Navegando por Palavras-chave "eye diseases"

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    Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation
    (Assoc Research Vision Ophthalmology Inc, 2017) Salles, Mariana Vallim [UNIFESP]; Motta, Fabiana Louise [UNIFESP]; da Silva, Elton Dias [UNIFESP]; Varela, Patricia [UNIFESP]; Costa, Karita Antunes; Filippelli-Silva, Rafael [UNIFESP]; Martin, Renan Paulo [UNIFESP]; Chiang, John (Pei-Wen); Pesquero, Joao Bosco [UNIFESP]; Ferraz Sallum, Juliana Maria [UNIFESP]
    PURPOSE. To analyze the presence of complex alleles of the ABCA4 gene in Brazilian patients with Stargardt disease and to assess the correlation with clinical features. METHODS. This was an observational cross-sectional study. Patients with a diagnosis of Stargardt disease who presented three pathogenic variants of the ABCA4 gene or who had variants previously described as complex alleles were included. The relatives of these probands were evaluated in the segregation analysis. The patients were evaluated based on age at symptom onset and visual acuity, and the clinical characteristics were classified according to the findings observed on autofluorescence examination. RESULTS. Among the 47 families analyzed, approximately 30% (14/47) presented complex alleles. The segregation analysis in 14 families with cases of Stargardt disease identified three novel complex alleles and one previously described complex allele. The known complex allele p.[Leu541Pro; Ala1038Val] was identified in two families. The novel complex alleles identified were p.[Leu541Pro; Arg1443His] in five families, p.[Ser1642Arg; Val1682 Val1686-dell in seven families, and p. [Pro1761Arg; Arg2106Cys] in one family. Furthermore, four new variants (p.Lys22Asn, p.Asp915Asn, p. Glu1447Val, and p. Pro1761Arg) were identified in the second allele of the ABCA4 gene. CONCLUSIONS. Segregation analysis is important in order to confirm the molecular diagnosis of patients with Stargardt disease, given the frequency of complex alleles in the ABCA4 gene. The various pathogenic variation combinations observed in this study were associated with different phenotypes.
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    Retinopathy and survival in a population without diabetes the beaver dam eye study
    (Oxford Univ Press Inc, 2007-09-15) Hirai, Flávio Eduardo [UNIFESP]; Moss, Scot E.; Knudtson, Michael D.; Klein, Barbara E. K.; Klein, Ronald; Univ Wisconsin; Universidade Federal de São Paulo (UNIFESP)
    Retinopathy is relatively common in nondiabetic populations, and its long-term prognostic implications are not certain. for this reason, the authors hypothesized that retinal alterations were associated with all-cause and cause-specific mortality in nondiabetic individuals participating in the Beaver Dam Eye Study in Wisconsin. Included in the analysis were 4,294 nondiabetic subjects aged 43-84 years examined at baseline (1988-1990). Retinopathy was classified into four groups by using retinal photographs: 1) no retinopathy, 2) presence of retinal hemorrhages only, 3) presence of retinal microaneurysms only, and 4) presence of moderate or worse retinopathy. the authors analyzed survival during 14 years of follow-up and in 5-year intervals by using time-varying covariates. Baseline prevalence of retinopathy was 7.7%. Adjusting for age, sex, and significant confounders, they observed that moderate retinopathy at baseline was associated with all-cause (hazard ratio = 1.76, 95% confidence interval: 1.16, 2.69) and ischemic heart disease (hazard ratio = 3.17, 95% confidence interval: 1.73, 5.78) mortality after 14 years of follow-up. in the 5-year-interval analysis, the presence of hemorrhages only was significantly related to increased all-cause (hazard ratio = 1.49, 95% confidence interval: 1.05, 2.12) and ischemic heart disease (hazard ratio = 2.43, 95% confidence interval: 1.48, 4.01) mortality. Study results suggest that retinal changes have possible prognostic implications regarding survival of persons without diabetes.