Ophthalmologic aspects of lipid storage diseases.

ABSTRACT

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.