PMID: 10052049Mar 3, 1999

Retinal pigment anomalies associated with Fabry's disease

Journal français d'ophtalmologie
D JourdelJ C Hache


Fabry's disease is an X linked disease with ocular, skin and kidney lesions. We report a case which presented all the ophthalmologic signs and particular retinal manifestations. Fabry's disease was suspected in a 18 year old young man, with angiokeratomes, attacks of pain located in fingers, toes and also in the abdomen. Typical ocular morphological findings, namely whorl-like corneal opacities, posterior spoke-like cataracts and tortuosity of conjunctival vessels were found. His mother had the same ocular signs. The patient was also examined with fluorescein fundus angiography. The diagnostic value of the ocular abnormalities can be significant and are very indicative of the disease in hemizygous and heterozygous patients. Except the retinal vascular tortuosity, we describe peripheric abnormalities of the retinal pigment epithelium suggesting another disease finding.

Related Concepts

Fabry Disease
Fluorescence Photography, Fundus
Genetic Carriers
Genetic Linkage Analysis
Retinal Diseases
Retinal Pigments
X Chromosome

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