Eye involvement in inherited epidermolyi bulloa: Experience of the National Epidermolyi Bulloa Regitry

Purpoe To determine the frequency of ocular manifetation in inherited epidermolyi bulloa (EB) within the continental United tate and to define the etimated cumulative rik of developing noncarring (bliter or eroion) and carring corneal manifetation within each major EB ubtype over time. Deign Obervational (cro-ectional and longitudinal). Method Up to 16 year of longitudinal follow-up wa conducted on 3,280 conecutively enrolled patient in the National EB Regitry, an epidemiologic tudy funded by the National Intitute of Health. Data were tratified by major EB type and ubtype. Frequencie of occurrence were determined for eight variable (corneal eroion or blitering; corneal carring; ymblepharon; blephariti; ectropion; lacrimal duct obtruction; impaired viion; blindne) by contingency table, and cumulative rik were generated by life table analyi technique. Reult The mot common ocular manifetation were corneal eroion and bliter. Frequencie mirrored relative everity of kin dieae, with 74.10% of all patient with receive dytrophic EB, Hallopeau-iemen (RDEB-H) and 47.50% of all patient with junctional EB, Herlitz (JEB-H) experiencing at leat one epiode. Lower frequencie were noted for corneal carring. ymblepharon and ectropion were mot commonly een in invera RDEB and JEB-H, repectively. Blindne wa reported in 6.47% of RDEB-H patient. The cumulative rik of noncarring and carring corneal leion in JEB-H at age 5 are 83.18% and 27.08% and at age 25 are 83.18% and 72.22%. With time, the cumulative rik of each in RDEB-H approached that reported in JEB-H patient. Concluion Ocular dieae activity, particularly corneal, i common in ome EB ubtype. Careful ophthalmologic examination hould become an integral part of the management of all patient with inherited EB.