Ophthalmologic Aspects of Lipid Storage Diseases

doi:10.1016/S0161-6420(78)35592-5

Ophthalmology

Volume 85, Issue 10, October 1978, Pages 1007-1013

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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.

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: Presented at the Eighty-second Annual Meeting of the American Academy of Ophthalmology and Otolaryngology, Dallas, Oct 2–6, 1977.

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Ophthalmologic Aspects of Lipid Storage Diseases

Am J Med

Biochem Biophys Res Commun

Metabolism

Symmetrical changes in the region of the yellow spot in each eye of an infant

Trans Ophthalmol Soc UK

Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease

Biochem Biophys Res Commun

Generalized gangliosidosis: Beta-gangliosidase deficiency

Science

The metabolism of sphingomyelin I: Evidence of an enzymatic deficiency in Niemann-Pick disease

Proc Natl Acad Sci USA

Enzymatic defect in Fabry's disease: Ceramidetrihexosidase deficiency

N Engl J Med

Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood

Science