Taylor W O
Trans Ophthalmol Soc U K (1962). 1981;101 (Pt 2):223-8.
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.
请注意罕见的常染色体隐性遗传性Hermansky-Pudlak综合征，因为在白化病、血小板缺乏和“类蜡质”代谢障碍这一三联征中存在意外死亡的重大风险，而这一点在眼科文献中似乎被忽视了。本文描述了一例可能来自苏格兰的病例。
