A girl with Hermansky-Pudlak syndrome

A young girl with ocular albinism and the Hermansky-Pudlak syndrome is described. Ocular albinism generally occurs in males. In this condition, the pigmentation of the skin and hair is nearly normal, and the melanin pigment abnormality is limited to the eyeballs. The chief complaints are visual disturbance, nystagmus, and photophobia. A 3-year-old girl was recently brought to our hospital with nystagmus, which she had exhibited since the age of 1 year. Funduscopy resulted in a diagnosis of ocular albinism. Further investigations, specifically, microscopy of her platelets, led us to conclude that she had Hermansky-Pudlak syndrome.