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Article

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Ophthalmology - 1 Sept 2014

Tsang Stephen H, Burke Tomas, Oll Maris, Yzer Suzanne, Lee Winston, Xie Yajing Angela, Allikmets Rando

Abstract excerpt

OBJECTIVE: To report a new phenotype caused by mutations in the CRB1 gene in a family with 2 affected siblings. DESIGN: Molecular genetics and observational case studies. PARTICIPANTS: Two affected siblings and 3 unaffected family members. METHODS: Each subject received a complete ophthalmic examination together with color fundus photography, fundus autofluorescence (FAF), and spectral-domain optical coherence...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24811962
DOI: 10.1016/j.ophtha.2014.03.010
PMCID: PMC4145015

Genes

CRB1
ERG
RPE
ABCA4
PRPH2

Variants

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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