Ophthalmologic aspects of lipid storage diseases.
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.
D003116:Color; D003318:Corneal Opacity / Q000209:etiology; D000795:Fabry Disease / Q000150:complications; D005260:Female; D005733:Gangliosidoses / Q000150:complications; D006801:Humans; D008266:Macula Lutea; D008297:Male; D009542:Niemann-Pick Diseases / Q000150:complications; D011247:Pregnancy; D012164:Retinal Diseases / Q000209:etiology; D012171:Retinal Vessels; D013106:Sphingolipidoses / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D013661:Tay-Sachs Disease / Q000150:complications