Hermansky-Pudlak syndrome: albinism with lipofuscin storage.

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 ceroid-lipofuscin storage disorder.

journal_name

Int Ophthalmol

authors

Fagadau WR,Heinemann MH,Cotlier E

doi

10.1007/BF00139585

subject

Has Abstract

pub_date

1981-08-01 00:00:00

pages

113-22

issue

1-2

eissn

0165-5701

issn

1573-2630

journal_volume

4

pub_type

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