This 11YO female presented with 20/50 vision OU. She was healthy with normal skin and hair pigmentation and was the product of a consanguineous marriage. Motility was normal without nystagmus. Bilateral iris transillumination defects were noted.
Fundus photography shows marked decreased choroidal pigmentation and absent foveal reflex. OCT scanning shows bilateral absence of the normal foveal depression (fovea plana).
Learning Points:
Ocular albinism is an X-linked recessive disorder that affects only the eyes and is caused by a mutation in the OA1 gene. Findings seen in ocular albinism include strabismus, nystagmus, iris transillumination defects, blonde fundus, and absent or blunted foveal reflex (fovea plana). There are often a higher number of crossed nerve fibers at the optic chiasm.
