Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

ABSTRACT:

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 variants. Sc

SUBMITTER: Riveiro-Alvarez R 

PROVIDER: S-EPMC3808491 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature