Hermansky-Pudlak Syndrome: Albinism with Lipofuscin Storage

Overview

Journal Int Ophthalmol

Specialty Ophthalmology

Date 1981 Aug 1

PMID 7298260

Citations 4

Authors

W R Fagadau

M H Heinemann

E COTLIER

Affiliations

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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.

Citing Articles

Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.

Romano G, Platania C, Leggio G, Torrisi S, Giunta S, Salomone S Sci Rep. 2020; 10(1):3972.

PMID: 32132582 PMC: 7055265. DOI: 10.1038/s41598-020-60931-5.

Lipofuscin accumulation and autophagy in glaucomatous human lamina cribrosa cells.

McElnea E, Hughes E, McGoldrick A, McCann A, Quill B, Docherty N BMC Ophthalmol. 2014; 14:153.

PMID: 25444463 PMC: 4265474. DOI: 10.1186/1471-2415-14-153.

Vision in albinism.

Summers C Trans Am Ophthalmol Soc. 1996; 94:1095-155.

PMID: 8981720 PMC: 1312119.

Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

Kinnear P, Tuddenham E Br J Ophthalmol. 1985; 69(12):904-8.

PMID: 4084482 PMC: 1040879. DOI: 10.1136/bjo.69.12.904.

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