Navegando por Palavras-chave "Eye abnormalities"

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    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.
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    Síndrome de Fraser: relato de caso
    (Conselho Brasileiro de Oftalmologia, 2008-04-01) Saraceno, Janaína [UNIFESP]; Lopes, Tâmara; Pinheiro, Regina Helena Rathsam; Lima, Humberto Castro; Chaves, Alessandra Pinheiro [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); clínica Day Horc; Escola Bahiana de Medicina e Saúde Pública; Fundação Bahiana Para o Desenvolvimento das Ciências
    Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). RMSA, female, 3 m.o., evaluated in the general clinic of the Instituto Brasileiro de Oftalmologia e Prevenção à Cegueira. Child of consanguineous parents. The same finding was observed in an uncle and one of her brothers. Her physical examination showed total unilateral cryptophthalmos (right side), depressed nasal bridge, low set ears, atresia of the external auditory canal, enlarged clitoris, prominent labia majora and syndactyly of the fingers and toes. Ultrasonography of the abdomen showed renal agenesis (left side). Ocular ultrasonography showed a reduced anterior-posterior ocular diameter, anterior segment disorganization, absence of the lens and total retinal detachment in the right eye. The pathogenesis of cryptophthalmia has not as yet been determined, but consanguinity has been reported by many authors as a very important factor. Doctors should be attentive to the clinical findings and the correct diagnosis in order to offer these patients a thorough follow-up and realistic genetic counseling to their parents.