James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease LEARNING OBJECTIVES 1. W hy doesn’t Ehlers-Danlos Syndrome(EDS) present more often with high m yopia, keratoconus, and lacquer cracks in Bruch’s membrane? EHLERS-DANLOS SYNDROME 2. W hat are the most common presenting symptoms of EDS? 3. W hat are the most common clinical signs of EDS, including AND THE EYE subtle ones? 4. How are these EDS problems best treated by the primary-care optometrist? 2018 V IC TO R IA CO N FER EN C E JA M ES KU N D A RT O D M ED FA AO FCO V D -A PA C IFIC U N IV ERSITY CO LLEG E O F O PTO M ETRY FIN A N C IA L D ISC LO SU R E: N OTH IN G TO D ISC LO SE http://w w w.ncbi.nlm .nih.gov/pm c/articles/PM C3504533/figure/F1/ CONNECTIVE TISSUE DISORDERS CONNECTIVE TISSUE DISORDERS IN PRIMARY EYE CARE AND OPTOMETRY • The eye and adnexa are both • Ehlers-Danlos Syndrome made of connective tissue, • Pseudoxanthoma Elasticum from lid tissue, sclera and • Osteogenesis Imperfecta cornea to the zonules and extra-ocular muscle tendons • MarfanSyndrome • Refractive error, binocularity, • Stickler Syndrome and eye disease are all • Others impacted by connective tissue 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 • Hypermobile • Classical-like • T h is c o n n e c tiv e tis s u e d is o rd e r • Classical • Spndylosplastic c o m e s in s e v e ra l ty p e s w ith s lig h tly d iffe re n t sy ste m ic a n d o c u la r s ig n s • Vascular • Musculocontractural • H y p e re x te n s ib le jo in ts , b ru is in g , • Myopathic a n d p o o r-w o u n d h e a lin g a re a w e ll- • Kyphoscoliosis k n o w n fe a tu re o f m a n y ty p e s o f • Periodontal E D S (e s p e c ia lly th e m o st c o m m o n • Arthrochalasia Ty p e s , II a n d III) • Cardiac-Vascular • “As of 2017, 13 Ehlers–Danlos • Dermatospraxis 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 (stretchy), smooth skin that is • “Characterized prim arily by joint fragile and bruises easily, wide, hyperm obility affecting both large atrophic scars (flat or depressed scars), and joint hypermobility and sm all joints, w hich m ay lead to recurrent joint dislocations and • M olluscoidpseudotumors subluxations (partial dislocation) (calcified hematomas over pressure points such as the • In general, people w ith this type elbow) and spheroids (fat- have soft, sm ooth and velvety skin containing cysts on forearms and shins) are also frequently seen w ith easy bruising and chronic pain of the m uscles and/or bones” 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 • ” Associated with severe • ”Characterized by thin, hypotonia at birth, delayed translucent skin that is motor development, extremely fragile and bruises progressive scoliosis (present easily from birth), and scleral fragility • Characteristic facial features including large eyes, a thin • Affected people may also nose, and lobelessears have easy bruising; fragile • Joint hypermobility is arteries that are prone to present, but generally rupture; unusually small corneas; and osteopenia (low confined to the small joints (fingers, toes)” bone density)” https://www.scoliosisassociates.com/conditions/ehlers-danlos-syndrome/ https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes BRITTLE CORNEA VARIANT OF BRITTLE CORNEA SYNDROME: EHLERS-DANLOS SYNDROME PRESENTATION AND ANT SEGOCT (RARE) • 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/ h ttp s://w w w .n cb i.n lm .n ih .g o v /p m c/a rticle s/P M C 3 6 5 9 0 0 6 / 2
James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease SYSTEMIC SYMPTOMS OF INFLAMMATORY DISEASES AND EDS EHLERS-DANLOS SYNDROME • In general, these patients are athletic, so diagnosis of EDS is often delayed • Mild hypermobility may have some advantages for pregnancy and childbirth • But not much later in life, the number of surgeries they have may exceed their age h ttp s://w w w .n cb i.n lm .n ih .g o v /p m c /a rticle s/P M C 5 2 0 9 7 3 4 / 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 h ttp ://w w w .scie lo .b r/scie lo .p h p ? scrip t= sci_ a rtte x t& p id = S 0 0 0 4 - h ttp s://w w w .n cb i.n lm .n ih .g o v /p m c/a rticle s/P M C 4 8 0 4 2 7 3 / 2 7 4 9 2 0 1 7 0 0 0 2 0 0 0 6 9 & ln g = e n & n rm = iso & tln g = e n AUTOIMMUNE AND EDS: RA AND SCLEROMALACIA RHEUMATOID ARTHRITIS h ttp ://w e b e ye .o p h th .u io w a .e d u /e ye fo ru m /a tla s/p a g e s/S h ttp ://w e b e ye .o p h th .u io w a .e d u /e ye fo ru m /a tla s/p a g e s/S cle ro m a la cia -in -R A /in d e x.h tm cle ro m a la cia -in -R A /in d e x.h tm 3
James Kundart OD MEd FAAO FCOVD-A 6/17/18 Opt 707 Pediatric Ocular Disease OTHER OCULAR CONSEQUENCES RHEUMATOID ARTHRITIS AND EDS: OF EHLERS-DANLOS SYNDROME JOINT SUPPORT RING SPLINTS • Exposure Keratitis • Corneal Hysteresis • Refractive Error • Strabismus • Postural Orthostatic Tachycardia Syndrome https://decisionmakerplus.net/case-report-post/exposure-keratopathy-secondary-to- h ttp s://yo u tu .b e /tW M jl0 iL k 5 0 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- h ttp s://w w w .slid e sh a re .n e t/d ra jayslid e /d ry-e ye -1 9 8 0 8 7 4 7 lagophthalmos-2/#1454791209937-f372e282-b6d16c55-bb67 h ttp s://w w w .g o o d rx.co m /fm l? d ru g -n a m e = fm l TREATING DRY EYE IN EDS: 2 .CORNEAL HYSTERESIS IN EDS: SALAGEN (ORAL PILOCARPINE) OCULAR RESPONSE ANALYZER http://www.reichert.com/product_details.cfm?pcId=652&skuId=2976&skuTk=1036239258#.WnG8xK2ZOu4 h ttp s://w w w .g o o d rx.co m /sa la g e n ? d ru g -n a m e = S a la g e n 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 norm al in new borns and the elderly • Adult patients w ith thin blue sclerae have a brittle cornea and ectasia risk • The w eak cornea and sclera puts the patient at risk for retinal detachm ent and globe rupture w ith 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- LASIK ECTASIA AND DRY EYE IN TREATING POST-LASIK ECTASIA IN EDS EDS: SCLERAL CONTACT LENSES • Corneal transplants are a particular challenge for m ost ED S patients w ith keratoconus due to risk of a ruptured globe • Preceding penetrating keratoplasty , a 360 degree conjunctival peritom y m ust be done • D escem et’sm em brane from the donor eye has to be sutured on in a ring first, follow ed by a PK m onths later h ttp ://g lo b a lre fra ctive so lu tio n s. co m /scle ra lle n se s.h tm l http://lasikadvisory.blogspot.com /2013/03/avedro- ccl-treatm ent-for-kerataconus-or.htm l TREATING POST-LASIK ECTASIA: ANTERIOR SEGMENT OCT KERARING FOR EDS AFTER KERARING http://w w w.ijo.in/article.asp?issn=0301- http://www.ijo.in/article.asp?issn=0301- 4738;year=2011;volum e=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
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