Retinal epithelium pigment abnormalities in Fabry's disease.

Introduction Fabry's disease is an X linked disease with ocular, skill and kidney, lesio ns. We report a case which presented all the ophthalmologic signs and parti cular retinal manifestations. Case report Fabry's disease was suspected in a 18 year old young mml, with angiokeratom es, attacks of pain located in fingers, toes and also in the abdomen. Typic al ocular morphological findings, namely whorl-like corneal opacities, post erior spoke-like cataracts and tortuosity of conjunctival vessels were foun d. His mother had the same ocular signs, The patient was also examined with fluorescein fundus angiography. Discussion The diagnostic value of the ocular abnormalities call be significant and ar e very indicative of the disease in hemizygous and heterozygous patients. E xcept the retinal vascular tortuosity, we describe peripheric abnormalities of the retinal pigment epithelium suggesting another disease finding.