RESUMEN
La enfermedad de Fabry (EF) es una patología genética rara ligada al cromosoma X, de depósito lisosomal, por la deficiencia de la enzima alfa-galactosidasa A, que produce la acumulación de globotriaosilceramida, ocasionando afectación renal, cardiaca, oftalmológica y del sistema nervioso. Objetivo: Realizar un análisis descriptivo de las manifestaciones oftalmológicas en pacientes mexicanos con EF. Material y métodos: Se incluyeron 13 pacientes con diagnóstico clínico y bioquímico de EF. Resultados: La córnea verticilata se encontró en el 57% de varones y en el 33% de portadoras. Conclusión: La córnea verticilata es la manifestación oftalmológica más frecuente en varones afectados y portadoras de EF en México(AU)
Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme alpha-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. Aim: To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD. Material and methods: We studied 13 patients with clinical and biochemical diagnostic of FD. Results: Cornea verticillata was found in 57% of men and 33% carriers. Conclusion: Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico(AU)
Asunto(s)
Humanos , Masculino , Femenino , Enfermedad de Fabry/complicaciones , Enfermedad de Fabry/diagnóstico , Oftalmopatías/complicaciones , Oftalmopatías/diagnóstico , Catarata/complicaciones , Oftalmopatías/fisiopatología , Córnea/metabolismo , Córnea/patología , Enfermedades de la Córnea/fisiopatologíaRESUMEN
UNLABELLED: Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. AIM: To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD. MATERIAL AND METHODS: We studied 13 patients with clinical and biochemical diagnostic of FD. RESULTS: Cornea verticillata was found in 57% of men and 33% carriers. CONCLUSION: Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico.