Identification of Three ABCA4 Sequence Variations Exclusive to African American Patients in a Cohort of Patients With Stargardt Disease – Corrected Proof

Purpose: To describe the clinical and molecular findings in ten unrelated African American patients with Stargardt disease.Design: Retrospective, observational case series.Methods: We reviewed the clinical histories, examinations, and genotypes of 85 patients with molecular diagnoses of Stargardt disease. Three ABCA4 sequence variations identified exclusively in African Americans were evaluated in 300 African American controls and by in silico analysis.Results: ABCA4 sequence changes were identified in 85 patients from 80 families, of which 11 patients identified themselves as African American. Of these 11 patients, 10 unrelated patients shared 1 of 3 ABCA4 sequence variations: c.3602T>G (p.L1201R); c.3899G>A (p.R1300Q); or c.6320G>A (p.R2107H). The (Read more...)

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