Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis).
We report the association of oculocutaneous albinism and defective platelet function, the Hermansky-Pudlak syndrome, in two young Puerto Rican patients, a 17-year-old boy and a 9-year-old girl. Wide variation in pigmentation may obscure the diagnosis of albinism. Puerto Rican albinos are at increased risk of inheriting this autosomal recessive syndrome. Although usually mild, bleeding in affected patients can be life-threatening, especially after aspirin administration. Albino patients should be questioned about a history of bleeding and referred for hematologic consultation.
D000293:Adolescent; D000417:Albinism / Q000150:complications* / Q000235:genetics; D001778:Blood Coagulation Disorders / Q000150:complications* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications / Q000235:genetics; D011647:Puerto Rico; D013577:Syndrome; D014786:Vision Disorders / Q000150:complications