Ophthalmologic aspects of lipid storage diseases

Brady, R.O.; Brady, R.O

doi:10.1016/s0161-6420(78)35592-5

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Ophthalmologic aspects of lipid storage diseases

Brady, R.O.

Ophthalmology 85(10): 1007-1013

1978

ISSN/ISBN: 0161-6420

PMID: 105334

DOI: 10.1016/s0161-6420(78)35592-5
Accession: 080230451

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Summary

A cherry-red spot in the macular region of the fundus is the hallmark of the metabolic disorder known as Tay-Sachs disease. Ocular involvement is also a frequent concomitant of generalized gangliosidosis Niemann-Pick disease, and Fabry's disease. Ophthalmologists who are aware of these manifestations are often the first to derive the correct diagnosis in patients with these heritable conditions.