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Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

Investigative ophthalmology & visual science - 1 Apr 2015

Fernandez-San Jose Patricia, Corton Marta, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Lopez-Martinez Miguel Angel, Sanchez-Navarro Iker, Sanchez-Alcudia Rocio, Perez-Carro Raquel, Zurita Olga, Sanchez-Bolivar Noelia, Lopez-Molina Maria Isabel, Garcia-Sandoval Blanca, Riveiro-Alvarez Rosa, Ayuso Carmen

Abstract excerpt

PURPOSE: Next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in retinal dystrophies, a group of inherited diseases that are highly heterogeneous. Therefore, the aim of this study is the application of an NGS-based approach in a Spanish cohort of autosomal dominant retinitis pigmentosa (RP) patients to find out causative mutations. METHODS: Index cases...

Topics

DNA
Female
Genes, X-Linked
High-Throughput Nucleotide Sequencing
Humans
Incidence
Male
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Retinitis Pigmentosa

Spain

Source

Identifiers

PMID: 25698705
DOI: 10.1167/iovs.14-16178

Genes

ABCA4
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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