Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability.

Isolated foveal hypoplasia.

Querques G, Prascina F, Iaculli C, Noci ND

Department of Ophthalmology, Policlinico Riuniti di Foggia, University of Foggia, Viale Pinto, 1, Foggia, 71100, Italy, giuseppe.querques@hotmail.it.

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.

Published 10 April 2008 in Int Ophthalmol.
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