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Scholars Journal of Medical Case Reports | Volume-13 | Issue-12
Ocular Manifestations of Fabry Disease
Fiqhi Aissam, Sadiki Samah, Moumene Hanane, Elkhoyaali Adil, Mouzari Yassine
Published: Dec. 31, 2025 | 36 25
DOI: https://doi.org/10.36347/sjmcr.2025.v13i12.039
Pages: 3055-3057
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Abstract
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A activity, leading to systemic glycosphingolipid accumulation [1]. Ocular findings (such as cornea verticillata and conjunctivalor retinal vascular tortuosity) are frequent and may precede or accompany renal, cardiac, and cerebrovascular disease. We report the case of a 35 years old male admitted for a renal failure which the ophthalmological exam oriented the diagnosis toward Fabry disease.