RESUMEN
CASE REPORT: Fabry's disease is an illness produced by an alteration in the catabolism of the glycosphingolipids. We report ophthalmologic findings in 4 people, detected after 113 patient evaluations from an analytical, cardiological and genetic point of view. DISCUSSION: Fabry's disease is uncommon and shows variable ophthalmologic affectation. Some patients with Fabry's disease do not present ocular affectation, while, on the other hand, healthy carriers with important ocular alterations have been described. The deposit of glycosphingolipids produces affectation at the corneal, crystalline, vascular and retinal levels. The vascular alterations affect not only the veins but also the arteries, as we report in our patients.
Asunto(s)
Oftalmopatías/etiología , Enfermedad de Fabry/complicaciones , alfa-Galactosidasa/genética , Anciano , Secuencia de Carbohidratos , Catarata/etiología , Enfermedades de la Conjuntiva/etiología , Enfermedades de la Córnea/etiología , Técnicas de Diagnóstico Oftalmológico , Oftalmopatías/diagnóstico , Enfermedad de Fabry/enzimología , Enfermedad de Fabry/genética , Glicoesfingolípidos/análisis , Glicoesfingolípidos/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Linaje , Vasos Retinianos/metabolismo , Vasos Retinianos/patologíaRESUMEN
CLINICAL CASE: A 45-year-old male referred with a scotoma in the left eye of 2 months' evolution. A peripapillary tumor was found, with a basal diameter of 7 mm and thickness 3.4 mm. It was diagnosed as a circumscribed choroidal hemangioma. It was decided to treat the patient using photodynamic therapy. After 4 sessions and 17 months follow-up, the patient remained asymptomatic and visual acuity was stable. There was evidence of subretinal fibrosis and no subretinal fluid was found. DISCUSSION: Photodynamic therapy is a good option for the treatment of circumscribed choroidal hemangioma given the minimal damage is causes to the adjacent retina.