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Article

Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.

The British journal of ophthalmology - 1 Apr 2014

Miraldi Utz Virginia, Coussa Razek Georges, Marino Meghan J, Chappelow Aimee V, Pauer Gayle J, Hagstrom Stephanie A, Traboulsi Elias I

Abstract excerpt

PURPOSE: To assess the genotypic diversity in patients with Stargardt disease and to characterise epidemiological and genotypic predictors of phenotype. METHODS: Retrospective, cross-sectional study of 112 patients with Stargardt disease. We evaluated the correlation between age at presentation, best-corrected visual acuity (BCVA), and ABCA4 genotypes. RESULTS: Mean age at presentation was 30 ± 16 years (range...

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PMID: 24457364
DOI: 10.1136/bjophthalmol-2013-304270

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ABCA4

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