This 14YO female has a history of nystagmus and vision loss from oculocutaneous albinism. There was no significant family history. Vision was 20/120 OU.
Color photography shows bilateral marked choroidal hypopigmentation with foveal hypoplasia. No genetic testing or pedigree analysis was performed.
Learning Points:
Albinism is a group of genetic disorders characterized by abnormal melanin production due to faulty amino acid production. Patients have either only eye involvement (ocular albinism) or eye and skin (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.
