Aniridia cohort data from the Schwiete center

Abstract

In congenital aniridia, there is malformation of almost all eye segments. In addition, endocrinologic, metabolic and central nervous systems diseases may be present. The most common ophthalmic signs in congenital aniridia are AAK, iris malformation, cataract and macular hypoplasia. Between 556 eyes of 286 subjects (20.1 ± 20.1 years; 45.5% males), there was nystagmus in 518 (93.7%) eyes, strabismus in 327 (58.8%) eyes. There was iris malformation with atypical coloboma in 34 eyes (6.1%), more than 6 clock hours of iris remnants in 61 eyes (10.9%), less than 6 clock hours of iris remnants in 96 eyes (17.2%), and complete aniridia in 320 (57.5%) eyes. The patients were graded according to the following aniridia‐associated keratopathy (AAK) stages: Stage 0 (96 eyes (17.2%), no keratopathy), Stage 1 (178 eyes (32.0%)), Stage 2 (107 eyes (19.2%)), Stage 3 (67 eyes (12.0%)), Stage 4 (62 eyes (11.1%)), Stage 5 (45 eyes (8.0%)). There was clear lens in 127 (22.8%), cataract in 224 (40.2%), subluxated lens in 9 (1.6%), pseudophakia in 129 (23.2%), aphakia in 32 (5.7%) eyes. There was secondary glaucoma in 307 (55.5%), macular hypoplasia in 395 (71.4%) and congenital optic nerve head pathology in 223 (40.3%) eyes. The iris malformation type may indicate future expression of AAK, cataract and glaucoma development and it is correlated with congenital optic nerve head and macular pathology. Our registry will support further detailed longitudinal analysis of ophthalmic and systemic diseases of aniridia subjects during long‐term follow‐up.