This 25YO male has a history of nystagmus and vision loss from oculocutaneous albinism. Her grandfather also had albinism. Vision was 20/70 bilaterally.
Color photography shows bilateral marked choroidal hypopigmentation with foveal hypoplasia. OCT scanning shows the absence of the normal foveal depression.
Learning Points:
Albinism is a group of genetic disorders characterized by abnormal melanin production due to faulty amino acid production. Patients have either eye-only involvement (ocular albinism) or eye and skin involvement (oculocutaneous albinism). Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. Ocular findings include strabismus, nystagmus, iris transillumination defects, blonde fundus, and foveal hypoplasia. There are often a higher number of crossed nerve fibers at the optic chiasm.
Fovea plana is characterized by the absence of the foveal pit, which is formed embryologically by the inner retinal tissues and vasculature being displaced centrifugally. It is most commonly associated with albinism, prematurity, or as an isolated finding. Despite the abnormal foveal architecture, vision is usually normal, unless due to albinism.
