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.
Marfan's syndrome; Eye abnormalities; Eye diseases
