The eye in epidermolysis bullosa

Aims-To describe the ophthalmic findings in a large cohort of epidermolysis bullosa (EB) patients managed in one large specialist centre. Methods-A case note review of consecutive patients seen at Great Ormond Str eet Children's Hospital. Data on the dermatological disease, ophthalmic his tory, and examination were collected and coded onto a data sheet. Results-181 patients: 50 (28%) simplex EB; 15 (8%) junctional EB; 28 (15%) autosomal dominant dystrophic EB; 72 (40%) autosomal recessive dystrophic E B; nine patients (5%) with dystrophic EB whose inheritance could not be asc ertained; and seven cases (4%) of EB that could not be classified. Ocular p roblems were found in 12% (n=6) of simplex patients and 40% (n=6) of those with junctional disease. One patient (of 28) in the autosomal dominant dyst rophic group had ocular involvement and 51% (37/72) of patients in the auto somal recessive dystrophic group had ophthalmic complications: corneal (25/ 72), lid ectropions (3/72), Lid blisters (5/72), and symblepharon (3/72). Conclusion-Ophthalmic complications are common in EB overall but the incide nce varies widely with subtype. Ophthalmic complications are the most sever e in the dystrophic recessive and junctional subtypes where there is a need for extra vigilance. The major treatment modality was use of ocular lubric ants.