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• W2076831387 abstract "<h3>Purpose</h3> To assess the genotypic diversity in patients with Stargardt disease and to characterise epidemiological and genotypic predictors of phenotype. <h3>Methods</h3> Retrospective, cross-sectional study of 112 patients with Stargardt disease. We evaluated the correlation between age at presentation, best-corrected visual acuity (BCVA), and <i>ABCA4</i> genotypes. <h3>Results</h3> Mean age at presentation was 30±16 years (range 6–78 years) for the 112 patients of 104 families. 98 of 90 families had a probable molecular diagnosis. We found that BCVA is not related to age of presentation in a linear or polynomial manner; that BCVA of patients presenting in the first decade was significantly worse than those presenting in later decades (p=0.04); that patients who harboured two or more mutations presented earlier and had worse BCVA than those with no or 1 mutation identified by any method of testing (n=112, p=3.29×10⁻⁶) or by full sequencing (n=32, p=0.02); that 16 patients with c.5882G>A allele demonstrated better BCVA than the remaining patients (p=0.01); and that 10 patients with the c.5461-10T>C mutation presented earlier (p=0.02×10⁻⁵) and had more severe disease. <h3>Conclusions</h3> Epidemiological and genotypical findings portend visual prognosis in patients with Stargardt disease. Select sequence variations in <i>ABCA4</i> may confer a specific phenotype. The present data will help in assessing patients for emerging therapies." @default.
• W2076831387 created "2016-06-24" @default.
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• W2076831387 date "2014-01-23" @default.
• W2076831387 modified "2023-10-17" @default.
• W2076831387 title "Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease" @default.
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• W2076831387 doi "https://doi.org/10.1136/bjophthalmol-2013-304270" @default.
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