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Ehlers-Danlos and the Eye 2018 BACKUP

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James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease LEARNING OBJECTIVES 1. Why doesn’t Ehlers-Danlos Syndrome(EDS) present more often with high myopia, keratoconus, and lacquer cracks in Bruch’s membrane? EHLERS-DANLOS SYNDROME 2. What are the most common presenting symptoms of EDS? 3. What are the most common clinical signs of EDS, including AND THE EYE subtle ones? 2018 VICTORIA CONFERENCE 4. How are these EDS problems best treated by the primary-care JAMES KUNDART OD MED FAAO FCOVD-A optometrist? PACIFIC UNIVERSITY COLLEGE OF OPTOMETRY FINANCIAL DISCLOSURE: NOTHING TO DISCLOSE http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504533/figure/F1/ CONNECTIVE TISSUE DISORDERS CONNECTIVE TISSUE DISORDERS AND OPTOMETRY IN PRIMARY EYE CARE • The eye and adnexa are both • Ehlers-Danlos Syndrome made of connective tissue, • Pseudoxanthoma Elasticum from lid tissue, sclera and cornea to the zonules and • Osteogenesis Imperfecta extra-ocular muscle tendons • Marfan Syndrome • Refractive error, binocularity, • Stickler Syndrome and eye disease are all impacted by connective tissue • Others https://www.pressrelease.com/news/ehl problems ers-danlos-society-receives- transformational-gift-for-119892 https://en.wikipedia.org/wik i/Angioid_streaks EHLERS-DANLOS SYNDROMES 2017 GENETIC CLASSIFICATION OF (EDS) EDS • Brittle Cornea Syndrome • • This connective tissue disorder Hypermobile • Classical-like com es in several types w ith slightly different systemic and ocular signs • Classical • Spndylosplastic • Hyperextensible joints, bruising, • Vascular • Musculocontractural and poor- wound healing are a well- • Myopathic known feature of many types of • Kyphoscoliosis EDS (especially the most com m on • Periodontal Types, II and III) • Arthrochalasia • “As of 2017, 13 Ehlers–Danlos • Dermatospraxis • Cardiac-Vascular syndromes had been characterized, with a significant overlap in features” https://sites.google.com/site/ehlerdanlosf ordummies/the-history-of-eds 1 James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease MOST COMMON: HYPERMOBILE CLASSICAL-TYPE EHLERS-DANLOS SYNDROME EHLERS-DANLOS SYNDROME • Associated with extremely elastic • “Characterized primarily by joint fragile(stretchy), and smoothbruises easily,skin that wide, is hypermobility affecting both large atrophic scars (flat or depressed and small joints, which may lead to scars), and joint hypermobility recurrent joint dislocations and • Molluscoid pseudotumors subluxations (partial dislocation) (calcified hematomas over • In general, people with this type pressure points such as the have soft, smooth and velvety skin elbow) and spheroids (fat- shins)containing are also cysts frequently on forearms seen and ofwith the easy muscles bruising and/or and bones”chronic pain https://www.pressrelease.com/news/ehl ers-danlos-society-receives- https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes transformational-gift-for-119892 VASCULAR-TYPE KYPHOSCOLIOSIS-TYPE EHLERS-DANLOS SYNDROME EHLERS-DANLOS SYNDROME • ”Characterized by thin, • ”Associated with severe hypotonia at birth, delayed extremelytranslucent fragile skin that and is bruises motor development, easily fromprogressive birth), scoliosisand scleral (present • fragility includingCharacteristic large facial eyes, features a thin • nose, and lobeless ears haveAffected easy people bruising; may fragile also • Joint hypermobility is present, but generally rupture;arteries that unusually are prone small to confined to the small joints corneas; and osteopenia (low (fingers, toes)” bone density)” https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes https://www.scoliosisassociates.com/conditions/ehlers-danlos-syndrome/ BRITTLE CORNEA VARIANT OF EHLERS-DANLOS SYNDROME BRITTLE CORNEA SYNDROME: (RARE) PRESENTATION AND ANT SEG OCT • Brittle Cornea Syndrome (BCS) is “characterized by thin cornea, early onset progressive keratoglobus and blue sclerae” • Like blue sclera, this is rare in ambulatory patients http://www.cityeye.com.au/patient-information/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006/ 2 James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease SYSTEMIC SYMPTOMS OF EHLERS-DANLOS SYNDROME INFLAMMATORY DISEASES AND EDS • In general, these patients are athletic, so diagnosis of EDS is often delayed • Mild hypermobility may have some advantages for pregnancy and childbirth • theBut numbernot much of later surgeries in life, they have may exceed their age https://www.ncbi.nlm.nih.gov/pmc /articles/PM C5209734/ http://www.marieclaire.co.uk/opinion/ehlers-danlos-syndrome-living-with-eds-and- finding-treatment-10731 AUTOIMMUNE AND EDS: BECHET DISEASE IN THE AUTOIMMUNE AND EDS: NFL/CHOROID FIBROMYALGIA AND THE CORNEA http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004- 27492017000200069&lng=en&nrm=iso&tlng=en https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804273/ AUTOIMMUNE AND EDS: RHEUMATOID ARTHRITIS RA AND SCLEROMALACIA http://webeye.ophth.uiowa.edu/eyeforum/atlas/pages/S http://webeye.ophth.uiowa.edu/eyeforum/atlas/pages/S clerom alacia-in-RA/index.htm clerom alacia-in-RA/index.htm 3 James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease RHEUMATOID ARTHRITIS AND EDS: OTHER OCULAR CONSEQUENCES JOINT SUPPORT RING SPLINTS OF EHLERS-DANLOS SYNDROME • Exposure Keratitis • Corneal Hysteresis • Refractive Error • Strabismus • Postural Orthostatic Tachycardia Syndrome https://decisionmakerplus.net/case-report-post/exposure-keratopathy-secondary-to- https://youtu.be/tW Mjl0iLk50 lagophthalmos-2/#1454791209937-f372e282-b6d16c55-bb67 TREATING DRY EYE IN EDS: 1. EXPOSURE KERATITIS AND EDS ANT-INFLAMMATORIES https://decisionmakerplus.net/case-report-post/exposure-keratopathy-secondary-to- https://www.slideshare.net/drajayslide/dry-eye-19808747 lagophthalmos-2/#1454791209937-f372e282-b6d16c55-bb67 https://www.goodrx.com/fml?drug-name=fml TREATING DRY EYE IN EDS: 2 .CORNEAL HYSTERESIS IN EDS: SALAGEN (ORAL PILOCARPINE) OCULAR RESPONSE ANALYZER https://www.goodrx.com/salagen?drug-name=Salagen http://www.reichert.com/product_details.cfm?pcId=652&skuId=2976&skuTk=1036239258#.WnG8xK2ZOu4 4 James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease WHY YOU WON’T OFTEN SEE WHY REFRACTIVE SURGERY IS BLUE SCLERA IN EDS CONTRAINDICATED IN EDS • Blue sclera is normal in newborns and the elderly • Adult patients with thin blue sclerae have a brittle cornea and ectasia risk • The weak cornea and sclera retinalputs the detachment patient at risk and for globe rupture with ocular injury http://www.reviewofcontactlenses.com/content/d/irregular_cornea/c/60783/ https://globalgenes.org/raredaily/ehlers-danlos-syndrome-6-spells-multiple-problems-for-dagmara/ SCLERAL LENSES TREAT POST- TREATING POST-LASIK ECTASIA IN LASIK ECTASIA AND DRY EYE IN EDS: SCLERAL CONTACT LENSES EDS • Corneal transplants are a EDSparticular patients challenge with keratoconus for most due to risk of a ruptured globe • keratoplasty,Preceding penetrating a 360 degree conjunctival peritomy must be done • donorDescemet’s eye hasmembrane to be sutured from onthe monthsin a ring lfirst, ater followed by a PK http://globalrefractivesolutions. com /sclerallenses.htm l http://lasikadvisory.blogspot.com/2013/03/avedro- ccl-treatment-for-kerataconus-or.html TREATING POST-LASIK ECTASIA: ANTERIOR SEGMENT OCT KERARING FOR EDS AFTER KERARING http://www.ijo.in/article.asp?issn=0301- http://www.ijo.in/article.asp?issn=0301- 4738;year=2011;volume=59;issue=6;spage=437;epage=443;aulast=Tunc;type=3 4738;year=2011;volume=59;issue=6;spage=437;epage=443;aulast=Tunc;type=3 5 James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease TREATING ECTASIA IN EDS WITH CORNEAL COLLAGEN CROSS-LINKING 3. REFRACTIVE ERROR IN EDS • Most casual references to theEhlers eye-Danlos report syndrome high myopia and in these patients • hyperextensibilityWhile scleral or corneal would theselogically patients result arein myopia, often too ambulatorysick to report setting to us in an • But they may have another connective tissue disorder http://www.corneaclinic.com/collagencrosslinking.html https://medicalpictures.net/stickler-syndrom e-pictures/ HIGH MYOPIA IN EDS? EDS DIFFERENTIAL DIAGNOSIS: OD: -8.00 D, OS: -14.00 D STICKLER SYNDROME • ProgressiveAlso called Hereditary Arthro- Ophthalmopathy is an connectiveautosomal- dominanttissue disease • Like Marfan, it causes very high detachmentmyopia and possible retinal • 7,500It is seen patients as frequently as one in • One characteristic feature is a vitreous veil, as seen here Wright, Figure 5-5, page 241 Wright 3, figure 12-1 AMBLYOPIA, STRABISMUS AND ANTERIOR SEGMENT FEATURES STICKLER SYNDROME OF STICKLER SYNDROME: CATARACT • patientOne way can in whichpresent a Stickleris with detachmentstrabismus secondary to retinal • resultedIn this Stickler in LET patient, an RD in OS • If the eye turn occurs before age 2, it is amblyogenic • More often, the poor VA in the detachmentstrabismic eye affects is because the macula the and is not true amblyopia Wright, Handbook of Pediatric Retinal https://medicalpictures.net/stickler-syndrome-pictures/ Disease, Figure 6-5, page 184 6 James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease POSTERIOR SEGMENT FEATURES RADIAL LATTICE DEGENERATION OF STICKLER SYNDROME IN STICKLER SYNDROME • Minor ocular trauma can cause • vitreous hemorrhage and/or Other anterior segment retinal detachments complications are rare • The vitreous is typically liquified • seenFor example, in 5%
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