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Hermansky-Pudlak syndrome: albinism with lipofuscin storage

Research paper by Warren R. Fagadau, Murk H. Heinemann, Edward Cotlier

Indexed on: 01 Aug '81Published on: 01 Aug '81Published in: International Ophthalmology



Abstract

The Hermansky-Pudlak Syndrome, a ‘tyrosinase positive’ form of oculocutaneous albinism, is a triad comprising albinism, a hemorrhagic diathesis and ceroid-lipofuscin storage. A pedigree is presented showing consanguinity with a pattern of pseudodominance.Electroretinography in two isolated Hermansky-Pudlak subjects was distinctly abnormal, showing decreased rod and cone responses (as well as abnormal flicker fusion responses) in one patient, and reduced photopic and scotopic responses in another. The decreased ERG responses are discussed with reference to the known retinal abnormalities in both generalized oculocutaneous albinism and Batten's disease, another ceroidlipofuscin storage disorder.