Congenital aniridia- there's more than meets the eye

Abstract

Congenital aniridia is a rare panocular disorder, leading to significant visual impairment which may present as an isolated ocular phenotype or in association with a systemic syndrome. We report the case of a 20-year-old female with congenital aniridia associated with ectopia lentis, horizontal pendular nystagmus, and foveal hypoplasia, leading to low vision subsequently limiting her social life. This case report highlights the importance of early intervention with low vision aids and focused rehabilitation to enhance the quality of life in individuals with congenital aniridia, thus preventing progression to permanent disability.