Reconocimiento de alteraciones retinales en diagnóstico de enfermedad de Fabry: un reporte de caso

Abstract

Introduction: Fabry´s disease is a genetic disorder that courses with systemic and ocular manifestations, showing changes in the cornea, conjunctiva, and retina. Objective: To describe the retinal alterations identified in a patient diagnosed with Fabry´s disease in Rionegro, Antioquia in 2024, based on a case report. Case description: The ocular manifestations of a patient diagnosed with Fabry´s disease in Rionegro, Antioquia, were described and confirmed through specialized assessments and interdisciplinary management A 25-year-old female patient referred to decreased visual acuity in the right eye. An ophthalmologist referral was made, identifying vascular retinopathy in the affected eye. Genetic counseling is conducted to determine the final course of action and follow-up for the patient. Conclusions: Fabry disease is a rare pathology, with systemic and ocular involvement. Some of the systemic manifestations may be like other conditions of this type, and when these characteristics are associated with ocular damage, the diagnosis could be easier. The most frequent findings in the eye are in the cornea, conjunctiva, and retina, although some patients do not show alterations in this structure. The case reported in this document showed retinal vasculitis, but no changes were detected in the anterior segment of the eye. Interdisciplinary management was performed, and enzyme replacement therapy was indicated.