Navegando por Palavras-chave "Marfan's syndrome"
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- ItemAcesso aberto (Open Access)Anomalias oculares e características genéticas na síndrome de Marfan(Conselho Brasileiro de Oftalmologia, 2002-12-01) Sallum, Juliana Maria Ferraz [UNIFESP]; Chen, Jane [UNIFESP]; Perez, Ana Beatriz Alvarez [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)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.