Isolated foveal hypoplasia: A case series

Abstract

Foveal hypoplasia is a well-known condition characterized by an absent or abnormal foveomacular reflex. It may occur in isolation or in association with aniridia, albinism, achromatopsia, microphthalmos, and other anterior segment anomalies. The clinical diagnosis might often be missed due to the subtle nature of findings. We describe five cases of two families with isolated foveal hypoplasia. The presence of nystagmus and unexplained poor vision in children without features of retinal dystrophies should raise a suspicion of isolated foveal hypoplasia. Detailed and careful fundus examination, especially the foveal area, helps in diagnosing the same.

Keywords

• congenital nystagmus
• foveal hypoplasia
• low vision
• optical coherence tomography