Albinos who bleed (Hermansky-Pudlak syndrome). The Gypsy's Warning?
Attention is drawn to the uncommon autosomal recessive Hermansky-Pudlak syndrome, because of the very material risk of unexpected death in this triad of albinism, platelet deficiency, and failure of 'ceroid' metabolism, which appears to have been overlooked in ophthalmic literature. A possible Scottish case is described.
D000417:Albinism / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*