Anomalias oculares e características genéticas na síndrome de Marfan

• Autor(a) principal: Sallum, Juliana Maria Ferraz [UNIFESP]
• Data de Publicação: 2002
• Outros Autores: Chen, Jane [UNIFESP], Perez, Ana Beatriz Alvarez [UNIFESP]
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0004-27492002000600005; http://repositorio.unifesp.br/handle/11600/1575
• topic: Marfan's syndrome; Eye abnormalities; Eye diseases; Síndrome de Marfan; Anomalias do olho; Oftalmopatias

Purpose: To identify the ocular abnormalities in Marfan´s syndrome patients. Methods: Prospective study of 46 Marfan patients with complete ophthalmologic evaluation. Seventeen patients also underwent a clinical genetic and molecular analysis. Results: Among the 46 patients included in this study, the following ocular abnormalities were found more frequently: ectopia lentis (67.3%), hypoplastic irides (67.3%), retinal detachment (7.6%), flattened cornea (2.2%), megalocornea (2.2%) and myopia (34.8%). Five patients (10.9%) presented normal ocular evaluation in both eyes. A pathogenic mutation different from those published in other studies was found in one patient. Conclusions: Ocular abnormalities in Marfan´s syndrome are frequent. The better understanding of the FBN-1 gene and its expression in the eye are very helpful tools for the diagnosis and treatment of the abnormalitites.