nasal quadrant . However, Her birth weight was 2100 grams. She is the first child in the left eye progressive lipid deposition at the leading in the family born after 6 miscarriages. Red reflex edge of corneal thinning was observed in the left eye, screening was not performed due to narrow palpebral consistent withTerrien marginal degeneration . fissure. Anterior segment examination under general Due to impending perforation in the right eye The anesthesia showed corneal opacity in the inferonasal decision was made immediately to perform crescentic quadrant with iridocorneal adhesion and corectopia penetrating lamellar keratoplasty . in the right eye. Diffuse corneal opacification with minimal view of the anterior segment was seen in the The patient had an unremarkable postoperative course, left eye . The intraocular pressure (IOP) was 22 4. mmHg with 6/7 .5 best-corrected visual acuity 12 months after in the right eye and 24 4. mmHg (Icare) in the left eye . keratoplasty Horizontal corneal diameter was 9 mm in both eyes . Conclusion: We herein report a case of Fuchs superficial Other malformed features found in the physical pediatric marginal keratitis and Terrien marginal degeneration examination included: micrognathia, narrow nostrils, may represent different clinical features of the same low position of the ears, brachydactyly, unilateral renal disease process . Cescentic penetrating lamellar agenesis, ureteral ectopia, atrial septal defect, moderate keratoplasty provides an excellent technique for treating hearing loss and severe developmental delay . Surgical severe corneal thinning in ecstatic conditions such as optical-sector iridectomies were performed in both eyes . Fuchs superficial marginal keratitis IOP was controlled with dorzolamide and timolol drops . Now the patient is 20-month-old . She is following the light and objects with her right eye, left eye is deviated inward . There is small residual horizontal nystagmus . Conclusion: Optical-sector iridectomy is an effective choice of treatment in infants with moderate Peter anomaly and multiple congenital abnormalities to avoid systemic use of glucocorticoids and immunosuppressants after corneal transplantation .

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Microophthalmia, anterior segment Aniridia: overview of patients dysgenesis and PFV secondary to a followed in São João Hospital heterozygous RARB variant Jorge Meira, Ana Maria Cunha, Augusto Magalhães, Jorge Breda, Fernando Falcão-Reis Arundhati Dev Borman, Ian Christopher Lloyd Departament de Ophtalmology, São João Hospital Great Ormond Street Hospital for Children NHS Center Foundation Trust UK

Introduction: Aniridia is a panocular eye disorder Case report: A 2-week-old female was referred to the characterized by bilateral iris hypopolasia, which paediatric cataract service with bilateral microophthalmia, varies widely from minimal loss of iris tissue to almost iris colobomata, dense persistent foetal vasculature complete absence of the iris . It is also characterized by and bilateral posterior lenticular plaques precluding a foveal hypoplasia, resulting in reduced visual acuity retinal view in the right eye . Uncomplicated left, then and nystagmus . Other ocular malformations are right, lensectomies with aphakia were performed at common in aniridia such as cataract, glaucoma, and age 6-weeks . The right posterior segment had a thick keratopathy . About two-thirds of cases are familiar with bifid dysplastic retinal fold incorporating the optic disc, dominant inheritance; the remainders are sporadic . no identifiable macula and retinal mottling. The left Nonocular associations include Will’s Tumor, WAGR fundus appeared granular with a healthy optic disc . An (renal abnormalities including Wilms’ tumor with other ERG at age 11-months showed significant right retinal genitourinary anomalies and mental retardation), dysfunction and mixed rod/cone retinal function in the WAGRO (WAGR plus obesity), and Gillespie syndrome . left eye . VEPs from the right eye showed severe macular The site of mutation, PAX6, a transcription factor with and marked generalised visual pathway dysfunction multiple roles in the development of the eye and other suggesting worse than rudimentary vision; from the left tissues, was identified in the early 1990s. eye they suggested poor vision . This study aims to retrospectively study patients with This was the first child of non-consanguineous aniridia followed in the Hospital Center of São João . parents, born at full term. Neonatal MRI identified no intracranial abnormalities . She had anal atresia Methods: We conducted a retrospective review of and mild gross motor developmental delay but no patients with aniridia treated at São João Hospital . Based cardiac, neurologic, cognitive or other structural on the existing clinical process, we collected patient data anomalies . There was no family history of ocular disease . regarding visual acuity, presence of ocular or systemic Next generation sequencing across congenital cataract, malformations, and related relevant information . glaucoma and anterior segment dysgenesis panels Statistical evaluation was performed using the SPSS identified no pathogenic variants. Exome sequencing statistical software . identified a previously unreported, likely pathogenic, de novo heterozygous missense variant in the retinoic acid Results: Five patients (10 eyes) were studied . In all receptor ß (RARB) gene . patients, ocular manifestations were similar in both eyes . Mean age was 23 .6 years . Three patients (60%) have Discussion: Mutations in RARB cause microophthalmia visual acuity less than 1/10, 2 (40%) visual acuity of 1/10 . syndrome 12 . Retinoic acid regulates early eye Nystagmus and cataract were presente in all patients . development and RARB is involved in periocular Hypoplasia of the fovea was present in 4 (80%) of the mesenchyme remodelling, facilitating anterior segment patients . In one patient, the presence of foveal hypoplasia and retinal development . Murine rarb mutations cause was uncertain . Corneal changes were present in 40% of congenital ocular anomalies and other malformations . patients . 3 (60%) presented glaucoma, 5 (100%) PAX6 Few human reports exist of the phenotype associated mutations described . Lens dislocation was present in 1 with RARB variants, which may be inherited in an (20%) patient . Only 1 (20%) had extraocular disease . autosomal recessive or dominant manner . Reported gain-of-function variants describe a severe phenotype Conclusion: Aniridia is a panocular disorder . The of bilateral microophthalmia, sclerocornea, iris correlation between aniridia and nystagmus, cataract, coloboma, cardiac defects, developmental and cognitive glaucoma, and keratopathy is high . Foveal hypoplasia dysfunction, progressive spasticity and structural is often considered inherent to aniridia . Although in our abnormalities involving the bowel, anus, diaphragm and patients the cause of low visual acuity is multifactorial, brainstem . A recent report details similar ocular features cases in which absence of iris is the only described to the present subject . To date, our patient has displayed alteration, the hypovision verified in these patients is a less severe phenotype; this may represent variable probably due to some degree of foveal hypoplasia . In the expressivity or that the child is too young to display majority of cases, vision is significantly reduced or lost in more severe features . This study widens the phenotype adulthood . Management of the associated pathologies associated with variants in RARB . is the focus of treatment .

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Ocular Manifestations of Sialidosis: A case report

Mucopolysaccharidose VI – A case- Ana Morales Becerra, Julia Escudero Gomez, María Isabel report Pérez Cabeza, Fátima Borrás Larrubia, Guillermo Luque Aranda Jorge Meira, Augusto Magalhães, Ana Maria Cunha, Raúl Jorge Moreira, Elisa Leão, Jorge Breda Hospital Regional Universitario Carlos Haya São João Hospital Center Introduction: Sialidosis, is an autosomal recessive disease caused by deficiency of the enzyme neuraminidase, is Introduction: Mucopolysaccharidoses (MPSs) are characterized by the progressive lysosomal accumulation a group of disorders caused by inherited defects in of sialylated glycopeptides and oligosaccharides (OMIM lysosomal enzymes resulting in widespread intra- and # 256550) . Has been divided into two subtypes sialidosis extra-cellular accumulation of glycosaminoglycans . type I (normomorphic or mild form) and sialidosis type II Mucopolysaccharidosis type VI (MPS VI), is an autosomal (dysmorphic or severe form). recessive disease, that results from a deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase, which is Case report: A 20-month-old girl of Moroccan origin, involved in the degradation of the glycosaminoglycans the third child of healthy, nonconsanguineous parents, dermatan sulfate and chondroitin 4-sulfate . This born at 29 weeks’ gestation and weighing 1900 g . She leads to the accumulation of partially degraded developed ROP 2 that resolved without treatment . At glycosaminoglycans in tissues and organs . Ocular 4 months of age, mild bilateral capsular/subcapsular manifestations include corneal clouding, glaucoma, diffuse lens opacity and high hyperopia were observed retinopathy and optic atrophy, and in some cases on ophthalmological examination . She seemed to have hyperopia . developed slightly coarse facial features . At 9 months of age, she had bilateral cherry-red spots in the macula . Methods: A case of a 24 years-old patient with MPS VI is reported . The ophthalmological clinical process was It was suspected Oligosaccharidosis, and this possible reviewed, from 2010 to 2018 . A brief review of articles diagnosis was supported by elevated urinary sialylated published, using the Pubmed database, was performed . oligosaccharide levels . The segregation analysis was performed by sequencing the parents’ DNA . These Results: A 16-year-old girl with MPS VI diagnosis is results confirmed the diagnosis of sialidosis, a rare followed at the pediatric ophthalmology clinic . It presents metabolic lysosomal storage disease (OMIM #256550) in an initial consultation a best corrected visual acuity (BCVA) of 4/10, with astigmatism of -2 .25x180 . The anterior Conclusion: Sialidosis type II is a rare, autosomal segment reveals opacified (more evident in the left eye), recessive inherited disorder . The characteristic macular and thickened corneas (741 and 779 um); intraocular change found in this metabolic disorder, leading to the pressure was of 34 and 32 mmHg in the right and left eye, definition of ‘cherry-red spot’, may lead to late visual respectively . Given the corneal opacities, the ocular fundus failure resulting from ganglionic degeneration . An early evaluation was dificult. The corneal opacity evolved, and diagnosis is very important, this is why it is necessary to at 2 years of follow-up BCVA was 3/10 in RE and 1/10 in perform a complete examination of every patient as well LE . It was thus proposed for penetrating keratoplasty of to perform an adequate miltidisciplinary follow up . LE, followed by transplantation of the RE . Retinographies REFERENCES: Pérez-Cabeza MI et al . Infantile and OCT-SD were performed after surgery, suggesting sialidosis: natural history in a preterm infant with two the presence of glycosaminoglycans at choroidal level new pathogenic mutations and new ocular findings. with atrophy of retinal pigment epithelium . The patient J AAPOS . 2018 Nov 13 . pii: S1091-8531(18)30565-2 . doi: progressed favorably, with stable retinopathy (at 8 year follow-up) with both corneas transparent; BCVA is 4/10 . 10 1016/j. .jaapos .2018 08. 008. Conclusion: Usual MPS VI ocular manifestations include Khan A, Sergi C . Sialidosis: A Review of Morphology and thickened corneal clouding, glaucoma with optic nerve Molecular Biology of a Rare Pediatric Disorder. Diagnostics atrophy and hyperopia . In our patient, the most obvious (Basel) . 2018;8(2):29 . change and the target of greater treatment was corneal Franceschetti S1, Canafoglia L1 . Sialidoses . Epileptic opacification. The presence of retinopathy was also Disord . 2016;18(S2):89-93 . observed, although usually it is more frequently found in other types of MPS . However, with the advent of new Wang IH, Lin TYm Kao ST . Optical coherence tomography diagnostic technologies, namely the OCT, this paradigm features in a case of type I sialidosis . Taiwan J Ophthalmol may change . Despite being particularly challenging 2017; 7:108-11 patients, efforts should be directed to maximize the visual acuity of these patients, allowing them to have the best quality of life possible .

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Bilateral vitreous hemorrhage Ocular manifestations of cystinosis in a neonate with galactosemia: in two siblings a rare complication with severe Evangelia Koulali 1, Zoi Tegou 1, Polychseni Basiloglou 1, implications S Zagkanika 2, Konstantinos Kollios 2, Emmanouel Roelides 2 Stefaan Van Nuffel 1, Eva De Vilder 1, Patrick Verloo 1, Fanny 1 Nerinckx 1, Patricia Delbeke 2 Department of Ophthalmology, Hippokrateion General Hospital of Thessaloniki 1 Ghent University Hospital, Ghent, Belgium 2 3rd Pediatric Clinic, Aristotle University of Thessaloniki 2 AZ Sint-Jan, Bruges, Belgium

Introduction: To present a rare case of bilateral deposition Introduction: To describe ocular manifestations in a of cystine crystals in the corneas of two brothers, due to patient with galactosemia . Cataract is the main ocular renal disease, with subsequent photophobia and visual complication of the disease, occurring in 30% of patients, impairment. and may resolve spontaneously upon dietary treatment . Anecdotal reports have mentioned vitreous hemorrhage Methods: Two brothers, 1 and 7 years old, visited (VH) as a complication in some patients. our outpatient department in order to undergo ophthalmological evaluation after they had been Methods: case report with peroperative video genetically diagnosed for Cystinosis, an autosomal recessive renal syndrome . Depart from the renal Results: We describe a male neonate who presented symptoms, the boys presented with growth retardation with acute liver failure at day 10, characterized by failure and fair skin and hair . The family history was clear and to thrive, jaundice, coagulopathy and encephalopathy . both pregnancies were uneventful . Clinical examination Blood spot testing showed absence of GALT activity, revealed normal visual acuity for one boy and mild visual confirming the diagnosis of galactosemia. At 20 days impairment for the other . Both siblings appeared with of age, a bilateral cataract and floaters in the vitreous good ocular motility, mild photophobia and bilateral were noted . The cataract resolved under a galactose- presence of highly reflective crystals in all layers of the free diet, but at 2 .5 months of age VH were seen in both corneas. Fundoscopy revealed no significant findings. eyes . Vitrectomy and peripheral laser photocoagulation Both children initiated topical treatment with cysteamine was performed in the left eye, and a month later in the eye drops, in addition to oral therapy . right eye, with phacophagia of the left eye . Peroperative fundoscopy showed ischemia of the peripheral retina Results: Clinical features remain stable 5 years later, as with telangiectatic vessels and crystalline depositions . well as the boys’ visual acuity . Cystine crystals are still There was no recurrence of the VH during postoperative present, but with no change or progression of their follow-up . accumulation A review of the literature confirmed – although seemingly Conclusion: Topical cysteamine treatment, in rare – VH to be a complication of galactosemia . VH may collaboration to the oral treatment, can significantly be due to the coagulopathy and brittle vessels, noted halt the progression and accumulation of crystals in during vitrectomy . In this patient we also noticed retinal the eye. Efficient treatment adherence is crucial in ischemia, capillary occlusions and depositions, which order to limit their presence in the cornea and decrease may cause new vessel growth and consecutively VH . If the occurrence of further extent of the disease, most left untreated, VH in children may lead to amblyopia and importantly retinopathy . visual impairment . Conclusion: This case emphasizes the need to be aware of VH in all galactosemia patients and for ophthalmological follow up .

122 Poster Abstracts

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Challenges in patients with Ophthalmic Manifestations of a 14 Down syndrome – a call for EPOS year-old Male with Kniest Dysplasia recommendations? Stephanie Celucia Jennifer Robinson 1, Manca Tekavčič 2, Christina Gerth- Jose R . Reyes Memorial Medical Center Kahlert 1 1 Department of Ophthalmology, University Hospital Zurich Introduction: Kniest dysplasia is a rare type of bone dysplasia which presents with clinical and characteristic 2 University Eye Clinic, Ljubljana, Slovenia radiographic findings, facial abnormalities and ophthalmic changes . It is very important to characterize these patients early for identification of complications Introduction: Paediatric ophthalmologist care for patients and management . with Down syndrome (Trisomy 21) in one way or another . Do we have underlying guidelines or recommendations for this Case Presentation: A 14 year-old male patient known patient group to ensure best possible treatment and early with bone dysplasia since childhood presented with a recognition of ocular pathologies? The aim of this paper is 2-year history of gradual progressive blurring of vision to review the current knowledge of common ophthalmic accompanied by occasional eye redness on the left anomalies to propose an update of current recommendations eye and a 2-day history of sudden blurring of vision through the European paediatric ophthalmology society on the right eye described as curtain-like obstruction (EPOS) . accompanied by photopsias . Patient was born term via Methods: caesarian section secondary to breech presentation . For the past 6 years, he was maintained on inhaled 1. Pubmed search: publications between 1980 and 2019, corticosteroids for asthma . On eye examination, patient’s keywords: children/ ophthalmic/ Down syndrome were visual acuity was 20/200 improved to 20/100 with pinhole analysed for frequency of ocular abnormalities in Down on the right eye and no light perception on the left eye . syndrome Dilated fundoscopy of the right eye revealed complete 2. European survey regarding the approach when taking posterior vitreous detachment, total retinal detachment care of eye conditions in children with trisomy 21 was with a break on the superotemporal area, and lattice sent to members of the Swiss Society of Ophthalmology degeneration with vitreous traction on the inferior (SOG), of the Slovenian Ophthalmological Society (ZOS) with questionable break . Left eye showed absence and of the European paediatric ophthalmology society of red-orange reflex. B-scan ultrasound was done on (EPOS) the left eye which showed a cataractous lens, retinal 3. Retrospective chart review of patients with trisomy detachment and thickened choroid Patient. was advised 21 treated at the Department of ophthalmology at the pars plana vitrectomy with tamponade for the right eye . University Hospital in Zurich (underway) There was no management advised on the left eye since a beginning phthisis bulbi was considered . Results: Altogether 249 papers were reviewed: refractive errors (up to 72% %) and strabismus (27-57%) were the most Patient was referred to Orthopedics for evaluation and common ocular abnormalities identified, whereas congenital management of bone dysplasia .He was advised Elisarov cataracts were found in up to 13% of the study cohort . repair of both knees first then total hip replacement. 147 participants completed the survey of which 73 3%. Patient was also referred to Pediatrics for evaluation and were board certified ophthalmologists with over 10 years clearance prior to the said ophthalmic operation . Patient of practical experience working in private practice (49 6%). was also seen by Anesthesiology for evaluation since without a particular subspecialty . 37 4%. were specialized in there was a previous literature by Hasegawa-Moriyama paediatric ophthalmology . The vast majority of questioned et al in 2018 about an unsuccessful tracheal intubation in ophthalmologists (78 43%). see 1-2 patients with Down a patient with Kniest dysplasia . syndrome per month . The greatest challenges in taking care of patients with Down syndrome appeared to be difficulties Conclusion: This is the first case of bone dysplasia to examine due to a reduced capacity to cooperate . The with ophthalmic findings seen in our institution.Kniest second most frequent difficulty was precise refraction due to dysplasia is highly considered in this patient who a lack of cooperation and ability to express themselves . 61 7%. presented with midfacial hypoplasia, small stature, of respondents have prescribed glasses with an addition for kyphoscoliosis, barrel-shaped chest, enlarged joints with near to their patients with Down syndrome . decreased motion, cataract and retinal detachment . Conclusion: Care and treatment of children with Down However, DNA examination is still necessary for the syndrome are a great challenge for the responsible diagnosis . In dealing with this type of patient, a multi- paediatric ophthalmologist . Therefore, we would like to systemic approach is deemed important and problem- discuss recommendations at the meeting which could be based management is the key . implemented by the EPOS committee.

123 Poster Abstracts

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KIF11 Related Chorioretinopathy in A Unique Case of Internal Limiting Two Siblings Membrane Wrinkling and Central

Miriam Ehrenberg, Gad Dotan, Ronit Friling, Naama Serous Chorioretinopathy in a Child Orenstein Lucia Derriman, Abbas Toufeeq Schneider Children’s Medical Center Royal Berkshire NHS Foundation Trust

Introduction: When we examine children with Introduction: Central Serous Chorioretinopathy (CSCR) subnormal visual acuity and bilateral pathological whilst commonly reported in adults, is rarely seen in children . retinal findings the possible presence of an inherited eye We report an unusual presentation of CSCR in a child . disease should not be ignored . Methods: A ten year old boy presented to Paediatric Herein we present a case of two siblings, with decreased Ophthalmology Clinic, complaining of sudden loss of vision best corrected visual acuity and unusual retinal findings. in his Right eye . He had no past ocular or medical history and These abnormal retinal findings, manifested in brother took no medications . At the time of presentation, the boy and sister, were the incentive to further pursuing an was low in mood and under psychological stress, grieving for extended ophthalmic evaluation and genetic testing, the loss of a family member . His parents explained that he resulting in revealing a rare genetic syndrome . had been crying and rubbing his eyes frequently over the Methods: Two siblings, ages 11 (male) and 7 (female) previous few weeks before presentation. were referred to the pediatric ophthalmology clinic due On exam, Snellen visual acuity was 6/15 Right and 6/9 Left . to strabismus. Both eyes were slightly hyperaemic with fine papillae They underwent a full eye exam, including strabismus evident; the rest of the anterior segment exam was normal . Fundoscopy however revealed an abnormal appearance of evaluation, anterior and posterior segment exam, and the maculae with vertically orientated linear wrinkling of cycloplegic refraction . They also had fundus photos, OCT the retinal surface, more pronounced in the right eye . It was imaging and electroretinography . decided to investigate further . After completing their eye evaluation, they were referred Results: The child had an OCT, which showed wrinkling to a genetic clinic . Whole exome sequencing (WES) was of the Internal Limiting Membrane (ILM) in both eyes . In sent for the patients and their parents . addition, Right OCT revealed a localised area of serous Results: Ophthalmic exam of both siblings revealed neurosensory retinal detachment with macular folds . Central moderate hyperopia, esotropia, amblyopia and extended retinal thickness was increased to 391 µ in this eye compared peripheral chorioretinal scars in both eyes . Macular OCT to 250 µ in the left eye. There was no associated increased demonstrated perifoveal changes . Reduced response of thickness of choroid in either eye. both cones and rods were found by ERG . Conservative treatment, with twice daily topical Clinical evaluation in the genetic clinic was positive for antihistamine only was decided and follow up planned for a finding of small head circumference (microcephaly). 3 weeks . WES demonstrated a heterozygous mutation At follow up, Snellen vision had improved to 6/7 .5 Right and [c 1703. ‑1G>A (NM_004523 3)]. in the KIF11 gene, which led 6/6 Left . Slit lamp fundoscopy was stable for both anterior to the diagnosis of an autosomal dominant KIF11- related segments and the macular changes appeared clinically disease . improved bilaterally . Repeat OCT revealed complete Conclusion: Genetic workup ought to be considered resolution of CSCR, with smooth ILM and a central retinal in appropriate cases as it improves the accuracy of thickness of 207 µ . diagnosis, improves treatment and prognostic follow The child was discharged from further follow up and has not up. Identification of a pathogenic mutation in a family experienced recurrence of CSCR subsequently . enables proper genetic counseling for the family and aids in eliminating recurrence of the disease in additional Conclusion: Unilateral painless reduction of vision in family members . children is rare in clinical practice and CSCR has been seldom reported . We believe that in this case, the pathology was precipitated by the huge stress and mechanical aggravation of frequent eye rubbing during the child’s mourning period, which resolved spontaneously over time . To our knowledge, there is not in the literature a case of CSCR in association with ILM wrinkling reported in adults or in the paediatric age group with such rapid resolution and it highlights that extreme stress can seriously impact the retina .

124 Poster Abstracts

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Bilateral uveitis after BCG Tubulointerstitial nephritis and vaccination with generlized BCG uveitis syndrome in children: report infection of three cases

Katrin Eerme Filipa Teixeira, Inês Leal East-Tallinn Central Hospital Eye Clinic Ophthalmology Department, Hospital Santa Maria, Lisbon, Portugal

Introduction: Primary immunodeficiency diseases (PIDs) are a group of inherited disorders, characterized by defects Introduction: Tubulointerstitial nephritis and uveitis of the immune system predisposing individuals to variety (TINU) syndrome is a rare condition characterized by of manifestations, including recurrent infections and ocular and renal inflammation in the absence of other unusual vaccine complications . Occurrence of severe BCG systemic disease . complications in a patient is strongly suggestive of an underlying immunodeficiency, primary or secondary. Methods: To describe three cases of children diagnosed Ocular complications following the BCG vaccine are rare, but with TINU . acute ocular inflammatory or hypersensitivity reactions within Results: Three female patients with mean age at onset the eye, along with a concurrent systemic inflammatory 14 0±3. 5. years . Past medical history was unremarkable response, have been reported (Lamm et al 1986; Price in all patients . General symptoms were present in 1994; Missioux et al 1995; Chevrel et al 1999; Clavel et al 1999; Wertheim and Astbury 2002) . In general, the uveitis is bilateral one patient including asthenia, anorexia, polyuria and and anterior, but may also be a panuveitis (Hegde et al 2005) . nocturia. The renal findings were in all patient’s hematuria, non-nephrotic proteinuria, glycosuria, leucocituria Methods: A case report of a child presented after BCG and decreased glomerular filtration rate (GFR). Urinary vaccination with generlized BCG, CMV infections and bilateral excretion of ß2- microglobulin was elevated in two uveitis . patients . Renal biopsy was conducted in two patients Results: 2,5 month old baby presented with fever, skin rash with diffuse interstitial mononuclear cell infiltrate in one and largment of the axial lymph nodes . Biopsy from the patient and lymphoplasmacytic interstitial infiltrate in lymph nodes was positive for Mycobacteria . CMV in blood and the other patient. Immunofluorescence was negative also positive in likvor and skin biopsy . Diagnosis: BCG and CMV in both cases . Ocular injection and pain were reported infection . Initial TB treatment was started: Rifampicini 15 mg/ in three patients . Ocular involvement included bilateral kg/die , Moxifloxacini 10 mg/kg/die, Isoniazidi 10 mg/kg/die, anterior uveitis in three cases and intermediate uveitis Ethambutoli 15 mg/kg/die . in two of these . The patients underwent treatment Positiv family history of TBC infections (grandmother)and with mydriatics, topical corticosteroids, and oral BCG lymphadenitis (mother) were reasons to look for primary corticosteroids for ocular involvement . The three immundeficiency. patients were started on oral methotrexate (MTX) due Genetic testing results: 6 chromosome 137522057-137522060_ to persistent uveitis . All patients are now on remission, delATTA; exon6:c 819_822del:p. .I273fs) heterocygotic mutation asymptomatic with quiescent renal or eye involvement . IFNGR1 geen (OMIM:107470) Conclusion: The TINU syndrome is a rare condition with IFNGR 1 AD partial deficiency was diagnosed. few published cases . Children with uveitis and renal involvement, should be screened for TINU to accurately At the age 5 month was diagnosed bilateral anterior uveitis diagnose and treat this condition in a timely manner . with sever amount of posterior synechias . The PCR analysis from anterior chamber fluid for TB was negativ. The vitreous In our group of patient’s methotrexate was essential to and fundus examination were without patohology . Uveitis achieve disease control and remission of uveitis. was treated for 6 month with subconjunctival Dexamethazon and Phenylephrine injections and topical Dexamethazon and Tropicamid eye drops . During 3 years of follow up the several VEP measurments were performed due to potentiali ocular toxicity of TB therapy . At the age of 1,5 years an exotropia inttermittens was diagnosed. At the age of 3 years the child has normal visual acuity (Lea Hyvaris charts RE 0,63 LE 0,63) and IOP, few posterior synechias and remainig thin fibrin fibers in the pupil of both eyes. The VEP results have been without pathology. Conclusions: Our case demonstrated the clinical features of an uveitis in primary immundeficiency patient with BCG infection after vaccination .

125 Poster Abstracts

P59 P60

Idiopatic choroidal Bilateral progressive neovascularization in children equatorial linear streaks and

Tatjana Kisil, Jūratė Balčiūnienė, Reda Žemaitienė, Arvydas unilateral subfoveal choroidal Gelžinis neovascularization in a 5-year-old Hospital of Lithuanian University of Health Sciences Kauno boy with multifocal choroiditis with Klinik panuveitis

Perrine Gillard 1, Ana Clement 1, Aude Affortit 1, Sabine Introduction: Choroidal neovascularization (CNV) involves Derrien 1, Isabelle Melki 2, Pascal Dureau 1 the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the 1 Fondation Ophtalmologique Adolphe de Rothschild sub–retinal pigment epithelium or subretinal space . In young patients CNV may arise in association with angioid 2 Hôpital Robert Debré streaks, inflammations, macular dystrophy and other disorders. In some cases, no specific cause can be identified, and these cases are known as idiopathic CNV . Idiopathic Introduction: Multifocal choroiditis with panuveitis (MCP) CNV is a disorder that primarily affecting patients younger is one of the most common white dot syndromes but rarely than 50 years and it is a major cause of visual loss. occurs in children . Retinal investigation should be done with multimodal imaging . Paediatrics evaluation must exclude Methods: Case series other conditions, like presumed ocular histoplasmosis Results: syndrome (POHS), West Nile virus, sarcoidosis, Vogt-Koyanagi- Harada syndrome, syphilis and tuberculosis . Spontaneous 1st case . regression may occur . Treatments depends on severity and 8 years old boy complained of blurry vision of the right eye activity of the disease and relies on the use of corticoids with for about 2 months . His best corrected visual acuity (BCVA) other immunosuppressive agents . (Snellen chart) in the right eye was 0 .06 and 1 .0 in the left eye . Methods: To report a case of a 5-year-old boy with MCP who Patient had a prominent gray-brown lesion of right macula developed subfoveal choroidal neovascularization (CNV) in at funduscopy. Full blood tests to rule out inflammatory the right eye and progressive equatorial retinal linear streaks pathology were done in other hospital and were normal . in both eyes. Macular OCT showed area of hiperreflection. In OCT Results: We describe a case of a 5-year-old boy with an angiography: small hyperreflective lesion in deep and outer important decrease of visual acuity in both eyes at presentation . retina and choriocapillaris layers . The idiopatic CNV was Ophthalmologic investigations found bilateral multiple small diagnosed . Treatment with intravitreal vascular endothelial yellowish-white equatorial chorioretinal lesions, cystoid growth factors inhibitors (anti-VEGF) was started . In 1 month macular edema (CME) and papilledema . There was no vasculitis after Bevacizumab intravitreal injection CNV reduced, BCVA neither anterior uveitis . ERG showed reduced cone responses . increased up to 0 3. . The patient is still observed . There is no Lumbar puncture revealed an idiopathic lymphocytic progression . meningitis. Pulmonary exploration identified two pulmonary 2nd case nodules on computed tomography and an elevated CD4/CD8 ratios in bronchoalveolar lavage fluid. Salivary gland biopsy 15 years old teenager complained of sudden black spot was normal . Other laboratory tests and paediatric evaluation in right eye vision field. His BCVA of the right eye was 0.2 were negative . CME resolved spontaneously beyond one and 1 0. of the left eye . Macular edema, pigmented area week . Acute granulomatous anterior uveitis developed one with intense haemorrhage were noticed during fundus months and two weeks after the onset of the disease . MCP examination in the right eye . Blood tests to rule out any was diagnosed after exclusion of the other conditions . Topical inflammatory or coagulation pathology were normal. Right corticosteroids were started and helped to achieve remission eye macular OCT: irregular retinal pigment epithelium of the MCP . No systemic treatment has been given and a close and hyperreflection under the macula and hyporeflective follow-up was made . Inactive lesions appeared as pigmented area under the neurosensory retina . OCT-angiography: a areas of chorioretinal atrophy . After one year, we could notice small hyperreflective lesion in deep and outer retina and coalescence of peripheral chorioretinal lesion resulting in choriocapillaris layers . Fluorescein angiography (FA): small linear streaks . Recently, subfoveal neovascular lesion was early hyperfluorescence with intense progressive leakage. noted on OCT in the right eye . Because of progression of OCT and FA allowed to suspect CNV . The idiopatic CNV was linear streaks and appearance of CNV, it has been decided to diagnosed . It was decided to start treatment with intravitreal start immunomodulatory therapy . Intravitreal anti-VEGF was anti-VEGF Bevacizumab . During treatment it was used 3 performed in the right eye. intravitreal injections . His right eye BCVA increased till 0 .9 . Conclusion: Children with MCP should benefit of a close There was no progression, subretinal hyporeflective area has follow-up including multimodal ophthalmic imaging . To avoid gone on OCT. development of CNV and other visual threatening, treatment Conclusion: Early anti-VEGF treatment can stop idiopathic should be started as soon as an activity is detected like the CNV progression and improve better results . enlargement of chorioretinal lesions .

126 Poster Abstracts

P61 P62

Pendular nystagmus in infancy Unusual Stationary Night Blindness may reveal an Early onset Severe with fundus changes

Retinal Dystrophy Vasily M . SMIRNOV 1, Christina ZEITZ 2, Claire-Marie DHAENENS 1, Isabelle AUDO 2, Sabine DEFOORT- Edouard Malandain, Matthieu Robert DHELLEMMES 1 Hôpital Necker-Enfants malades, AP-HP, Paris, France 1 CHR de Lille, F-59000, Lille, France 2 INSERM U968, CNRS UMR 7, Institut de la Vision, Paris Introduction: Nystagmus in infancy are often divided between two main entities: Infantile nystagmus syndrome (INS) and Fusion maldevelopment nystagmus Introduction: CABP4-related retinal dysfunction is a syndrome (FMNS) . A third class of nystagmus, however, widespread cone-rod synaptic transmission disorder purely pendular, is commonly encountered in infants . with electronegative electroretinogram (ERG) waveform . Since 1897, pendular nystagmus in infancy are often We report here clinical, electrophysiological and assimilated to Raudnitz’s triad description of “Spasmus multimodal fundus imagining data of 2 unrelated nutans” and often considered as a benign entity . patients harbouring CABP4 mutations . However, several authors reported cases of “spasmus nutans-type nystagmus” (designating a pendular, often Methods: 2 children were assessed in the setting of dissociated, often multidirectional, of low amplitude and infantile nystagmus and a very poor visual behaviour . high-frequency nystagmus) with chiasmal gliomas or Complete ocular examination, full-field ERG and retinal diseases . Here, we report one case of pendular multimodal fundus imagining (SD-OCT, colour, infrared nystagmus in infancy that led us to the diagnose of early reflectance and short wavelength autofluorescence onset severe retinal dystrophy (EOSRD) . photographs) were performed . Case report: A 6-month-old girl was referred to colleagues Results: ERG had a negative waveform, even for light- of us for a nystagmus . She was born at term from non- adapted stimuli, thus supporting the diagnosis of related parents and had no family history . She had photoreceptor-bipolar transmission disorder . Unusual normal visual function for her age and no photophobia . foveal changes were seen both at the OCT and fundus Eye movement examination revealed subtle pendular imaging . Genetical investigations discovered previously nystagmus, intermittent, of high-frequency and low unreported biallelic missense mutations in CABP4. amplitude, with no strabismus nor head turn but with Discussion: Initial presentation was quite confounding an intermittent head nodding . Brain MRI showed no with Leber congenital amaurosis . It was a negative abnormalities . ERG waveform which permitted us to orient genetic Despite clinical disappearance of the nystagmus from investigations and thus to establish a correct diagnosis . age two, which led our colleagues to the diagnosis of an To our best knowledge, peculiar fundus changes idiopathic form of pendular nystagmus in infancy, she observed in our patients were never reported before. presented again at age 4 for vision difficulties at school Conclusion: We described peculiar macular changes and photophobia . No nystagmus was found on clinical in two unrelated French patients with CABP4-related examination, but repeated eye-movement recordings retinal disease. over a long period of time could find very intermittently a nystagmus with strictly pendular waveforms . Multimodal imaging and full field ERG confirmed the diagnosis of rod-cone dystrophy . Discussion: Pendular nystagmus in infancy may be the only symptom revealing an EOSRD . Despite their clinical disappearance with time, pendular nystagmus remain present very intermittently on eye-movement recordings in most cases . Contrary to the traditional teaching, they often are not a self-limited condition . A complete check- up should be performed and completed even when the nystagmus «disappears» clinically . Electroretinogram remains crucial in all forms of pendular nystagmus in infancy with normal MRI .

127 Poster Abstracts

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Coats-like disease with brain The use of anti-VEGF for Coats calcifications and vascular disease treatment: review of abnormalities in both eyes in a 5 paediatric cases

5 years old boy Arvydas Gelzinis 1, Dovile Buteikiene 1, Vilma Jurate Balciuniene 1, Sandra Valeina 2 Arvydas Gelzinis 1 1 Lithuanian University of Health Sciences The Hospital of Lithuanian University of Health Sciences Kauno klinikos 2 Riga Children’s University hospital

Introduction: Coats disease is retinal vascular abnormality Introduction: Over the last decade intravitreal anti-VEGF usually affecting one eye . Coats disease with changes in the injections for Coats disease treatment has got far more brain, gastrointestinal system and bones is referred as Coats widespread use, however, fewer reports exist about anti- plus syndrome . The aim of this presentation is to report VEGF use in pediatric cases . The aim of this study is to the case of Coats-like disease with brain calcifications and review 5 paediatric Coats disease cases, managed using vascular abnormalities in both eyes in a 5 y/o boy. intravitreal anti-VEGF injections combined with cryo/ Methods: Case report laser applications and vitreoretinal surgery.

Results: Parents applied for consultation suspecting Methods: A retrospective case review . impaired visual acuity in one eye . VA was 0 02. in the right Results: All patients were boys, whose age at the time eye, and 1 0. in the left . The ophthalmologic examination of presentation ranged from 1 5. to 17 years old . Follow up of the right eye revealed retinal edema, macular exudates time was from 8 months to 3 years . According to Shields and telangiectasia in temporal and nasal retina . Initial classification 3 cases matched 2B, and 2 cases matched left eye examination appeared normal, however, later 3A stage . No . of intravitreal bevacizumab injections per performed FAG revealed abnormal retinal vasculature with patient ranged from 2 to 7, average period between telangiectasia and dilatations without retinal exudation . After 3 intravitreal injections of aflibercept 2mg at every subsequent injections was about 4 .5 weeks . In four 4 weeks, cryo and laser photocoagulation was applied for cases macular edema was considered as indication to the right eye. Retinal edema resolved after the first injection. start treatment with anti-VEGF (bevacizumab 1,25mg) . Some telangiectasia remained active and the treatment Combined laser and cryo treatment was applied in four was repeated after 6 months . After one year since initial cases, and vitreoretinal surgery was required in two cases treatment, VA in the right eye improved to 0 15,. central because of progression of exudative retinal detachment. exudates almost resolved, however new telangiectasia Conclusion: In all cases i/v anti-VEGF injections and retinal edema started to appear . For further treatment decreased retinal edema, alleviating further laser or patient was referred to Lausanne Jules Gonin Eye Hospital, cryo procedures . However, the effect was temporary and where combined laser and cryo therapy was applied. in all cases additional treatment methods, including Few months after presentation patient suffered vitreoretinal surgery in advanced cases, were required . accidental head trauma, and CT scan at emergency room I/v injections did not cause vitreoretinal traction in any revealed multiple brain calcifications, without signs of case . leukodystrophy on later performed MRI scans . Coats plus syndrome was suspected, however neurologic investigation was normal.

After the treatment (7 laser/cryo and 9 i/v injections during the first 19 months), FAG showed no vascular leakage in the right eye . However, macular edema reappeared, requiring additional anti-VEGF injections, which temporarily restored macular thickness and visual acuity(5 aflibercept 2mg. injections during the last year) . The left eye remains under observation.Genetic testing is not finished yet.

Conclusions: Combined treatment is an effective way to suppress vascular leakage . Atypical course of the disease and systematic findings suggest Coats-like disease approach, demanding thorough investigation of both eyes and general health condition’s . Intravitreal anti-VEGF injections are effective to achieve resolution of retinal edema and at least partial obliteration of pathologic vessels .

128 Poster Abstracts

vitreus, peripheral retinal snail-track degeneration and retinal P65 operculum on the right eye, which was treated with laser . The heterozygous mutation c 3437del,. p .(Gly1146Valfs*81) COL2A1 with autosomal dominant inheritance pattern was detected . His father has high myopia as well, he has undergone Stickler syndrome of two refractive surgery, retinal detachment operation and cataract genetically confirmed families in surgery . He was diagnosed the syndrome as well, with the mutation in COL2A1 gene c 3437del. (p Gly1146Valfs*81). . The girl’s Estonia grandfather has also high myopia and retinal degenerations, which have been laser treated . He has also had a cataract Kadi Palumaa 1, Aive Vahtramäe 1, Kairit Joost 2 operation . Another daughter of the family has high myopia . She and their grandfather will be genetically tested soon. 1 East Tallinn Central Hospital Eye Clinic An unrelated 16-year-old girl with progressive myopia and 2 2East Tallinn Central Hospital Clinic of Internal Diseases retinal degenerations has been diagnosed of Stickler syndrome type II with heterozygous c 810C>G. variant in COL11A1 gene . This mutation has not been previously described in patients Introduction: Stickler syndrome (hereditary arthro- and is therefore classified as variant of uncertain significance ophthalmopathy) is the most frequent inherited cause of (VUS) . The variant is not present in her mother, who also has retinal detachment . It is characterized by a distinctive facial degenerative myopia . She has undergone refractive surgery, appearance, eye abnormalities, hearing loss, and joint problems . which was followed by retinal detachment, and cataract This syndrome is divided into two types . Type I is caused by operation with postoperative macular oedema. mutations in the COL2A1 gene and present 80-90% of all cases . Conclusion: Here we describe one family with the first Type II results from mutations in COL11A1 gene and occurs genetically proven cases of Stickler syndrome type I in Estonia, in 10‑20% of cases . We present one family with type I and an and a patient with possible Stickler syndrome type II . The unrelated patient with possible Stickler syndrome type II . estimated prevalence of Stickler syndrome is around 1:10,000 Methods: We report the ophthalmologic evaluation of patients worldwide . Although the prevalence in Estonian population followed by detailed phenotypic evaluation by clinical geneticist is unknown, the disease is very likely to be underdiagnosed . and genetic panel testing of Stickler syndrome associated One possible cause for this is that those patients have retinal genes . detachment in early adulthood and the underlying cause remains unknown . It is important for ophthalmologists to Results: In Estonia, the first case of Stickler syndrome was recognise the clinical features and inheritance pattern of the diagnosed in January 2017 . A 16-year-old girl presented to the syndrome since it enables to prevent major complications by emergency department with floaters in both eyes. Ophthalmic careful follow-up of these patients . examination revealed bilateral vitreous opacifications, empty

129 Practical workshops

130 Practical workshops

PRE and POST EPOS workshops

Organized by EPOS and Children’s Clinical University Hospital

I. Pediatric oculoplastic surgery workshop. “Live surgery of rare and not so rare pediatric oculoplastic pathologies” .

30 05. .2019 . 8:30-12:30 Children’s Clinical University Hospital, Vienibas gatve 45, Riga Operating theater with transmission to CCUH Ebela auditory 4-6 oculoplastic patients will be operated .

Experts: Karla Chalaupka, MD, PhD (Switzerland) un Dr. Artur Klett, MD, PhD (Estonia),

II. Retinoblastoma. Controversies in diagnostic and treatment. Riga – one of states in Eastern Europe, where intra-arterial chemotherapy is possible .

30 05. .2019 . 13:00-16:00(17:00) Children’s Clinical University Hospital, Vienibas gatve 45, Riga Lectures in CCUH Ebela auditory, patient counselling or patient analysis

Experts: Francis Munier, MD, PhD (Switzerland), Maja Beck Popovics, MD, PhD (Switzerland), Karlis Kupčs, MD, PhD (Latvia), Sarmite Dzelzite, MD (Latvia), Sandra Valeina( Latvia)

III. Cerebral Visual Impairment. Theory, examination, diagnostic, life. “We see not only with eyes . “

2 06. .2019 . 9:00- 13:00 Children’s Clinical University Hospital, Vienibas gatve 45, Riga Lectures in CCUH Ebela auditory, patient counseling in CCUH Eye diseases clinic with transmission to CCUH Ebela auditory

Experts: Richard Bowman, MD (GOSH, UK), Niranjan Pehere, MD (Prasad Eye Institute, Hyderabad, India). Ligita Ģeida, MSc (CCUH/ Strazdmuižas Developmental center for visually impaired and blind children, Latvija .

Each workshop has been credited 5 Latvian Medical Association (LMA) credit points .

131 Practical workshops

Pediatric oculoplastic surgery Retinoblastoma. Diagnostic workshop. and treatment.

“Live surgery of rare and not so rare pediatric Latvia- one of the countries in Eastern Europe, oculoplastic and lacrimal pathologies” where intra-arterial retinoblastoma therapy is possible .

30 05. .2019 . 8:30-12:30 30 05. .2019 . 13:00-16:00(17:00) Children’s Clinical University Hospital, Vienibas gatve 45, Riga Children’s Clinical University Hospital, Vienibas gatve 45, Riga Operating theater with transmission to CCUH Ebela auditory Lectures in CCUH Ebela auditory 3 oculoplastic patients will be operated Experts: Francis Munier, MD, PhD (Switzerland), Maja Beck Popovics, MD, PhD Experts: Karla Chalaupka, MD, PhD (Switzerland), Karlis Kupčs, MD, PhD (Latvia), (Switzerland) un Dr. Artur Klett, MD, PhD Sarmite Dzelzite, MD (Latvia), Sandra (Estonia), Iverta Mežatuča, MD (Latvia), Valeina,MD, MSc, FEBO (Latvia) Sandra Valeiņa, MD, MSc, FEBO( Latvia)

Program Live surgery will be performed, and the pre- and postoperative follow-up discussed, 13:00-13:20 emphasizing various types of congenital Sandra Valeina “Retinoblastoma - a Challenge ptosis surgery, other surgeries depending on for Pediatric Ophthalmologists in Small availability of patients . The audience can also Countries” bring their own cases to be discussed . 13:20- 13:50 Special focus will be on the timing of the Francis Munier “Conservative treatment surgical approach, on different techniques strategies for retinoblastoma”. and materials . The family´s role in decision making will also be considered . 13:50-14:20 Maja Beck- Popovics “Challenges for the pediatric oncologist in the era of new Patient consultations will be held on treatment techniques” . 29 05. 2019. . (with transmission to Ebela 14:20-14:40 auditory during the workshop on 30 05. .2019 .) Discussion .

14:40-15:10 Coffee break .

15:10-15:40 Sarmite Dzelzite “Intraocular tumors- radiological diagnosis and differential diagnosis”

132 Practical workshops

15:40- 16:10 The first of these changes took place Kārlis Kupčs “Technical Aspects of Intraarterial in the mid-1990s when the concept of Chemotherapy” . chemoreduction followed by sequential focal treatment supplanted external beam 16:10-16:30 (17:00) radiotherapy, which was found to induce Discussion unendurable morbidity and mortality . The second change started in 2008 with the Summaries. replacement of chemoreduction by in situ chemotherapy precisely targeting the 1. Retinoblastoma - a Challenge for tumor burden according to the involved Pediatric Ophthalmologists in Small ocular compartment, namely injections Countries” of chemotherapeutic agents into a) the Sandra Valeina, Children’s Clinical University ophthalmic artery for retinal tumors and Hospital, Riga, Latvia subretinal seeding, b) the vitreous cavity Retinoblastoma – the most common for vitreous disease, and c) anterior and intraocular tumor in children’s age, in posterior chambers for aqueous seeding . Latvia and in other countries with smaller The implementation of these targeted population, is diagnosed very rarely- on chemotherapies has immensely improved average, only one new Rb case per year . In the management of retinoblastoma by order to ensure high quality treatment of this 1) eradicating the use of external beam complex disease, physicians should cooperate radiotherapy, 2) reducing drastically the in developing larger and smaller networks indications to primary and secondary (multidisciplinary specialist network in enucleations, 3) diminishing significantly one clinic and state, Baltic Rb network, Rb the systemic exposure to chemotherapeutic group, ERN-EYE, ERN-PedCan), acquiring agents, and last but not least 4) improving and sharing practical skills and experience the quality of life of the affected children . in expert and competence centers . The 3. Challenges for the pediatric oncologist presentation shows retinoblastoma’s in the era of new treatment techniques incidence, treatment possibilities in Latvia Maja Beck-Popovic, Pediatric Hematology and Baltic States, cooperation in treatment Oncology Unit, University Hospital, Lausanne, between European expert centers and local Switzerland centers . Three case-presentations will be Chemotherapy is the mainstay of treatment presented. The first shows the cooperation, in children with cancer . Most of the tumors its types and benefits. The second and third display a rapid growth pattern and are very cases reflect intra-arterial chemotherapy and sensitive to chemotherapeutic agents . This its results in Latvia . allowed the development of efficient curative 2. Conservative treatment strategies for treatments for many diseases avoiding retinoblastoma in 2019 other options such as radiotherapy, known Francis L . Munier, Jules-Gonin Eye Hospital, to gender sequelae in a growing organism Lausanne, Switzerland and secondary tumors . A further task of the Over the last three decades, conservative pediatric oncologist’s activity is evaluation management of retinoblastoma has and surveillance of treatment toxicity . Adverse undergone two major paradigm changes . events related to classical intravenous chemotherapy are mostly well known and

133 Practical workshops

treatment guidance consists of a balance mark heterogenous enhancement, post between benefit and acceptable side effects contrast images better delineate optic of treatment . Furthermore, achievements nerve and transscleral extention, anterior in the treatment of pediatric cancer are segment involvement, on T2 images tumor deeply anchored in collaborative prospective is hypointense to vitreous, this sequence is protocols delivering the necessary scientific usefull for demonstrating retinal detachment . evidence for progress and improvement . International intraocular retinoblastoma classification IIRC is based on imaging, this Retinoblastoma is a typical representative of a scheme groups tumors from A-E, depending chemosensitive pediatric malignant disease . on their size, location and additional features, Introduction of intravenous chemotherapy including retinoblastoma seeds and/ or 25 years ago has tremendously improved retinal detachment. Modified ICRB scheme outcome and decreased sequelae . The uses more detailed description of advanced introduction of a new treatment techniques stages, also additional classification of vitreus by local administration of chemotherapy such seeds is possible . Extraocular disease is as intravitreous and intraarterial treatments classified according IRSS or cTNMH schemes. has allowed a major step forward, from cure only to cure with eye/vision preservation and According to “Guidelines for imaging avoidance of sequelae/secondary cancers . retinoblastoma: imaging principles and MRI The role of the pediatric oncologist needs to standardization” published in 2012, high- be redefined in this new setting resolution MRI is the best imaging modality for pretreatment tumor assessment, CT is no 4. Intraocular tumors of childhood- radiological diagnosis and differential longer recommended and checklist for MRI diagnosis radiology reports is also defined. Sarmite Dzelzite, Children’s Clinical University Medulloepitelioma -2nd most common Hospital & Pauls Stradins Clinical University pediatric primary intraocular tumor, is rare Hospital, Riga, Latvia embryonic tumor of non-pigmented ciliary epithelium . Intraocular tumors are usually diagnosed by ophthalmologist on the basis of fundoscopy Retinal astrocytic hamartoma- glial tumor of and ultrasonography . The most common the retinal nerve fiber layer, usually associated intraocular tumor in pediatric patients- with neurofibromatosis ,or tuberous sclerosis retinoblastoma on US appears as irregular Choroidal hemangiomas are typical mass, more echogenic than the vitreous body feature of Sturge-Weber syndrome, retinal with calcifications (sensitivity 92-95%) Why hemangiomas for von Hippel- Lindau disease do we need other imaging modality ? Mostly patient are treated without histopathological Differential diagnosis also includes non- conformation, the treatment strategy is neoplastic pathology that cause leucocoria: mostly based on imaging and MRI precisely PHPV- persistent hyperplastic primary showing local tumor extent, associated vitreous has typical radiological appearance- intracranial abnormalities . CT due to radiation central tissue stalk of hyaloid remnant is not used for evaluation of ocular pathology . Coats disease Characteristic features of retinoblastoma on MRI are: T1- variable, mildly hyperintense Ocular toxocariasis- retinal granuloma, retinal to vitreous, tumor shows moderate, to detachments

134 Practical workshops

5. Technical Aspects of Intra-Arterial Cerebral Visual Impairment. Chemotherapy for Retinoblastoma with Insight in Neurointerventional Procedures Theory, examination, in Children. diagnostic, life. Karlis Kupcs, Pauls Stradins Clinical University “We see not only with eyes . “ Hospital, Riga, Latvia . In last decades interventional neuroradiology (INR) became a method of choice in 2 06. .2019 . 9:00- 14:00 treatment of different intracranial vascular Children’s Clinical University Hospital, diseases in children . For Intracranial Vienibas gatve 45, Riga aneurysms, arteriovenous malformations and arteriovenous fistulas INR plays a key role in Lectures in CCUH Ebela auditory, patient management . The technical development of counseling in CCUH Eye diseases clinic with devices provides more precise treatment and transmission to CCUH Ebela auditory durable outcome, with less complications and Experts: Richard Bowman, MD (GOSH, UK), bad results . Nevertheless, the INR procedures Niranjan Pehere, MD (Prasad Eye Institute, in children and infants are technically more Hyderabad, India). Ligita Ģeida, MSc (CCUH/ challenging in comparison with adolescents . Strazdmuižas Developmental center for The intra- arterial chemotherapy for visually impaired and blind children, Latvija). retinoblastoma is introduced relatively recently . Performed technically correctly and following indications this method has 9:00-9:30 emerged as a remarkably effective strategy How does brain see: when normal and for treating retinoblastoma . when damaged? (30min) Objectives- To make audience familiar with different areas of the brain involved in visual processing and their functions . This would help them understand possible difficulties with vision processing when these areas are damaged .

9:30-10:00 How does it feel like to have CVI? (30min) Objectives- To make audience give an experience of how possibly a child with CVI sees . This may help them understand child’s world better and enable them to design habilitational strategies to cope in a better way

10:00-11:00 Patient examination or video analisis

135 Practical workshops

11:00-11:30 according to the developmental age and Coffee break. to work out the interventional strategies to support and foster child’s development . 12:30-12:15 In Latvia services of early intervention for Low functioning CVI- Assessment and long time had been understood mainly as interventions (45min) the medical care and attempts to treat the Objectives - To describe a step-by-step diagnosis instead to train skills to blind or approach of how to assess a child with CVI visually impaired children or to join both having very low vision or no evidence of vision activities . In many cases it used to be reason and taking clues from the assessment, how that children at the age 6-7 years (before the to plan intervention strategies . school) didn’t have or had very poor social, 12:15-13:00 communication, mobility, pre-learning and learning skills . High functioning CVI- Assessment and interventions (45min) The first attempts to establish system of early intervention for blind and visually impaired Objectives: This lecture aims at teaching step- children in Latvia started in 1997 when the by-step approach of how to profile a child’s Clinic of Eye Diseases of Children’s State higher visual functions from systematic Hospital in collaboration with Strazdumuiza history taking, tests to demonstrate those Residential School for Blind and Visually sings in the clinic, role of clinical psychologist Impaired Children organized the first and finally how to use these inputs to design Summer camp for preschool age children an intervention plan for an individual child . with visual impairments . Organizing these Review of current research/possible research/ camps lasted for 7 years with the following future directions break . Then in 2014 Strazdumuiza Residential School- Training Centre for Blind and Visually 13:00-14:00 Impaired Children in close collaboration Discussion and/or with the Clinic of Eye Diseases established Program of Early Intervention for blind, the Program of Early Intervention for blind, visually impaired and multidisabled visually visually impaired and multidisabled visually impaired children in Latvia impaired children of age 0- 7 . In frames of this Program blind, low vision or multidisabled Ligita Geida, Mag . Paed ., Strazdumuiza visually impaired children with their families Secondary School- Training Centre for Blind were invited for common activities 2 times a and Visually Impaired Children year for 3 days . The activities included: Early intervention is much more important for •• Individual consulting by specialists blind and low vision children as there are skills (special pedagogue of visually that children with this kind of special needs impaired; special pedagogue; music can’t acquire by observing and imitating therapist; physiotherapist; psychology; activities of people around unlike children speech therapist; social pedagogue; with normal visual functioning . Therefore, it ophthalmologist; other specialists) is very important to understand the state of visual functioning in children including those •• Assessment of visual and physical with multiple disabilities, the impact of visual functioning abilities; impairment on development of certain skills •• Assessment of social functioning abilities;

136 •• Individual educational planning (IEP); •• Educational and creative activities for children and parents; •• Organized social activities for parents . The main purposes of these activities were: •• To strengthen families by providing them with knowledge and advices for the development of child’s communication, social, mobility and learning skills; •• To work out the individual suggestions for every child (IEP); •• To follow the child’s development in progress .

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