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Article

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

Orphanet journal of rare diseases - 5 Feb 2013

Corton Marta, Tatu Sorina D, Avila-Fernandez Almudena, Vallespín Elena, Tapias Ignacio, Cantalapiedra Diego, Blanco-Kelly Fiona, Riveiro-Alvarez Rosa, Bernal Sara, García-Sandoval Blanca, Baiget Montserrat, Ayuso Carmen

Abstract excerpt

BACKGROUND: CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and cone-rod dystrophies. Comprehensive mutational scanning of the whole gene has been only performed in few cohorts, mainly in LCA patients. Here, we aimed investigating the real prevalence...

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Identifiers

PMID: 23379534
DOI: 10.1186/1750-1172-8-20
PMCID: PMC3637806

Genes

CRB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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