Fabry Disease Presenting with Cornea Verticillata and Skin Lesions: A Case Report

Purpose: Fabry disease is a rare, life-threatening, X‐linked disorder caused by deficient activity of the lysosomal enzyme α‐galactosidase A. Resulting in Progressive accumulation of the substrate globotriaosylceramide, throughout the body, organ failure, and premature death can occur. The syndrome has eye complications, epidermal, cardiovascular, renal, pulmonary, and gastrointestinal problems. Clinical manifestations include cardiomyopathy, renal failure, stroke, and skin lesions. The cornea verticillata is whorl-like radial lines that emanated from a single vortex that seen in the examination of slit-lamp. In cases where Fabry syndrome is known, other effects of this syndrome include the distinctive lenticular opacities and conjunctival and retinal vascular tortuosity. Methods: We present the case of Fabry disease in A 37-year-old man who referred by Dermatology Department for ocular evaluation, with some skin lesions. In past medical history, he had Left ventricular hypertrophy and Hypertension Also a history of alcoholism. He had taken aspirin and metoprolol. His best-corrected visual acuity was 10/10 in both eyes. The fundoscopic examination was normal. Slit lamp examination revealed cornea verticillata. Results: According to the findings from clinical history, physical examination and imaging results; Fabry disease was diagnosed for the patient.Conclusion: Recently, enzyme-replacement therapy has become available, early diagnosis so that treatment can be initiated before constant organ damage. Awareness of Fabry disease among eye specialists can lead to early detection and thus reduce morbidity and mortality.