Navegando por Palavras-chave "Retinal degeneration"

Agora exibindo 1 - 3 de 3
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Classificação diagnóstica dos portadores de doenças degenerativas de retina, integrantes dos grupos Retina São Paulo e Retina Vale do Paraíba
    (Conselho Brasileiro de Oftalmologia, 2003-08-01) Unonius, Nichard [UNIFESP]; Farah, Michel Eid [UNIFESP]; Sallum, Juliana Maria Ferraz [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    PURPOSE: To organize a regional data bank of all individuals that have retinal degenerative diseases, with the aim to classify each patient according to the type of distrophy and pattern of inheritance. METHODS: During the meeting of the São Paulo Retina Group on May 5th, 2001, two hundred and forty-three persons were registered, part of whom provided information concerning ocular, personal and family history and family tree. Ninety-three patients were asked about age, origin, type of dystrophy, family history and family tree information, type of inheritance, other systemic abnormalities and complementary examination. They were classified according to the diagnosis and pattern of inhe-ritance. RESULTS: The distrophies found in the registered two hundred and forty-three patients, were: retinitis pigmentosa, Stargardt disease, Usher syndrome, Leber congenital amaurosis and choroideremia. Of the ninety-three patients examined on the same day, sixty-two had retinitis pigmentosa, thirteen had Stargardt disease, thirteen had Usher syndrome, three had Leber congenital amaurosis and two had choroideremia. The inheritance pattern of the patients with retinitis pigmentosa was autosomal dominant in 4 cases (7%), autosomal recessive in twenty cases (32%), X-linked recessive in 7 cases (11%). Twenty-nine cases were isolated (47%) and two had an indeterminate pattern of inheritance (3%). Of the Stargardt disease patients, three (23%) were autosomal recessive and ten (77%) were isolated cases. Of the thirteen patients with Usher syndrome, eight (61.5%) were autosomal recessive, four (31%) were isolated cases and one (7.5%) did not have a determined inheritance pattern. The two patients with choroideremia were X-linked recessive. In Leber congenital amaurosis one (33.5%) was autosomal recessive and two (66.5%) were isolated cases. CONCLUSION: This study highlights the importance of this classification as being the first reference of inheritance patterns of retinal distrophies in our country. This is the first step to further classify the genetic and molecular characteristics based on the sequencing of each gene that causes each inheritance pattern. The frequency of each disease is similar to that of the literature.
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Fundus flavimaculatus e neovascularização subretiniana: relato de caso
    (Conselho Brasileiro de Oftalmologia, 2005-04-01) Aragão, Ricardo Evangelista Marrocos De; Barreira, Ieda Maria Alexandre [UNIFESP]; Holanda Filha, Joana Gurgel; Universidade de Regensburg; Universidade Federal do Ceará Hospital Universitário Walter Cantídeo; Universidade Federal de São Paulo (UNIFESP); Universidade Federal do Ceará Hospital Universitário Walter Cantídeo Serviço de Oftalmologia
    Fundus flavimaculatus is a progressive, bilateral, hereditary retinal dystrophy characterized by ill-defined, yellowish, pisciform flecks at the level of the retinal pigment epithelium. Since the disease process is at level of the retinal pigment epithelium, it is not surprising that subretinal macular neovascularizations might occur. Nevertheless, they have been rarely reported as complications of the disease. The following report describes a case of fundus flavimaculatus that progressed with blurred vision by a subretinal macular neovascularization.
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
    (Conselho Brasileiro de Oftalmologia, 2009-10-01) Andrade, Luis Jesuino De Oliveira; Andrade, Rafael [UNIFESP]; França, Caroline Santos; Bittencourt, Alcina Vinhaes; Universidade Estadual de Santa Cruz Faculdade de Medicina; Universidade Federal de São Paulo (UNIFESP); Universidade Federal da Bahia Hospital Universitário Prof. Edgard Santos Serviço de Oftalmologia; UFBA
    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.