Foveal Hypoplasia in a Child With Tyrosinase-Positive Albinism.

ABSTRACT

The purpose of this article is to report a case of bilateral foveal hypoplasia in an eight-year-old girl who presented to the ophthalmology department due to poor vision in both eyes. Clinical examination revealed bilateral nystagmus, decreased vision, as well as iris transillumination. Dilated fundus examination indicated the absence of light reflex around the foveal area and optical coherence tomography (OCT) imaging exhibited the absence of the fovea centralis depression. These findings, in addition to the patient's light-colored hair and skin complexion, raised suspicion for albinism. The patient was referred for genetic testing and the results confirmed the diagnosis of tyrosinase-positive oculocutaneous albinism (OCA2).