Isolated foveal hypoplasia.

PURPOSE: To describe a patient with isolated foveal hypoplasia.

METHODS

A 55-year-old man with the clinical suspicion of foveal hypoplasia was given a complete ophthalmological examination, including optical coherence tomography (OCT), fluorescein angiography (FA) and fundus-related perimetry (FRP). Mutation screening for oculocutaneous albinism and aniridia was also performed, but the results were negative for both.

RESULTS

Following a complete ophthalmological examination and genetic studies, we were able to confirm the clinical suspicion of isolated foveal hypoplasia in this otherwise healthy patient.

CONCLUSIONS

With this report we want to highlight the roles of OCT, FA and FRP in the diagnosis of such a singular condition as isolated foveal hypoplasia.