Australian Orthoptic Journal Orthoptic Australian 2012 Volume 44 (1)

Ocular Complications of Mucopolysaccharidoses

Juvenile Idiopathic Arthritis and

Ocular Myositis AUSTRALIAN ORTHOPTIC JOURNAL - 2012 VOLUME 44, NUMBER 1 Congenital Fibrosis of the 04 Ocular Complications of Mucopolysaccharidoses Azura Ramlee, Maree Flaherty, Sue Silveira, David Sillence

09 Juvenile Idiopathic Arthritis and Uveitis in a Paediatric Sydney Population Katie Geering, Stephanie Crofts

13 Ocular Myositis: A Case Study Melanie Lai

16 A Case Study: Management Options for a Patient with Congenital Fibrosis of the Extraocular Muscles Frances Vogrin, Kailin Karen Zhang

20 Named Lectures, Prizes and Awards of Orthoptics Australia

22 Presidents of Orthoptics Australia and Editors of the Australian Orthoptic Journal

23 Orthoptics Australia Office Bearers, State Branches & University Training Programs 2012 Volume 44 (1) 44 Volume 2012

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Featuring papers on strabismus, ocular Dr. Connie Koklanis & Linda Santamaria 1930 Monroe Street, 3rd Fl., Madison, WI 53711-2059 motility, ophthalmic technology, paediatric Editorial Office: Phone: (608) 263-0668 • Fax: (608) 263-1173 [email protected] ophthalmology, neuro-ophthalmology, low Dept. of Clinical Vision Sciences, US only toll-free fax: (800) 258-3632 vision and rehabilitation. La Trobe University 3086 Australia [email protected] • www.wisc.edu/wisconsinpress/journals 2012 Volume 44 (1)

The official journal of Orthoptics Australia ISSN 0814-0936

Editors in Chief Konstandina Koklanis BOrth(Hons) PhD Linda Santamaria DipAppSc(Orth) MAppSc

Editorial Board Neryla Jolly DOBA(T) MA Linda Malesic BOrth(Hons) PhD Kyle Arnoldi CO COMT (Buffalo NY) Karen McMain BA OC(C) COMT (Halifax, Nova Scotia) Carolyn Calcutt DBO(D) (London, England) Jean Pollock DipAppSc(Orth) GradDip(Neuroscience) MSc Jill Carlton MMedSci(Orth), BMedSci(Orth) Gill Roper-Hall DBOT CO COMT Nathan Clunas BAppSc(Orth)Hons PhD Kathryn Rose DOBA DipAppSc(Orth) GradDip(Neuroscience) PhD Elaine Cornell DOBA DipAppSc MA PhD Sue Silveira DipAppSc(Orth) MHlthScEd Catherine Devereux DipAppSc(Orth) MAppSc Kathryn Thompson DipAppSc(Orth) GradCertHlthScEd MAppSc(Orth) Kerry Fitzmaurice HTDS DipAppSc(Orth) PhD Suzane Vassallo BOrth(Hons) PhD Mara Giribaldi BAppSc(Orth) Meri Vukicevic BOrth PGDipHlthResMeth PhD Julie Green DipAppSc(Orth) PhD Liane Wilcox DOBA MAppSc

The Australian Orthoptic Journal is peer-reviewed and the official biannual scientific journal of Orthoptics Australia. The Australian Orthoptic Journal features original scientific research papers, reviews and perspectives, case studies, invited editorials, letters and book reviews. The Australian Orthoptic Journal covers key areas of orthoptic clinical practice – strabismus, amblyopia, ocular motility and anomalies; low vision and rehabilitation; paediatric ophthalmology; neuro-ophthalmology including ; ophthalmic technology and biometry; and public health agenda. Published by Orthoptics Australia (Publication date: March 2013). Editor’s details: Konstandina Koklanis, [email protected]; Department of Clinical Vision Sciences, La Trobe University. Fax: +61 3 9479 3692. Linda Santamaria, [email protected]; Department of Surgery, Monash University. Email: [email protected]. Design & layout: Campus Graphics, La Trobe University. Printer: Printing Edge Melbourne Pty Ltd. Publisher: Orthoptics Australia (PO Box 1104, Greythorn, VIC 3104 Australia). All rights reserved. Except as permitted by the Copyright Act 1968, pursuant to a copying licence you may have with the reproduction rights organisation Copyright Agency Limited (www.copyright.com.au) or if the use is for personal use only, no part of this publication may be reproduced, stored in a retrieval system, communicated or transmitted in any form or by any means; electronic, mechanical, photocopying, recording or otherwise; without prior permission of the copyright owners. By publishing in the Australian Orthoptic Journal, authors have conferred copyright ownership to Orthoptics Australia, Copyright 2012 © Orthoptics Australia 2012. All rights reserved.

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CONTENTS

04 Ocular Complications of Mucopolysaccharidoses Azura Ramlee, Maree Flaherty, Sue Silveira, David Sillence

09 Juvenile Idiopathic Arthritis and Uveitis in a Paediatric Sydney Population Katie Geering, Stephanie Crofts

13 Ocular Myositis: A Case Study Melanie Lai

16 A Case Study: Management Options for a Patient with Congenital Fibrosis of the Extraocular Muscles Frances Vogrin, Kailin Karen Zhang

20 Named Lectures, Prizes and Awards of Orthoptics Australia

22 Presidents of Orthoptics Australia and Editors of the Australian Orthoptic Journal

23 Orthoptics Australia Office Bearers, State Branches & University Training Programs 4 AUSTRALIAN ORTHOPTIC JOURNAL

Ocular Complications of Mucopolysaccharidoses

Azura Ramlee, MBBS MS(Ophth)1 Maree Flaherty, FRANZCO FRCO1 Sue Silveira, DipAppSc(Orth) MHScEd2 David Sillence, FRACP FAFRM1

1The Children’s Hospital at Westmead, Sydney, Australia 2Renwick Centre, Royal Institute for Deaf and Blind Children, Sydney, Australia

ABSTRACT a previously unrecognised association of MPS VI. Only 7 out of 18 children with MPS III (Sanfilippo) were examined, Purpose: To study the extent of ocular involvement and clinically none were found to have . Among among children with mucopolysaccharidoses (MPS) at The those who were cooperative for vision assessment, four Children’s Hospital at Westmead, Sydney, Australia. were found to see 6/12 or better, while the majority had best corrected vision between 6/15 and 6/60. Three patients had Methods: This study consists of a retrospective consecutive documented disease progression leading to blindness. All case series, with review of medical records of children with four MPS VI patients receiving enzyme replacement therapy confirmed diagnosis of MPS from 1997 to 2009. (ERT) had stable visual acuity with no ocular progression Results: Forty-five children had MPS but only 29 hada (6.5 years mean follow-up). However progression of corneal record of previous formal ocular assessment. Of these, more clouding was noted in the only MPS I patient receiving ERT. than half had documented ocular involvement, including Conclusion: Ocular involvement in MPS may cause corneal clouding, common among the MPS I subtypes and significant vision impairment. Formal ophthalmic review is MPS VI (Maroteaux-Lamy) patients. Posterior segment important for early detection and treatment to help achieve changes, including pigmentary retinopathy, epiretinal the best visual outcome. membranes and changes were more common in MPS II (Hunter). Two children with MPS VI were also Keywords: mucopolysaccharidoses, Hurler, Scheie, Hunter, noted to have epiretinal membranes and this is likely to be Sanfilippo

INTRODUCTION findings can result in significant vision impairment.1 There have been recent advances in the treatment of he mucopolysaccharidoses (MPS) are a group MPS. Although bone marrow transplantation (BMT) has of inborn errors of metabolism resulting from a known mortality and morbidity, in its current regimen as deficiency of specific lysosomal enzymes necessary haematopoietic stem cell transplantation (HSCT) it is an to break down complex carbohydrates called increasingly effective treatment for some MPS disorders. It Tglycosaminoglycans (GAG). As a result glycosaminoglycans is a particularly effective treatment for children with MPS and other substances including glycosphingolipids, I (Hurler syndrome) transplanted less than two years of accumulate within various tissues and organs of the body. age. Successful engraftment replaces the relevant deficient The most common MPS disorders are Type I (encompassing enzyme, allowing for biochemical and clinical improvement the severe Hurler and the attenuated Hurler-Scheie and and increased lifespan.2,3 More recently, enzyme- Scheie spectrum), Type II (Hunter), Type III (Sanfilippo), replacement therapy (ERT) has been shown to decrease the Type IV (Morquio) and Type VI (Maroteaux-Lamy). Affected level of urinary GAG, decrease hepatosplenomegaly and patients typically have coarse facial features, skeletal increase joint mobility.4,5 Combined ERT/HSCT have been dysplasia, joint contractures and hepatosplenomegaly. reported as efficacious therapy for young patients with MPS Some will have significant cardiac and respiratory disease, I (Hurler) with much reduced mortality and morbidity6 and intellectual impairment and neurological involvement. is now the treatment of choice. ERT alone is now available Ocular deposition leads to corneal clouding, , for MPS I (Hurler-Scheie), MPS II (non-neurological) and pigmentary retinopathy and involvement. These MPS VI of intermediate or milder type. Whether or not these Correspondence: Sue Silveira treatment modalities alter long-term ocular progression Renwick Centre, Royal Institute for Deaf and Blind Children remains uncertain. The full extent of ocular and visual 361-365 North Rocks Road, North Rocks, NSW 2151, Australia Email: [email protected] morbidity from MPS disorders is not well documented. The

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objective of this study was to review the extent of ocular advanced in the Hurler phenotype and least advanced complications among children diagnosed and treated for in the Scheie phenotype. Pigmentary retinopathy was MPS at a tertiary paediatric hospital. noted in two patients with one confirmed by an abnormal electroretinogram (ERG). One child had papilloedema whereas another child had marked elevation of the optic METHODS discs without evidence of raised intracranial pressure (pseudopapilloedema). We conducted a retrospective review of the medical records Ocular findings in MPS II of children diagnosed with MPS who received treatment at The Children’s Hospital from July 1997 to June 2009. Five out of the nine MPS II children reviewed had significant Diagnosis of the MPS subtypes was confirmed through their ocular involvement. Posterior segment involvement was clinical phenotypes and biochemical assays. The children more commonly seen in the children with MPS II compared who underwent formal ophthalmic assessment within to other types of MPS. Pigmentary retinopathy and epiretinal the study period were included. All ocular findings and membranes were found in two children, papilloedema in one conditions noted in the medical records were documented and optic atrophy in two. In one boy the optic atrophy was including visual acuity, presence of corneal clouding, associated with marked thickening of the posterior on glaucoma, pigmentary retinopathy and optic nerve changes. ocular ultrasound. No MPS II children were diagnosed with Progression of ocular complications during the course of corneal clouding, as expected. follow-up and refractive status were also assessed. Visual Ocular findings in MPS III outcome was determined by the best corrected visual acuity in the better eye (if unequal) at the most recent eye review, Eighteen children were diagnosed with MPS III, however, to reflect the child’s functional vision. Institutional Ethics only seven underwent formal ophthalmic examination. Committee approval was obtained for this study. None of them were known to have night blindness or were diagnosed with ocular involvement including the anticipated pigmentary retinopathy.1 Unfortunately, none of RESULTS these children underwent ERG. Ocular findings in MPS IV A total of 45 children (ranging from 0 - 18 years) were diagnosed with MPS during the 12-year study period, with One child was diagnosed with MPS IV and was noted to MPS III being the most common (40%) followed by MPS I have mild corneal clouding which did not significantly affect (24.5%), MPS II (24.5%), MPS VI (9%) and MPS IV (2%). Only vision. Fundoscopy did not show any evidence of retinopathy twenty-nine children (64%) received formal ophthalmic or optic disc changes. review, of whom 18 (62%) children had significant ocular Ocular findings in MPS VI involvement. Table 1 summarises the number of children with each type of MPS and their ocular findings. All four children diagnosed with MPS VI underwent ophthalmic examination. All had corneal clouding of

Table 1. Distribution of MPS patients and their ocular complications MPS types Those who underwent Those with ocular Corneal Glaucoma Pigmentary Optic nerve Epiretinal N (%) ocular examination involvement clouding retinopathy involvement membrane MPS I 8 8 8 0 2 2 0 11 (24.5%) MPS II 9 5 0 0 2 3 2 11 (24.5%) MPS III 7 0 0 0 0 0 0 18 (40%) MPS IV 1 1 1 0 0 0 0 1 (2%) MPS VI 4 4 4 1 0 1 2 4 (9%)

Ocular findings in MPS I varying degrees, with one severe enough to warrant a Eight out of eleven children with MPS I sub-types underwent corneal graft. None of the MPS VI children had pigmentary ophthalmic review. All of these children had significant retinopathy; this was supported by a normal ERG in one ocular involvement with corneal clouding, which varied child. Papilloedema was noted in one child. Interestingly, in severity according to the subtype present, being most epiretinal membranes were also found in two children with MPS VI. One patient was documented to have glaucoma,

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with intraocular pressures medically controlled by topical in this study was more common in the MPS I subtypes anti-glaucoma medication. and MPS VI1; no children with MPS II or MPS III in this study showed corneal clouding. A favourable prognosis Visual acuity status for corneal transplant has been previously documented 7,8,9,10,11 Visual acuity was assessed in 20 children using an age and in MPS disorders, including MPS VI. In our study, intellectually appropriate vision test, including Teller Acuity the one child who underwent corneal transplant for severe Cards, Kay Picture test or the Snellen chart. Four children corneal clouding had MPS VI. The donor remained had a visual acuity of 6/12 or better while the majority (11 clear for a three-year follow-up period with best corrected children) had vision between 6/15 and 6/60, and five had vision of 6/20. vision less than 6/60. Analysis of visual acuity over time Glaucoma in MPS results from GAG accumulation within showed most children’s vision remained relatively stable. the anterior segment structures of the eye, including the Unfortunately, three children (two with MPS I, one with trabecular meshwork, causes narrowing of the drainage MPS II) showed significant visual deterioration leading to angle and obstruction of the aqueous outflow.1 In a study severe vision impairment (defined as visual acuity worse of 121 patients with MPS VI (estimated to be about 10% than 6/60) during the study period. One MPS I child had of MPS VI patients globally) 10% were on anti-glaucoma severe hydrocephalus and optic atrophy associated with treatment.12 In our study, the only child diagnosed with no perception of light in one eye and perception of light glaucoma also had MPS VI. However, the prevalence of only in the fellow eye. In the other MPS I child the cause glaucoma in our study could have been underestimated of the severely impaired vision was progression of corneal due to the complex nature of examining for glaucoma clouding. The MPS II child suffered from hydrocephalus in a cohort of MPS children who often had intellectual with resulting optic atrophy and optic nerve compression impairment and ocular complications such as corneal from posterior scleral thickening around the optic nerve. clouding which prevented a clear view of the relevant ocular structures. Refractive status Retinopathy was noted in two children with MPS I and two Cycloplegic refraction was successfully performed in 20 children with MPS II. Previous studies have documented children. Seven had normal refraction for their age, while moderate to severe pigmentary retinal degeneration the remaining thirteen had refractive errors. Eight children associated with ERG abnormalities as a prominent feature had significant hypermetropia, three had and two of MPS III.1,13 In our study, no MPS III children were found had myopic . Glasses were prescribed for four to have any ocular complications. However, the onset of children in whom the was considered to be pigmentary retinal degeneration may be delayed until the main cause of reduced vision. adolescence and our subjects were too young for this to Bone marrow transplant, enzyme replacement therapy be detected. Furthermore ERG had not been performed to and ocular findings detect the presence of retinal changes. Retinopathy was also not found in any of the children with MPS IV or MPS Two MPS I children underwent BMT, with one child receiving VI. This was confirmed in one individual with MPS V1 who ERT prior to BMT. Both had no documented progression of had a normal ERG. Retinopathy has not been described their ocular findings over a mean follow-up period of 6.5 among MPS VI children in the literature apart from one years. Vision remained stable (6/12 equivalent) in one child child who had reduced dark-adapted amplitude on ERG.1,9 and stable at 6/75 in the other due to pigmentary retinopathy. Neither child developed severe dry eye ( Four children (two with MPS II and two with MPS VI) were sicca) or cataract as a consequence of BMT. However, one found to have epiretinal membranes. This layer of tissue child with MPS I (Hurler-Scheie subtype) experienced a overlying the macula has been previously reported in MPS deterioration of vision due to the progression of corneal II14 and Type III and IV mucolipidoses.15,16 To our knowledge, clouding despite ERT (5 years follow-up). Four children epiretinal membranes have not been previously reported with MPS VI received ERT and had stable vision and ocular in MPS VI and this finding is suggestive of a new ocular findings whilst undergoing therapy, with a mean follow-up association in this MPS subgroup. Whether or not these period of 6.5 years. membranes represent deposition of GAG within the retinal layers is unclear. In our series six children had optic nerve involvement DISCUSSION including papilloedema, elevation of the optic nerves due to GAG deposition, and optic atrophy. Three of these Ocular findings in MPS are frequent and may lead to children had MPS II, and optic nerve involvement in significant vision impairment due to corneal clouding, MPS II has been well documented.17,18 This occurs as a glaucoma, pigmentary retinopathy and optic nerve consequence of raised intracranial pressure or direct GAG involvement. Similar to previous studies, corneal clouding accumulation within the optic nerve and surrounding

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meninges compressing the optic nerve. Increased scleral CONCLUSION thickness, especially posteriorly, appears to be a common association in MPS II and no doubt contributes to the Ocular involvement is common in MPS and in some compression of the optic nerve at its exit from the eye.18,19 individuals it may be severe enough to lead to significant vision impairment. This study has revealed that MPS Bone marrow transplantation (BMT) has been reported to children may not necessarily access regular ophthalmic reduce corneal clouding,20,21 to contribute to resolution of care. To ensure MPS sufferers enjoy the best possible optic nerve swelling8,20 and improvement in the retinal vision, formal ophthalmic review for the early detection of function as measured by ERG in MPS I.20 In a study of 23 treatable ocular conditions is vital. Health professionals patients (19 with MPS I)8 it was shown that a reduction need to be aware of the likelihood of ocular involvement of corneal clouding was seen in approximately one-third in MPS. of patients, while a similar number showed worsening of corneal clouding (mean follow-up period of 6.1 years). In view of the findings of this study, we propose that Also in this study, approximately 80% of patients showed MPS children undergo comprehensive ophthalmic initial ERG improvement within one year of BMT followed review on a yearly basis, to detect potentially treatable by a decline after this time.8 Interestingly, 30% of patients causes of vision impairment. Children with more severe had papilloedema and raised intracranial pressure ocular manifestations and progression should be seen prior to BMT, which resolved following BMT.8 No ocular more frequently. A prospective study at our centre has improvement occurred in our two MPS I children following recently commenced and will gather detailed data on the BMT although their visual acuity, refractive status and ocular manifestations, progression and visual outcome of ocular findings remained stable. In one child however, children diagnosed with MPS. The findings of this study significant corneal clouding precluded any view of the will be used to establish guidelines regarding frequency optic discs. of ophthalmic review and efficiencies in assessment of children with MPS. ERT has now become available for the treatment of MPS I, MPS II and MPS VI. Kakkis and colleagues found no improvement in corneal clouding over the course of ACKNOWLEDGEMENTS a year despite the normalisation of liver size and near normalisation of urinary GAG and improvement in other Financial support for this study was provided by Genzyme systemic symptoms in eight MPS I children who received Australasia. The sponsor did not contribute to or influence ERT.4 Similar findings were also found among MPS I the collection of data or preparation of the manuscript patients receiving ERT in another study with vision stable in any way. The authors have no proprietary interest in in five out of eight patients over a four-year follow-up the manufacture or distribution of enzyme replacement period and vision deteriorating in three patients, two due therapy. to progressive corneal clouding.10 In a more recent study of seven patients with MPS VI, ocular findings remained We thank the Rehabilitation and Genetic Metabolic stable in five patients with no substantial change in corneal Physicians of the Lysosomal Disorders Management clouding or any improvement in the optic nerve pathology Service at The Children’s Hospital at Westmead for (mean follow-up period of 44 months).11 referral of patients and Professor John Christodoulou for review of the manuscript. The MPS I child in our study who received ERT had progressive corneal clouding. Ocular findings remained stable throughout the course of follow-up in all our four REFERENCES MPS VI patients who received ERT (mean follow-up of 6.5 years). There was no evidence of improvement in visual 1. Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and acuity or reduction of the corneal clouding. the eye. Surv Ophthalmol 2006;51(1):1-17. This study was a retrospective analysis, and shortcomings 2. Hobbs JR, Hugh-Jones K, Barrett AJ, et al. Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by are acknowledged. At times medical record documentation bone-marrow transplantation. Lancet 1981;2(8249):709-712. was incomplete and variability of visual assessment 3. Krivit W, Pierpont ME, Ayaz K, et al. Bone-marrow transplantation techniques made analysis difficult. 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6. Bijarnia S, Shaw P, Vimpani A, et al. Combined enzyme replacement of Sanfilippo’s syndrome. Arch Ophthalmol 1983;101(8):1255-1262. and haematopoietic stem cell transplantation in Hurler syndrome. J 14. Narita AS, Russell-Eggitt I. Bilateral epiretinal membranes: a new Paediatr Child Health 2009;45(7-8):469-472. finding in Hunter syndrome. Ophthalmic Genet 1996;17(2):75-78. 7. Naumann G. Clearing of cornea after perforating keratoplasty in 15. Traboulsi El, Maumenee IH. Ophthalmologic findings in mucolipidosis mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). N Engl J III (Pseudo-Hurler polydystrophy). Am J Ophthalmol 1986;102(5):592- Med 1985;312(15):995. 597. 8. Gullingsrud EO, Krivit W, Summers CG. Ocular abnormalities in the 16. Riedel KG, Zwaan J, Kenyon KR, et al. Ocular abnormalities in mucopolysaccharidoses after bone marrow transplantation. Longer mucolipidosis IV. Am J Opthalmol 1985;9(2):125-136. follow-up. Ophthalmology 1998;105(6):1099-1105. 17. Beck M, Cole G. Disc oedema in association with Hunter’s syndrome: 9. Ashworth JL, Biswas S, Wraith E, Lloyd IC. The ocular features of the ocular histopathological findings. Br J Ophthamol 1984;68(8):590- mucopolysaccharidoses. Eye (Lond) 2006;20(5):553-563. 594. 10. Pitz S, Ogun O, Bajbouj M, et al. Ocular changes in patients with 18. Collins ML, Traboulsi El, Maumenee IH. Optic nerve head swelling and mucopolysaccharidosis I receiving enzyme replacement therapy. Arch optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology Ophthalmol 2007;125(10):1353-1356. 1990;97(1):1445-1449. 11. Pitz S, Ogun O, Arash L, et al. Does enzyme replacement therapy 19. Topping TM, Kenyon KR, Goldberg MF, Maumenee AE. influence the ocular changes in type VI mucopolysaccharidosis? Ultrastructural ocular pathology of Hunter’s syndrome. Systemic Graefes Arch Clin Exp Ophthalmol 2009;247(7):975-980. mucopolysaccharidosis type II. Arch Ophthalmol 1971;86(2):164-177. 12. Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary 20. Summers CG, Purple RL, Krivit W, et al. Ocular changes in glycosaminoglycans and the walk test as indicators of disease mucopolysaccharidoses after bone marrow transplantation. A progression in a survey of subjects with mucopolysaccharidosis VI preliminary report. Ophthalmology 1989;96(7):977-984. (Maroteaux-Lamy syndrome). Am J Med Genet A 2005;134A(2):144- 150. 21. Vellodi A, Young EP, Cooper A, et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch 13. Del Monte MA, Maumenee IH, Green WR, Kenyon KR. Histopathology Dis Child 1997;76(2):92-99.

BINOCULARBINOCULAR VISION VISION& Strabismus & Strabismus Quarterly Quarterly the Firstthe and First Original and Original International International Scientific Scientific Periodical Periodical devoted devo to ted to StrabismusStrabismus and Amblyopia, and Amblyopia, on-line inon-line MEDLINE in MEDLINE

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Juvenile Idiopathic Arthritis and Uveitis in a Paediatric Sydney Population

Katie Geering, BAppSc(Orth) Stephanie Crofts, BAppSc(Orth)Hons

Orthoptic Department, The Children’s Hospital at Westmead, Sydney, Australia

ABSTRACT uveitis differs dependent on the type of JIA present. An ophthalmology assessment forms a vital part of the Juvenile idiopathic arthritis (JIA) is an inflammatory assessment for children with JIA. condition that affects 1 in 1,000 children in Australia. JIA The aim of this study was to ascertain the prevalence of can be defined by inflammation in one or more joints for visual complications associated with children who have a period of at least six weeks, with an onset younger than a diagnosis of JIA. A retrospective review of children 16 years of age. JIA is sub-classified into different types presenting to the Eye Clinic at The Children’s Hospital depending on the number of joints affected, the rheumatoid Westmead with JIA over a twelve-month period between factor and whether other systemic conditions are present. 2009 and 2010 was performed. This paper emphasises the JIA can be associated with uveitis, a serious and chronic need for ophthalmology review in this cohort of children. ocular complication which is often difficult to manage Keywords: juvenile idiopathic arthritis, uveitis, paediatric and can result in visual loss. The risk of development of

INTRODUCTION spondyloarthropathy) is a chronic arthritis associated with enthesitis, or with lower axial skeletal involvement. uvenile idiopathic arthritis (JIA) is defined as • Psoriatic arthritis is a chronic arthritis usually with idiopathic arthritis of greater than six weeks asymmetrical involvement of small and large joints and duration with onset before sixteen years of age. It is evidence of or a psoriatic diathesis. a chronic inflammatory joint disease and is the most Jcommon rheumatic disease in children and adolescents. • Undifferentiated arthritis which is arthritis that fulfils The incidence of JIA is 10 in 100,000 children worldwide.1 criteria in no category or in two or more categories. In Australia at least 5,000 children are affected by JIA at The presence of antinuclear antibodies (ANA) is common in 2 any one time with an incidence of between 1 and 4 cases inflammatory disease and is detected on a blood sample. JIA 3 per 1,000 children. The cause of JIA is currently unknown. may be diagnosed with or without detection of an increased The International League of Associations for Rheumatology level of ANA (ANA positive or negative respectively). (ILAR) sub-classifies JIA into different categories depending Symptoms of JIA include swelling of the affected joints, on the number of joints involved and associated systemic commonly the knee, ankle and wrist, along with pain, conditions. joint stiffness and possible joint contracture and joint • Persistent or extended oligoarticular arthritis is the most damage. Extra-articular features are common, such as common type of JIA and is defined by the involvement of up fever, rash, pleuritis, pericarditis, lymphadenopathy and to four joints at the onset of the disease. hepatosplenomegaly. Ocular inflammation and uveitis are the most common extra-articular manifestations. Uveitis • Rheumatoid factor positive and rheumatoid factor negative occurs when inflammation arising from the , ciliary polyarthritis occurs when five or more joints are affected. body or is present. It is a serious and chronic • Systemic arthritis is a chronic arthritis, associated with condition which is often difficult to manage and can result systemic features. in severe visual loss and other ocular complications such as glaucoma, cataract, hypotony, cystoid macula oedema, band • Enthesitis-related arthritis (previously known as juvenile keratopathy, and amblyopia.4 Correspondence: Katie Geering Orthoptic Department, The Children’s Hospital at Westmead, The incidence of JIA-related uveitis is 1 in 100,000 Locked Bag 4001, Westmead, NSW 2145, Australia worldwide and it accounts for 80% of all childhood uveitis.5 Email: [email protected]

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The severity of uveitis in children with JIA is vast. The risk Table 1. Characteristics of children with juvenile idiopathic arthritis factors for developing uveitis include an early diagnosis of All JIA Patients with Patients with JIA JIA, female, oligoarticular form and ANA positive. Children patients JIA and uveitis without uveitis developing arthritis below the age of three years are at risk (N = 57) (N = 20) (N = 37) for up to seven years. Children who develop arthritis after Patients, % 100 35.7 64.3 1 the age of six are at risk for up to three years. Chronic Female 37 (64.9) 8 (40) 29 (78.4) anterior uveitis is most commonly associated with JIA. Number (%) {% of all female {21.6} {78.4} Approximately 20% to 30% of children with JIA and uveitis patients} will have their vision significantly affected.6 Age at diagnosis 3.9 (1-13) 4.7 (1-13) 3.5 (1-10) Clinically, the ocular signs and symptoms associated with of JIA (years) Mean (range) JIA-related uveitis can include redness, pain, blurring of Age at diagnosis 5 (3-13) N/A vision, and . It is important to mention that of uveitis (years) although redness can be a clinical feature of uveitis, the eye Mean (range) is often white, with no obvious sign of inflammation. Some ANA positive* 39 (68) 18 (90) 21 (57) children with mild disease can be asymptomatic. Uveitis Number (%) can at times be the first sign of JIA.5 * Five patients did not have an ANA analysis available The severity of the uveitis present and treatment methods Oligoarticular JIA was the most prevalent subtype, being used will determine the risk of developing other ocular identified in 30 patients (53%). Polyarticular JIA was present complications. The use of topical and systemic in seven patients (12%), systemic JIA in four patients (7%) in the management of this disease can induce adverse ocular and one patient reviewed had psoriatic JIA (2%). Fifteen effects such as cataract and glaucoma. Surgical intervention patients (26%) were identified as having undifferentiated is often necessary in these cases. These factors determine arthritis or nonspecific JIA, and no patients reviewed were the visual prognosis of the patient, which is often poor and diagnosed with enthesitis-related arthritis (Figure 1). can result in irreversible blindness. Children diagnosed with JIA will require regular rheumatology reviews and ophthalmology screening. If uveitis associated with JIA is detected, the frequency of ophthalmology reviews will increase and may be as regular as fortnightly for a duration of years.

METHODS

A retrospective analysis of the medical records of patients with a diagnosis of JIA, seen in the eye clinic at The Children’s Hospital at Westmead over a twelve-month Figure 1. The distribution of the sub-classifications of JIA (N = 57). period, between June 2009 and June 2010 was performed. Ethical approval was obtained for this study. A positive ANA factor was prevalent across the group. The data retrieved from medical records included age, gender, Thirty-nine patients (68%) were identified as ANA positive presenting symptoms, diagnosis and sub-classification of and 18 patients (32%) ANA negative. The age of patients JIA, age at onset of JIA, presence of antinuclear antibodies, at onset of JIA ranged from 12 months to 13 years with presence and classification of uveitis, age at onset of uveitis, a mean of 47 months (SD ±32.06), showing no apparent secondary ocular complications and final visual acuity. pattern in the age of diagnosis (Figure 2). Children presenting with uveitis without a diagnosis of JIA were excluded from the study.

RESULTS

A total of 57 patient files were included in the study, with the characteristics presented in Table 1. JIA was more prevalent in females than males with 65% of patients reviewed being female. Figure 2. The age of patients at the time of diagnosis of JIA (N = 57).

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Table 1. Characteristics of children with juvenile idiopathic arthritis The presence of uveitis was reviewed. Twenty patients (36%) had uveitis, while 37 patients (64%) had not developed All JIA Patients with Patients with JIA patients JIA and uveitis without uveitis uveitis at the time of the review. Bilateral uveitis was most (N = 57) (N = 20) (N = 37) prevalent and identified in 85% (n = 17) of patients while Patients, % 100 35.7 64.3 only 15% (n = 3) had unilateral disease. The age of onset of Female 37 (64.9) 8 (40) 29 (78.4) uveitis ranged from 3 years to 13 years with a mean of 65 Number (%) months (SD ±27.39). Fifteen patients (75%) had an onset {% of all female {21.6} {78.4} patients} of uveitis before 7 years of age. Two patients reviewed with uveitis did not have an age of onset documented (Figure 3, Age at diagnosis 3.9 (1-13) 4.7 (1-13) 3.5 (1-10) of JIA (years) Table 1). Mean (range) Age at diagnosis 5 (3-13) N/A of uveitis (years) Mean (range) Figure 4. The distribution of the initial presenting symptoms of uveitis (N ANA positive* 39 (68) 18 (90) 21 (57) = 20). Number (%) * Five patients did not have an ANA analysis available Visual outcome in patients with JIA and uveitis ranged from 6/4.5 to no light perception. Of the 37 with uveitis 62% Oligoarticular JIA was the most prevalent subtype, being (n = 23) had visual acuity of 6/9.5 or better, 11% (n = 4) identified in 30 patients (53%). Polyarticular JIA was present had visual acuity of 6/12 to 6/18, 11% (n = 4) had visual in seven patients (12%), systemic JIA in four patients (7%) acuity of 6/18 to 6/60 and 16% (n = 6) had visual acuity worse than 6/60. and one patient reviewed had psoriatic JIA (2%). Fifteen Figure 3. The age of patients at the time of diagnosis of uveitis (N = 18). patients (26%) were identified as having undifferentiated Associated ocular complications in these patients were arthritis or nonspecific JIA, and no patients reviewed were The type of uveitis present was reviewed. Anterior uveitis diverse. Commonly, glaucoma (60%, n = 12) and cataracts diagnosed with enthesitis-related arthritis (Figure 1). was most common, and was detected in 18 patients (90%) (40%, n = 8) were identified. Other complications identified and panuveitis was identified in two patients (10%). No in the group were (15%, n = 3), and cases of were identified. anterior or posterior synechiae (15%, n = 3). 50% (n = Patients with oligoarticular JIA had a high incidence of ANA 10) of these patients with ocular complications required positivity (76%, n = 23) and uveitis was present in 23% surgical intervention. (n = 7). Unclassified JIA also had a high incidence of ANA Of the patients reviewed, six had a diagnosis of uveitis positivity at 60% (n = 9) and uveitis at 67% (n = 10) (Table that preceded a diagnosis of JIA. For these patients, the 2). visual outcome was poorer than those initially diagnosed with JIA who then went on to develop associated uveitis. Two of patients initially diagnosed with uveitis had a final Table 2. Relationship of ANA factor and uveitis to type of JIA visual acuity of no light perception in at least one eye, one JIA sub- Number of ANA positive Patients with had 6/18 or worse vision and three had a visual acuity of classification patients N (%) uveitis 6/9.5 or better. Five had an associated ocular complication, N (%) which included glaucoma (n = 4), cataract (n = 3), posterior A positive ANA factor was prevalent across the group. All subgroups 57 39 (68.4) 20 (35.1) or anterior synechiae (n = 2), and band keratopathy (n Thirty-nine patients (68%) were identified as ANA positive Oligoarticular 30 23 (76.7) 7 (23.3) = 1). Surgical intervention was required in four patients and 18 patients (32%) ANA negative. The age of patients Polyarthritis 7 3 (42.9) 1 (14.2) with associated ocular complications required surgical at onset of JIA ranged from 12 months to 13 years with Systemic 4 1 (25.0) 2 (50) intervention. a mean of 47 months (SD ±32.06), showing no apparent Psoriatic 1 1 (100) 0 pattern in the age of diagnosis (Figure 2). Enthesitis-related 0 0 0 DISCUSSION Unclassified 15 9 (60.0) 10 (66.7) Early presence of uveitis in JIA is an important prognostic The initial symptoms of uveitis varied across the group. factor associated with adverse visual outcomes.7 Early Interestingly, eight patients (40%) were asymptomatic. detection and treatment of uveitis is mandatory in enabling Ocular symptoms included red eyes 35% (n = 7), the best possible visual outcome for these patients. Regular photophobia 15% (n = 3) and reduced vision 5% (n = 1). follow-up and review for the duration of their childhood, In one patient the initial symptoms were not documented and sometimes into the adult years, is required due to the as this patient had been transferred from another eye care chronic nature of the condition. While not all children with centre (Figure 4). uveitis will go on to develop JIA, it is important that it is investigated throughout the course of the disease.

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Uveitis can be the initial presentation of JIA. Children with CONCLUSION signs of uveitis preceding signs of arthritis may have a poorer visual outcome.8 Patients reviewed in this study with Juvenile idiopathic arthritis is a serious and chronic a diagnosis of uveitis prior to a diagnosis of JIA showed a condition that has a known association with uveitis. It is poorer visual outcome and majority of these patients had more common in females than males. The type of sub- an associated ocular complication, such as glaucoma or classification of JIA and the ANA factor determine the risk of cataract. A poorer visual outcome in these patients may development of uveitis with oligoarticular and unclassified be a result of later presentation to an ophthalmologist, and subgroups with ANA positivity being the highest risk factor. therefore further progression of the disease. Uveitis is an ocular condition that can be difficult to manage Symptoms of uveitis may be nonspecific, such as intermittent and results in visual loss and other ocular complications red eyes, and reduced vision. Some children may such as glaucoma and cataract, which often require even be asymptomatic. Interestingly, in this study 40% of surgical intervention. Visual prognosis in children with patients reviewed were asymptomatic. It is imperative that JIA is influenced by the age at which uveitis is detected. all children with idiopathic uveitis are screened for JIA and Children with a diagnosis of uveitis preceding a diagnosis early treatment is commenced to achieve the best visual of JIA have a poorer visual outcome. outcome. All children who are diagnosed with JIA will require a full The type of subclassification of JIA and the ANA factor ophthalmology screening as well as regular eye reviews. determine the risk of development of uveitis. Oligoarticular Similarly, all children who present with uveitis will require and unclassified JIA with an ANA positive factor are at high a full rheumatology assessment as uveitis may be the first risk for the development of uveitis. In this study 23% of sign of juvenile idiopathic arthritis. patients with oligoarticular JIA were ANA positive and had a diagnosis of uveitis, and 67% of patients with unclassified JIA were ANA positive and had a diagnosis of uveitis. REFERENCES

The exact visual prognosis of children with JIA is not 1. Edelsten C. Uveitis. In: Taylor D, Hoyt CS, editors. Pediatric known. Rates of ranging from 6% to 25% Ophthalmology and Strabismus. 3rd Ed. Edinburgh: Elsevier; 2005. have been published for JIA-associated uveitis.9,10 In this p. 408-422. study visual acuity ranged from 6/4.5 to no light perception. 2. Manners PJ. State of the art: juvenile idiopathic arthritis. APLAR This emphasises the importance of regular eye reviews for Journal of Rheumatology 2002;5(1):29-34. patients with JIA and the significance of comorbidity in 3. Manners PJ, Diepeveen DA. Prevalence of juvenile chronic arthritis in a population of 12-year-old children in urban Australia. Pediatrics children with JIA. All patients included in this study required 1996;98(1):84-90. frequent ophthalmic review over the twelve-month period. 4. Saurenmann RK, Levin AV, Feldman BM, et al. Prevalence, risk factors Review periods included fortnightly, monthly, three-monthly, and outcome of uveitis in juvenile idiopathic arthritis: a long-term six-monthly and yearly. The frequency of review depended followup study. Arthritis Rheum 2007;56(2):647-657. upon the type of JIA, level of uveitis and current ocular 5. Foster CS. Diagnosis and treatment of juvenile idiopathic arthritis- associations and varied for patients throughout the course associated uveitis. Curr Opin Ophthalmol 2003;14(6):395-398. of their disease. The Royal College of Ophthalmologists and 6. deBoer J, Wulffraat N, Rothova A. Visual loss in uveitis of childhood. the British Paediatric Association have compiled a summary Br J Ophthalmol 2003;87(7:879-884. of recommendations regarding the frequency of eye review 7. Chia A, Lee V, Graham EM, Edelsten C. Factors related to severe uveitis at diagnosis in children with juvenile idiopathic arthritis in a for these patients. The recommended schedule ranges from screening program. Am J Ophthalmol 2003;135(6):757-762. three to twelve months depending on whether the patient 8. Cabral DA, Petty RE, Malleson PN, et al. Visual prognosis in 11 is considered high or low risk. children with chronic anterior uveitis and arthritis. J Rheumatol 1994;21(12):2370-2375. The disease course of JIA is prolonged and can continue 9. Dana, MR, Merayo-Lloves J, Schaumberg DA, Foster CS. Visual into adulthood. Although JIA becomes less inflammatory outcomes prognosticators in juvenile -associated with age, it has been reported that up to 50% of adults uveitis. Ophthalmology 1997;104(2):236-244. who suffered JIA in childhood will continue to experience 10. Edelsten C, Lee V, Bentley CR, et al. An evaluation of baseline risk the effects of the disease, such as joint deformity, growth factors predicting severity in juvenile idiopathic arthritis associated abnormalities, osteoporosis, pain and difficulties with daily uveitis and other chronic anterior uveitis in early childhood. Br J Ophthalmol 2002;86(1):51-56. living.12 They may also suffer a visual impairment as a result 11. Denniston AK, Murray PI. Oxford Handbook of Ophthalmology. of uveitis, or the secondary complications of cataract and Oxford: Oxford University Press; 2006. p. 332. glaucoma. The transition from paediatric health services to 12. Packham J, Hall M. Long-term follow-up of 246 adults with juvenile appropriate adult health services must be considered for idiopathic arthritis: functional outcome. Rheumatology (Oxford) these patients. 2002;41(12):1428-1435.

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Ocular Myositis: A Case Study

Melanie Lai, BAppSc(Orth)Hons

Orthoptic Department, Prince of Wales Hospital, Sydney, Australia

ABSTRACT other ocular conditions that can cause extraocular muscle restrictions. Orbital myositis is an uncommon inflammatory condition Keywords: orbital myositis, extraocular muscles, resulting in variable degrees of restriction of the extraocular inflammation, restriction, muscles. A case of a 15-year-old girl is presented, highlighting the importance of differential diagnosis from

INTRODUCTION systemic conditions (sarcoidosis and Crohn’s disease) and the development of ocular myositis.5,6 cular myositis is an idiopathic inflammatory This paper will present a case study of a 15-year-old girl condition in which orbital inflammation is diagnosed with chronic orbital myositis. confined to the extraocular muscles and occurs in the absence of inflammation of other orbital Oor peri-orbital tissues.1,2 It is classified as one of the patterns CASE REPORT of clinical presentation of orbital pseudotumour, a condition distinguished by inflammation of any orbital soft tissue, In January 2010 a 15-year-old girl, Miss J, attended the 3 including orbital fat, lacrimal gland and connective tissue. Sydney Children’s Hospital eye clinic following a three- The condition is characterised by an acute onset of orbital week history of variable right and diplopia on down pain, often exacerbated by eye movement, diplopia, gaze. These symptoms were accompanied by a right-sided proptosis, duction restrictions, ptosis and conjunctival temporal and pain behind her right eye that had injection. Visual acuity and optic nerve function remain intact been present for the previous three months, with minimum in the presence of the extraocular muscle inflammation.4,5 relief from paracetamol. Cases of ocular myositis may be acute or chronic in Miss J had a history of similar symptoms with the exception presentation. Acute or isolated cases of ocular myositis of diplopia on two previous occasions. These episodes are those that present with a recent onset of symptoms, were investigated by an ophthalmologist and paediatrician normally less than two weeks, including pain and/ respectively and no abnormality found on examination or or diplopia. The more chronic cases of orbital myositis on her computed tomography (CT) or medical resonance include episodes that continue for a period of more than imaging (MRI) scans. two months, or recurrent acute episodes which can lead Interestingly, there was a strong family history of conditions to long term extraocular muscle restriction. Atypical cases affecting the extraocular muscles. Miss J’s maternal aunt 6 of orbital myositis have also been reported. These cases was diagnosed with myasthenia gravis and four male include those with uncharacteristic presentations including members of her family (both immediate and extended) were lack of pain or optic nerve dysfunction. diagnosed with ocular myositis. The cause of ocular myositis at this stage is unknown but On initial observation Miss J displayed a right partial ptosis, it is hypothesised that an immune-mediated process may which was confirmed by measurement of the palpebral be involved following reports of associations between aperture with the right being 7 mm and the left being 14 mm. Her visual acuity without glasses was right 6/6 Correspondence: Melanie Lai Orthoptic Department, Prince of Wales Hospital and left 6/5. On at 6 metres she demonstrated Level 4 High Street, Randwick, NSW 2031, Australia orthophoria. Cover test at 1/3 metre revealed a small Email: [email protected]

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with an accommodative target. Cover test at conditions.6 Careful investigation of clinical characteristics 1/3 metre repeated with a non-accommodative target (a is necessary for correct differential diagnosis to be made. torch) showed decompensation of the latent deviation to Modern ultrasound and radiological techniques, allow the a small right with a small right . On differential diagnosis of enlargement of the extraocular measurement, this deviation was neutralised with 4 prism muscles to be promptly narrowed to ocular myositis and dioptres base-in with the vertical measurement varying thyroid orbitopathy. between 14 and 18 prism dioptres base-down, fixing left, Thyroid orbitopathy is reported as the most common cause restoring binocularity. Binocularity was tested using the of enlargement of the extraocular muscles.5 For cases Lang Stereotest, on which Miss J demonstrated a positive of non-thryoid-related extraocular muscle enlargement, response achieving 550 seconds of arc. inflammation (classified as idiopathic orbital inflammatory On testing ocular movements, there was marked restriction disease or orbital pseudotumour) has been reported as of movement of the right eye in most positions of gaze. There one of the most common causes of extraocular muscle were -4 underactions of the right superior rectus, inferior enlargement,5,6,7 followed by vascular and neoplastic rectus and superior oblique. There were -3 underactions of causes.6,7 the right inferior oblique and a mild underaction of the right The presenting signs and symptoms of thyroid medial rectus of -1. and ocular myositis differ despite both having characteristic The patient was referred to the immunology and neurology enlargement of the extraocular muscles. Patients with departments for multidisciplinary review. All investigations thyroid orbitopathy often present with a gradual onset of by immunology and neurology departments were found to bilateral problems, often asymmetric, including dry eye, be unremarkable. She was also sent for CT of the orbits irritation, proptosis, and diplopia. Patients with ocular and CT angiogram to rule out possible cerebral aneurysm. myositis will present with a more acute onset of symptoms, CT of the orbits revealed marked enlargement of the right often unilateral, including pain on or exacerbated by eye superior and medial rectus muscles with involvement of the movement, swelling and diplopia. Characteristically, in myotendinous junctions. ocular myositis inflammation is isolated to extraocular muscles, whilst in thyroid orbitopathy a characteristic Miss J was treated promptly with a high dose of oral increase in orbital fat, causing , occurs in prednisone, with 50 mg for three days, tapered to 25 mg conjunction with enlarged extraocular muscles. for a further three days. A week after high-dose steroid treatment saw an improvement in the patient’s signs and Diagnostic imaging (computed tomography) allows for symptoms, with almost complete resolution of diplopia differentiation between the two conditions as there is and minimal extraocular muscle restriction remaining two a distinct difference in the pattern of extraocular muscle months later. enlargement and muscle involvement. In thyroid orbitopathy, bilateral asymmetric multiple muscle involvement is Over the following year, the patient’s condition improved observed with regular muscle enlargement confined to the but did not completely resolve. She had two episodes of muscle belly, sparing the tendinous insertions. The inferior relapse in which there was deterioration and changes in rectus is the muscle most frequently involved, followed the affected extraocular muscles. Following each episode, by the medial, superior and lateral recti muscles.2,7 In maximum improvement in signs and symptoms occurred contrast, the most common presentation of ocular myositis three to four weeks after commencing treatment. Each is unilateral with only a single muscle affected.6 Ocular recurrence of ocular myositis coincided with reductions in myositis can also present with multiple muscle involvement the patient’s steroid dosage below 5 mg. As a result of the and it has been suggested that multiple muscle involvement patient’s condition deteriorating with reductions in steroid at initial presentation may be a risk factor for recurrent dose, she has remained on a constant low-dose of steroids episodes or chronic cases of the condition.6 The horizontal since initial onset of her condition, with increases in dosage recti muscles tend to be most commonly involved in when she has a replapse episode. Due to the long-term cases of ocular myositis,2,4 with vertical recti muscles and use of steroids the patient commenced treatment with obliques less commonly involved.2,8,9 Miss J’s case of chronic methotrexate (a steroid-sparing agent) to help reduce the ocular myositis which initially presented with unilateral side effects of long-term steroid use. enlargement of the medial rectus and superior rectus of the right eye, agrees with the literature in demonstrating cases DISCUSSION of ocular myositis that initially present with multiple muscle involvement can be associated with recurrent episodes or Ocular myositis is a distinct clinical entity however chronic ocular myositis. extraocular muscle enlargement is a clinical feature also Diagnostic imaging performed on Miss J also revealed seen in other conditions including thryoid orbitopathy, inflammation of the myotendinous junction in addition to carotid cavernous fistulas, metastases and infiltrative enlargement of the extraocular muscles. The pattern of

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muscle enlargement in ocular myositis seen on imaging REFERENCES tends to be irregular often with inflammation of the tendinous insertion on the . Although the ‘tendon sign’ 1. Rootman JR, Nugent R. The classification and management of acute has been identified as a reliable indicator of ocular myositis, orbital pseudotumours. Ophthalmology 1982;89(9):1040-1048. with 40-53% of cases by Mannor et al,4 and 70% of cases by 2. Zulfiqar A, Abdul-Samad S, Alias D, Norizan A. Computer tomography (CT) of orbital pseudotumour. Med J Malaysia 1993;48(2):160-165. Zulfiqar et al2 reporting tendon involvement, an absence of 3. Slavin ML, Glaser JS. Idiopathic orbital myositis: report of six cases. tendon involvement does not disclude a diagnosis of ocular Arch Ophthalmol 1982;100(8):1261-1265. myositis. 4. Mannor GE, Rose GE, Moseley IF, Wright JE. Outcome of orbital A pathognomonic sign indicative of ocular myositis is a myositis. Clinical features associated with recurrence. Ophthalmology 1997;104(3):409-413. rapid and dramatic improvement in signs and symptoms 5. Patrinely JR, Osborn AG, Anderson RL, Whiting AS. Computer once treatment has commenced with high doses of systemic tomographic features of nonthyroid extraocular muscle enlargement. corticosteroids.4,6,10 The most notable improvement in Ophthalmology 1989;96(7):1038-1047. 1,9,10 symptoms occurs within a period of 3 to 5 days, after 6. Lacey B, Chang W, Rootman J. Nonthyroid causes of extraocular which the high steroid dosage is tapered. Similar to Miss J, muscle disease. Surv Ophthalmol 1999;44(3):187-213. the majority of patients experience a complete resolution 7. Trokel ST, Hilal SK. Recognition and differential diagnosis of enlarged of signs and symptoms approximately one month following extraocular muscles in computed tomography. Am J Ophthalmol initial onset. However, as seen in our case study, tapering the 1979;87(4):503-512. dosage of systemic steroids has been reported to coincide 8. Tychsen L, Tse DT, Ossoinig K, Anderson RL. with superior oblique myositis. Ophthalmology 1984;91(9):1075-1079. with recurrent episodes of myositis.10 Long-term systemic 9. Wan WL, Cano MR, Green RL. Orbital myositis involving the oblique steroid use in some patients becomes intolerable and other muscles: an echographic study. Ophthalmology 1988;95(11):1522- treatment options require consideration. These include 1528. treatment with steroid-sparing agents (or adjuvant drugs) 10. Bullen CL, Younge BR. Chronic orbital myositis. Arch Ophthalmol such as methotrexate,6 which was used as an adjunctive 1982;100(11):1749-1751. therapy for Miss J due to her long-term steroid use, or more 11. Orcutt JC, Garner A, Henk JM, Wright JE. Treatment of idiopathic radical treatment with radiation therapy.3,11 It has also been inflammatory orbital pseudotumours by radiotherapy. Br J Ophthalmol 1983;67(9):570-574. reported that initial stages of treatment with non-steroidal 12. Maurer I, Zierz S. Recurrent orbital myositis: report of a familial anti-inflammatory drugs is also an option, however this incidence. Arch Neurol 1999;56(11):1407-1409. treatment option tends to lend itself to patients with a non- recurrent or acute ocular myositis.4 Although it is suggested that ocular myositis is an immune- mediated process, familial influence on the development of this condition may also be important to consider. Our patient reported four of her male family members had been diagnosed with ocular myositis. At this stage, it seems only one other study has reported a family with multiple members demonstrating symptoms suggestive of ocular myositis.12 Therefore it could be hypothesised that genetic predisposition may play a part in the development of the ocular myositis. However, it is important to consider equally that other events may influence the expression of the condition even in the presence of genetically predisposing factors.12

CONCLUSION

Ocular myositis is characterised by enlargement of extraocular muscles visible on medical imaging and rapid improvement of symptoms following treatment with high dose systemic corticosteroids. Although it is a distinct clinical entity, thorough clinical investigation is required for this condition to be differentially diagnosed from other causes of enlarged extraocular muscles including thyroid eye disease, vascular disorders and neoplastic disease.

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A Case Study: Management Options for a Patient with Congenital Fibrosis of the Extraocular Muscles

Frances Vogrin, BOrth&OphthSc1 Kailin Karen Zhang, BOrth&OphthSc(Hons)2

1Department of Clinical Vision Sciences, La Trobe University, Melbourne, Australia 2Orthoptic Department, Singapore National Eye Centre, Singapore

ABSTRACT presented. His mother and older brother also exhibited similar clinical signs, thereby suggesting a familial pattern. Congenital fibrosis of the extraocular muscles is a relatively Surgical management is discussed in light of the patient’s static congenital disorder leading to restrictive extraocular presentation.. movements. The need for early intervention is vital to Keywords: congenital fibrosis of the extraocular alleviate the development of an abnormal head posture muscles (CFEOM), bilateral ptosis, congenital and to lower the risk of amblyopia. A case of an 18-year- external ophthalmoplegia, rotary nystagmus old male with congenital fibrosis, bilateral blepharoptosis, chin-up head posture, and external ophthalmoplegia is

INTRODUCTION As the characteristics of the various forms of CFEOM may overlap, CFEOM is now categorised under three clinical ongenital fibrosis of the extraocular muscles phenotypes (Table 2).3-4,7-9,12-14 The most common form of (CFEOM) is a rare non-progressive disorder CFEOM is CFEOM1, with a 1/230,000 prevalence rate in characterised by ophthalmoplegia, bilateral the Western world.3-4,14-15 CFEOM1 and CFEOM3 have been blepharoptosis, abnormal head posture (AHP) reported worldwide, however CFEOM2 has only been noted Cand possible amblyopia.1-9 CFEOM is broadly known as one in people of Middle Eastern and Turkish descent.3,14-16 of the congenital cranial dysinnervation disorders (CCDDs) These genetic changes lead to an absence of the oculomotor due to its orbital innervational defects.3,6,8,10 Muscle and/or trochlear nucleus in the brainstem, agenesis of the restriction is variable depending on the isolation or spread superior division of the oculomotor nerve and motor neurons of fibrosis amongst healthy contractile muscle tissue. Earlier in the brainstem, a decrease in large motor axons and/or literature reported five clinical sub-classifications of CFEOM abnormal motor neurons, all of which result in atrophy and depending on the extent of fibrosis (Table 1).11 fibrosis of the extraocular muscles predominantly innervated by the oculomotor and trochlear nerves.3-6,12-14,16-18

Table 1. The five clinical sub-classifications of CFEOM2,11 General fibrosis syndrome Most severe form affecting all muscles bilaterally. (autosomal dominant > autosomal recessive > idiopathic) Most severely the inferior recti and the levator palpebrae superioris.

Congenital fibrosis of inferior rectus with blepharoptosis Only the inferior rectus is affected. Mostly unilateral rather than bilateral. (sporadic or familial) Ptosis, and unilateral fibrosis. Considered non-familial.

Strabismus fixus Affects bilateral horizontal recti. Lateral rectus affected less than the medial rectus. (sporadic) Results in severe .

Vertical retraction syndrome Bilateral vertical muscle restriction of superior and inferior recti. Most severely the superior recti, causing restriction of downgaze.

Congenital unilateral fibrosis with blepharoptosis and All muscles are affected unilaterally, causing ptosis and enophthalmos. enophthalmos (sporadic)

The levator palpebrae superioris and superior rectus Correspondence: Frances Vogrin muscles are particularly affected by atrophy due to agenesis Department of Clinical Vision Sciences, La Trobe University, VIC 3086, Australia of the superior division of the oculomotor nerve, thereby Email: [email protected] causing bilateral ptosis and hypotropia.3,5-6,12,13,16,18

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Table 2. The three clinical phenotypes of CFEOM2-4,6,10,12-16 improvement was achievable with pinhole. Auto-refraction was performed (RE +1.50/-4.25x20°, LE unable to take CFEOM1 Autosomal Dominant; related to gene KIF21A/12q11-q12 of chromosome 12cen. measurement), but a retinoscopy was not performed as a manifest refraction taken from auto-refraction results CFEOM2 Autosomal recessive; related to gene PHOX2A/ ARIX 11q13.2 of chromosome 11. could not improve VA. Near VA however was good at N5, when tested using the Moorfield’s Bar Reading Book. The CFEOM3 Classic CFEOM3; related to gene Ishihara test revealed no colour vision defect, and 16q24.2-q24.3/TUBB3 of chromosome 16. were equally reactive to light. Fundal examination appeared Subtypes of CFEOM3; related to gene normal with no pathological changes. Stereoacuity was also KIF21A/12q11-q12 of chromosome 12cen. assessed, but no stereopsis was demonstratable, using the near Frisby real-depth and distance Mentor BVAT contour- line stereotests. CASE REPORT

An 18-year-old male presented to clinic for a pre-military DISCUSSION ocular assessment, with signs of CFEOM. He had bilateral CFEOM is a disease which truly debilitates the functionality blepharoptosis (R>L), restrictive external ophthalmoplegia of the eyes. Therefore, the need for appropriate management with the eyes fixed in infraduction, and a chin-up AHP at an early age is vital, in order to minimise the AHP and to markedly increased at distance. Bilateral eye movement lower the risk of developing amblyopia.3,5,7,9 Interventions restrictions with hypoglobus were similarly exhibited in his include surgical correction of the blepharoptosis and mother and older brother. In addition, he had fine manifest strabismus for cosmesis, as well as correction of any rotary nystagmus, with no history of surgery undertaken in refractive error using glasses, due to the likely presence the past and no associated learning barriers. of significant astigmatism and amblyopia.3-4,6,8,16,20 Early As he was unable to alternate fixation without moving his detection of amblyopia should be treated aggressively4 head, due to the restrictive ophthalmoplegia, the Krimsky through occlusion therapy for best visual outcome.20-21 test was performed instead of the prism cover test. This Although studies have shown the possible improvement of is because the Krimsky test relies on centring corneal VA in amblyopic eyes with compliant full-time occlusion in reflections with a prism, either the non-fixing or fixing eye, children aged 7 to 17 years old,21-22 our patient was not keen while the prism cover test relies on the ability of the eyes on occlusion, thus it was not prescribed. As his condition to alternate fixation; something that he cannot do due to was long-standing from early childhood, binocular functions the restrictive external ophthalmoplegia.19 The primary were absent and he did not suffer from diplopia due to Krimsky method cannot be used in this instance as it relies suppression. Surgical treatment would therefore result in a on placing the prism on the fixing eye and Hering’s Law, cosmetic, rather than functional outcome.5 while watching for the corneal reflections to centralise in Before surgery is undertaken, forced duction testing should the deviating eye. Therefore the secondary Krimsky method be performed to reveal the true extent of the extraocular was used, with the prism placed in front of the non-fixing muscle restrictions.8,14 Management should be individually left eye.19 The Krimsky test performed with AHP revealed a tailored due to the differing nature and extent of ocular right exotropia (RXT) of variable angle (approximately 20- fibrotic muscle involvement, which in turn, is dependent 30 prism dioptres), though appearing esotropic at times on the type of genetic loci involved.3,6-7 Any history of for near, and right hypertropia of 10 prism dioptres at both previous extraocular muscle surgery needs to be taken into near and distance. consideration because scarring can result from repeated Assessment of his ocular movements showed bilateral surgical procedures and this can affect the treatment superior recti restrictions of -5 resulting in an inability outcome.3,6 Surgery should be sequenced in order of to elevate the eyes. There were however, less bilateral vertical, horizontal and lastly, ptosis correction to reduce lid restrictions (-1) on downgaze/depression. The movement alteration from precedent strabismus surgery.3,7,11,14 restriction of the left eye on laevoversion was worse than All adhesions or fibrotic bands need to be removed from for the right, with the left lateral rectus not able to abduct the muscles before any surgical recessions and resections the eye past midline (-4) and the right medial rectus unable are performed.2,14 Maximal inferior rectus recessions are to adduct by -2. On dextroversion, the left medial rectus very popular for relief of AHP and hypotropia.3-4,7,11,14,20 was unable to adduct by -2½ and the right lateral rectus Superior rectus resections may also be performed, however was unable to abduct by -½. they are only used to enhance inferior rectus recessions His distance visual acuity (VA) tested on the Snellen if needed such as in cases of bilateral involvement.4,14 chart with his glasses (RE +1.50/-3.00x165°, LE +1.50/- Resections are usually avoided no matter the action of the 3.25x10°) was reduced: RE 6/21 and LE 6/45, and no muscle, as CFEOM is a CCDD and there is fear of creating

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or worsening the enophthalmos.8 If there is fibrotic superior absent.4,7,11,14,16,20 In some cases of moderate to severe lid rectus involvement, resection and transposition of the ptosis, a resection of the levator muscle by skin approach to the superior rectus insertion is rather than conjunctival may be preferred.3,7 In mild cases, an option.3,16,20 Inferior rectus recessions are preferred to levator resection is effective.4,7,14 It should be noted that tenotomies.11 A silicon plate can also be inserted on the ptosis surgery runs the risk of overcorrection, possibly orbital floor, which may improve the hypotropic deviation resulting in exposure corneal .6,8,14 Therefore, the in primary position, as well as ptosis and palpebral aim is to slightly under-correct the ptosis by placing the lid retractions.20 1 - 2 mm above the pupil in primary position, allowing the visual axis to remain clear and also possibly reducing the With associated horizontal deviations, very large recessions AHP.8,11,14 Lubricant eye drops may be given to those with a (often greater than 10 mm) are the preferred treatment higher risk of corneal exposure keratitis both preoperatively option, with only occasional resections performed alongside and postoperatively.14 stay sutures and bare sclera conjunctival closures.6,16 For exotropia, lateral rectus recessions are most popular surgically.4,7,11,20 They are only accompanied by medial rectus CONCLUSION resections if the recession did not have a significant enough impact.4 However, due to the variability of the horizontal CFEOM is a rare, non-progressive congenital disease, angle in this case, this may be problematic to correct.4,7 resulting in restrictions of movement of the eye/s, The accuracy of the strabismus angle measurement may blepharoptosis, AHP and possible amblyopia.2-3,5-7 be compromised by the use of the Krimsky test due to Therefore, early interventions such as surgery at a young the inability of the patient to maintain a repeatable and age is of great importance.2-3,5-7 Surgical aims include the consistent AHP, so care should be taken with the choice of achievement of improved lid positions, cosmetic or even surgical correction.23 The Krimsky test may therefore be functional adjustments of the eyes (depending on the repeated on future visits to eliminate any clinician errors length of presentation of the condition), and a reduction or such as placement, size of prism and Krimsky method elimination of AHP.11 Amblyopia management upon early used and to factor in any possible variability of AHP upon detection, should be carried out through refractive and testing.19 The presence of nystagmus could also have occlusive treatment regimes.20 The management options for affected the measurements due to the constant oscillation our patient may include inferior recti recessions to correct of the eyes.24 Although not typically a reported factor of the bilateral hypoglobus, lateral recti recessions to correct CFEOM, nystagmus alongside astigmatic and amblyopic the exotropia, and frontalis sling suspension to correct the symptoms may coincide with familial CFEOM, as well as bilateral blepharoptosis. However, as the patient is not some neurological diseases.4,7,9-11 concerned with the cosmesis of the strabismus and as the A sliding suture or hang-back method is another method longstanding AHP is not severe, he is reluctant to proceed that may be used to move the recti muscles as far back as with any surgical management at this stage. needed for alignment purposes.4 A traction suture is then used so that the globe maintains its position postoperatively.4 A conjunctival recession over any recessed muscles may ACKNOWLEDGEMENTS also be performed to enhance weakening.4,7 The combined correction of hypotropia and exotropia would be required to The authors wish to thank Linda Santamaria for all her achieve the best ocular alignment for our patient. help, time, encouragement and advice towards the article written. As many extraocular muscles are involved, the aim of the recessions is mainly to shift the eyes to a more appropriate position to relieve the AHP, rather than being effective REFERENCES in treating the extraocular muscle restrictions.2-3,11,14,25 Full ocular rotations are difficult to restore, usually with 1. Rootman JR, Nugent R. The classification and management of acute unpredictable outcomes.2-3,19,25 Subsequent surgeries may orbital pseudotumours. Ophthalmology 1982;89(9):1040-1048. therefore be required.3-4,7,11,20 If the AHP is not severe and 2. Zulfiqar A, Abdul-Samad S, Alias D, Norizan A. Computer tomography the patient is not concerned about cosmesis, surgery may (CT) of orbital pseudotumour. Med J Malaysia 1993;48(2):160-165. be deferred due to the unpredictability of the surgical 3. Slavin ML, Glaser JS. Idiopathic orbital myositis: report of six cases. outcome.2-3,8,20,25 This information should be provided to the Arch Ophthalmol 1982;100(8):1261-1265. patients and/or their parents preoperatively so that there 4. Mannor GE, Rose GE, Moseley IF, Wright JE. Outcome of orbital 3,8,11,14,20 myositis. Clinical features associated with recurrence. Ophthalmology are no unrealistic postoperative expectations. 1997;104(3):409-413. Treatment of blepharoptosis, may be corrected by 5. Patrinely JR, Osborn AG, Anderson RL, Whiting AS. Computer frontalis sling suspension and autologous fascia lata or tomographic features of nonthyroid extraocular muscle enlargement. Ophthalmology 1989;96(7):1038-1047. brow alongside inferior rectus surgery if levator action is

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6. Lacey B, Chang W, Rootman J. Nonthyroid causes of extraocular 16. Traboulsi EI. A Compendium of Inherited Disorders and the Eye. New muscle disease. Surv Ophthalmol 1999;44(3):187-213. York: Oxford University Press; 2006. 7. Trokel ST, Hilal SK. Recognition and differential diagnosis of enlarged 17. Bagheri A, Naghibozakerin J, Yazdani S. Management of congenital extraocular muscles in computed tomography. Am J Ophthalmol fibrosis of the inferior rectus muscle associated with high myopia: a 1979;87(4):503-512. case report. Strabismus 2007;15(3):157-163. 8. Tychsen L, Tse DT, Ossoinig K, Anderson RL. Trochleitis with superior 18. Kline LB, editor. 2008-2009 Basic and Clinical Science Course BCSC): oblique myositis. Ophthalmology 1984;91(9):1075-1079. Neuro-ophthalmology Section 5. San Francisco: American Academy 9. Wan WL, Cano MR, Green RL. Orbital myositis involving the oblique of Ophthalmology; 2008. muscles: an echographic study. Ophthalmology 1988;95(11):1522- 19. Rowe, FJ. Clinical Orthoptics. 3rd Ed. Oxford: Wiley-Blackwell; 2012. 1528. 20. Murillo-Correa CE, Jaimes M, Martin F, et al. Unilateral congenital 10. Bullen CL, Younge BR. Chronic orbital myositis. Arch Ophthalmol fibrosis of the extraocular muscles with lid retraction: surgical 1982;100(11):1749-1751. treatment with a silicon plate on the orbital floor. Strabismus 11. Orcutt JC, Garner A, Henk JM, Wright JE. Treatment of idiopathic 2011;19(1);12-16. inflammatory orbital pseudotumours by radiotherapy. Br J 21. Mohan K, Saroha V, Sharma A. Successful occlusion therapy for Ophthalmol 1983;67(9):570-574. amblyopia in 11- to 15-year-old children. J Paediatr Ophthalmol 12. Maurer I, Zierz S. Recurrent orbital myositis: report of a familial Strabismus 2004;41(2):89-95. incidence. Arch Neurol 1999;56(11):1407-1409. 22. Scheiman MM, Hertle RW, Beck RW, et al. Randomized trial of 13. Engle EC. The molecular basis of the congenital fibrosis syndromes. treatment of amblyopia in children aged 7 to 17 years. Arch Strabismus 2002;10(2):125-128. Ophthalmol 2005;123(4):437-447. 14. Yazdani A, Traboulsi EI. Classification and surgical management of 23. Romano PE. Hirschberg ratio variability and its correction. Invest patients with familial and sporadic forms of congenital fibrosis of the Ophthalmol Vis Sci 1999;40(9):2163-2164. extraocular muscles. Ophthalmology 2004;111(5):1035-1042. 24. Friedman NJ, Kaiser PK, Pineda R. The Massachusetts Eye and Ear 15. Genetics Home Reference. Congenital fibrosis of the extraocular Infirmary: Illustrated Manual of Ophthalmology. 3rd Ed. China: muscles; 2009 [updated 2011, cited 2011 15th Oct] Available Saunders Elsevier; 2009. from: http://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the- 25. Buckley EG, Plager DA, Repka MX, et al. Strabismus Surgery: Basic extraocular-muscles. and Advanced Strategies. Oxford: Oxford University Press; 2004.

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Named Lectures, Prizes and Awards of Orthoptics Australia

THE PATRICIA LANCE LECTURE

1988 Elaine Cornell Home exercises in orthoptic treatment 1989 Alison Pitt deficits in a group of young offenders 1990 Anne Fitzgerald Five years of tinted lenses for reading disability 1992 Carolyn Calcutt Untreated early onset esotropia in the visual adult 1993 Judy Seaber The next fifty years in orthoptics and ocular motility 1995 David Mackey The Glaucoma Inheritance Study in Tasmania (GIST) 1997 Robin Wilkinson Heredity and strabismus 1998 Pierre Elmurr The and sports perfomance 1999 Kerry Fitzmaurice Research: A journey of innovation or rediscovery? 2005 Kathryn Rose The Sydney Myopia Study: Implications for evidence based practice and public health 2006 Frank Martin Reading difficulties in children - evidence base in relation to aetiology and management 2008 Stephen Vale A vision for orthoptics: An outsider’s perspective 2009 Michael Coote An eye on the future 2010 John Crompton The pupil: More than the aperture of the iris diaphragm 2011 Neryla Jolly On being an orthoptist

THE EMMIE RUSSELL PRIZE

1957 Margaret Kirkland Aspects of vertical deviation 1959 Marion Carroll Monocular stimulation in the treatment of amblyopia exanopsia 1960 Ann Macfarlane A study of patients at the Children’s Hospital 1961 Ann Macfarlane A case history “V” Syndrome 1962 Adrienne Rona A survey of patients at the Far West Children’s Health Scheme, Manly 1963 Madeleine McNess Case history: Right convergent strabismus 1965 Margaret Doyle Diagnostic pleoptic methods and problems encountered 1966 Gwen Wood Miotics in practice 1967 Sandra Hudson Shaw Orthoptics in Genoa 1968 Leslie Stock Divergent squints with abnormal retinal correspondence 1969 Sandra Kelly The prognosis in the treatment of eccentric fixation 1970 Barbara Denison A summary of pleoptic treatment and results 1971 Elaine Cornell Paradoxical innervation 1972 Neryla Jolly Reading difficulties 1973 Shayne Brown Uses of fresnel prisms 1974 Francis Merrick The use of concave lenses in the management of intermittent divergent squint 1975 Vicki Elliott Orthoptics and cerebral palsy 1976 Shayne Brown The challenge of the present 1977 Melinda Binovec Orthoptic management of the cerebral palsied child 1978 Anne Pettigrew 1979 Susan Cort Nystagmus blocking syndrome 1980 Sandra Tait Foveal abnormalities in ametropic amblyopia 1981 Anne Fitzgerald Assessment of visual field anomalies using the visually evoked response 1982 Anne Fitzgerald Evidence of abnormal optic nerve fibre projection in patients with dissociated vertical deviation: A preliminary report 1983 Cathie Searle Acquired Brown’s syndrome: A case report Susan Horne Acquired Brown’s syndrome: A case report 1984 Helen Goodacre Minus overcorrection: Conservative treatment of intermittent exotropia in the young child 1985 Cathie Searle The newborn follow up clinic: A preliminary report of ocular anomalies 1988 Katrina Bourne Current concepts in restrictive eye movements: Duane’s retraction syndrome and Brown’s syndrome 1989 Lee Adams An update in genetics for the orthoptist: A brief review of gene mapping 1990 Michelle Gallaher Dynamic visual acuity versus static visual acuity: Compensatory effect of the VOR 1991 Robert Sparkes Retinal photographic grading: The orthoptic picture 1992 Rosa Cingiloglu Visual agnosia: An update on disorders of visual recognition 1993 Zoran Georgievski The effects of central and peripheral binocular visual field masking on fusional disparity

Aust Orthopt J 2012 Vol 44(1) © Orthoptics Australia AUSTRALIAN ORTHOPTIC JOURNAL 21

1994 Rebecca Duyshart Visual acuity: Area of retinal stimulation 1995-7 Not awarded 1998 Nathan Clunas Quantitative analysis of the inner nuclear layer in the of the common marmoset callithrix jacchus 1999 Anthony Sullivan The effects of age on saccades made to visual, auditory and tactile stimuli 2001 Monica Wright The complicated diagnosis of cortical vision impairment in children with multiple disabilities 2005 Lisa Jones Eye movement control during the visual scanning of objects 2006 Josie Leone The prognostic value of the cyclo-swap test in the treatment of amblyopia using atropine 2007 Thong Le What is the difference between the different types of divergence excess intermittent exotropia? 2008 Amanda French Does the wearing of glasses affect the pattern of activities of children with hyperopic refractive errors? 2009 Amanda French Wide variation in the prevalence of myopia in schools across Sydney: The Sydney Myopia Study 2010 Alannah Price Vertical interline spacing and word recognition using the peripheral retina 2011 Amanda French Comparison of the distribution of refraction and ocular biometry in European Caucasian children living in Northern Ireland and Sydney 2012 Melanie Cortes Treatment outcomes of children with vision impairment detected through the StEPS program

PAEDIATRIC ORTHOPTIC AWARD

1999 Valerie Tosswill Vision impairment in children 2000 Melinda Syminiuk Microtropia - a challenge to conventional treatment strategies 2001 Monica Wright The complicated diagnosis of cortical vision impairment in children with multiple disabilities 2005 Kate Brassington Amblyopia and reading difficulties 2006 Lindley Leonard Intermittent exotropia in children and the role of non-surgical therapies 2007 Jody Leone Prevalence of in Australian school children 2008 Jody Leone Can visual acuity screen for clinically significant refractive errors in teenagers? 2009 Jody Leone Visual acuity testability with the electronic visual acuity-tester compared with LogMAR in Australian pre-school children 2010 Fiona Gorski Neurofibromatosis and associated ocular manifestations 2011 Suzy King Understanding Sturge-Weber syndrome and the related ocular complications 2012 Jane Scheetz Accuracy of orthoptists in the diagnosis and management of triaged paediatric patients

THE MARY WESSON AWARD

1983 Diana Craig (Inaugural) 1986 Neryla Jolly 1989 Not awarded 1991 Kerry Fitzmaurice 1994 Margaret Doyle 1997 Not Awarded 2000 Heather Pettigrew 2004 Ann Macfarlane 2008 Julie Barbour 2010 Elaine Cornell 2011 Zoran Georgievski

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Presidents of Orthoptics Australia and Editors of The Australian Orthoptic Journal

PRESIDENTS OF ORTHOPTICS AUSTRALIA

1945-7 Emmie Russell 1964-5 Lucy Retalic 1981-82 Marion Rivers 1947-8 Lucy Willoughby 1965-6 Beverly Balfour 1982-3 Jill Stewart 1948-9 Diana Mann 1966-7 Helen Hawkeswood 1983-5 Neryla Jolly 1949-50 E D’Ombrain 1967-8 Patricia Dunlop 1985-6 Geraldine McConaghy 1950-1 Emmie Russell 1968-9 Diana Craig 1986-7 Alison Terrell 1951-2 R Gluckman 1969-70 Jess Kirby 1987-9 Margaret Doyle 1952-4 Patricia Lance 1970-1 Neryla Heard 1989-91 Leonie Collins 1954-5 Diana Mann 1971-2 Jill Taylor 1991-3 Anne Fitzgerald 1955-6 Jess Kirby 1972-3 Patricia Lance 1993-5 Barbara Walsh 1956-7 Mary Carter 1973-4 Jill Taylor 1995-7 Jan Wulff 1957-8 Lucille Retalic 1974-5 Patricia Lance 1997-00 Kerry Fitzmaurice 1958-9 Mary Peoples 1975-6 Megan Lewis 2000-2 Kerry Martin 1959-60 Patricia Lance 1976-7 Vivienne Gordon 2002-4 Val Tosswill 1960-1 Helen Hawkeswood 1977-8 Helen Hawkeswood 2004-6 Julie Barbour 1961-2 Jess Kirby 1978-9 Patricia Dunlop 2006-8 Heather Pettigrew 1962-3 Patricia Lance 1979-80 Mary Carter 2008-10 Zoran Georgievski 1963-4 Leonie Collins 1980-1 Keren Edwards 2010-11 Connie Koklanis

EDITORS OF THE AUSTRALIAN ORTHOPTIC JOURNAL

Vol 8 1966 Barbara Lewin & Ann Metcalfe Vol 22 1985 Margaret Doyle Vol 37 2003 Neryla Jolly & Vol 9 1969 Barbara Dennison & Vol 23 1986 Elaine Cornell Kathryn Thompson Neryla Heard Vol 24 1987 Elaine Cornell Vol 38 2004-05 Neryla Jolly & Vol 10 1970 Neryla Heard Vol 25 1989 Elaine Cornell Kathryn Thompson Vol 11 1971 Neryla Heard & Vol 26 1990 Elanie Cornell Vol 39 2007 Zoran Georgievski & Connie Koklanis Helen Hawkeswood Vol 27 1991 Julia Kelly Vol 40 2008 Connie Koklanis & Zoran Vol 12 1972 Helen Hawkeswood Vol 28 1992 Julia Kelly Vol 13 1973-74 Diana Craig Georgievski Vol 29 1993 Julia Kelly Vol 41 2009 Zoran Georgievski & Vol 14 1975 Diana Craig Vol 30 1994 Alison Pitt Connie Koklanis Vol 15 1977 Diana Craig Vol 31 1995 Julie Green Vol 42 2010 Connie Koklanis & Vol 16 1978 Diana Craig Vol 32 1996 Julie Green Zoran Georgievski Vol 17 1979-80 Diana Craig Vol 33 1997-98 Julie Green Vol 43 2011 Connie Koklanis Vol 18 1980-81 Diana Craig Vol 34 1999 Julie Green Vol 44 2012 Connie Koklanis & Vol 19 1982 Diana Craig Vol 35 2000 Neryla Jolly & Nathan Moss Linda Santamaria Vol 20 1983 Margaret Doyle Vol 36 2001-02 Neryla Jolly & Vol 21 1984 Margaret Doyle Kathryn Thompson

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Orthoptics Australia Office Bearers, State Branches & University Training Programs

ORTHOPTICS AUSTRALIA UNIVERSITY TRAINING PROGRAMS

ORTHOPTICS AUSTRALIA OFFICE BEARERS MELBOURNE

President: Connie Koklanis Department of Clinical Vision Sciences Vice President: Mara Giribaldi Faculty of Health Sciences President Elect: Connie Koklanis La Trobe University Treasurer: Karen Mill Bundoora, VIC 3086 Secretary: Mara Giribaldi T: 03 9479 5285 Public Officer:Jody Leone F: 03 9479 3692 www.latrobe.edu.au/courses/orthoptics

STATE REPRESENTATIVES SYDNEY Australian Capital Territory: Corinne Neasbey, New South Wales: Mara Giribaldi, Nhung Nguyen, Discipline of Orthoptics Jacqueline Rudman Faculty of Health Sciences Queensland: Paul Cawood, Keren Edwards, The University of Sydney Mathew McCarthy East St, Lidcombe, NSW 2141 South Australia: Hayley Neate T: 02 9351 9250 Tasmania: Julie Barbour F: 02 9351 9359 Victoria: Karen Mill, Meri Vukicevic, Tony Wu www.fhs.usyd.edu.au/orthoptics Western Australia: Amy Crosby

STATE BRANCHES

New South Wales: President: Nhung Nguyen Secretary: Jacqueline Rudman Treasurer: Lindley Leonard Queensland: Contact: Paul Cawood South Australia: Contact: Hayley Neate Tasmania: Contact: Julie Barbour Victoria: President: Tony Wu Secretary: Julie Morrison Treasurer: Suzane Vassallo Western Australia: President: Lisa Biggs Secretary: Sarah Ashurst Treasurer: Amy Crosby

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