Keratopathy, cataract, and dry eye in a survey of aniridia subjects

PURPOSE To determine the prevalence of keratopathy, cataract, and dry eye in a group of individuals with aniridia. METHODS We reviewed survey data from the Aniridia Foundation International (AFI) registry, which included 99 subjects who self-reported on corneal disease, cataract, and dry eye disease. RESULTS The average age of respondents was 25.3±18.6 years, with a range of 0 to 67. Of 99 subjects, 46% stated they have corneal disease, 32% stated they did not, and 22% were unsure. The average age of diagnosis of keratopathy was 20.0±12.2 years. Keratolimbal allograft was reported in 20% and penetrating keratoplasty in 9%. Cataract was reported in 65%, with an average age of 9.4±14.0 years at time of diagnosis, and cataract surgery was reported in 32%. The average age of subjects at the time of cataract and corneal surgery was 28.4±13.7 and 33.5±11.4 years, respectively. Symptomatic dry eye was reported in 56% of subjects, with an average age at diagnosis of 23.8±13.3 years. CONCLUSION There is a high prevalence of corneal disease in aniridia, with diagnosis in late childhood or early adulthood in nearly one-half of subjects, often requiring corneal surgery. Cataract and dry eye are commonly associated with aniridia. Although aniridia subjects may have been aware of the diagnosis of cataract at an early age, they usually were treated for cataract and keratopathy as adults.