This 16YO female has a known history of oculocutaneous albinism with a lifelong history of photophobia and decreased vision bilaterally. Vision was 20/70 OU. Horizontal nystagmus was noted, along with bilateral iris transillumination defects.
Fundus photography shows bilateral marked choroidal hypopigmentation with foveal hypoplasia.
Learning Points:
Albinism is a group of genetic disorders characterized by abnormal melanin production due to faulty amino acid synthesis. Patients have either ocular (ocular albinism) or oculocutaneous (eye and skin) involvement. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. Ocular findings include strabismus, nystagmus, iris transillumination defects, blonde fundus, and foveal hypoplasia (seen on OCT as fovea plana).
