Congenital aniridia – A comprehensive review of clinical features and therapeutic approaches

Congenital aniridia is a panocular disease primarily characterized by various degrees of iris and foveal hypoplasia. In most cases, the genetic origin is a mutation in the paired-box gene 6 (PAX6), which leads to fundamental disturbances in eye development. Severe, secondary complications are common, including keratopathy, glaucoma, cataract, and dry eye disease. These tend to appear from childhood or adolescence and often lead to considerable visual impairment. Nonocular findings of the disease are also being reported, and the term “aniridia syndrome” is now being used more frequently.
Source: Survey of Ophthalmology - Category: Opthalmology Authors: Tags: Review article Source Type: research