Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies: Retrospective Analysis in 420 Spanish Families – Corrected Proof

Objective: To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's disease (arSTGD), cone-rod dystrophy (arCRD), and retinitis pigmentosa (arRP), and to assess genotype-phenotype correlation and disease progression in 10 years by considering the type of variants and age at onset.Design: Case series.Participants: A total of 420 unrelated Spanish families: 259 arSTGD, 86 arCRD, and 75 arRP.Methods: Spanish families were analyzed through a combination of ABCR400 genotyping microarray, denaturing high-performance liquid chromatography, and high-resolution melting scanning. Direct sequencing was used as a confirmation technique for the identified (Read more...)

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