The mystery of the missing pit

Abstract

Foveal hypoplasia refers to the underdevelopment of fovea, characterized by the continuity of the inner retinal layers in the presumed foveal area; the foveal avascular zone may be limited or absent, and retinal vessels may be seen coursing through the foveal region. It is usually associated with aniridia, albinism, achromatopsia, or retinopathy of prematurity. Isolated foveal hypoplasia is a rare clinical entity. We hereby report a case of congenital nystagmus with foveal hypoplasia. Fundus finding in isolated foveal hypoplasia though typical is very subtle and often difficult to detect, especially due to accompanying nystagmus. The presence of nystagmus and poor vision in infants or children without any ocular finding should prompt the ophthalmologist to carry out a thorough fundus examination of the foveal area and to perform an optical coherence tomography to confirm the diagnosis.

Keywords

• development
• foveal hypoplasia
• nystagmus
• optical coherence tomography