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.