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Article

Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

Current eye research - 1 May 2009

Tosi Joaquin, Tsui Ilene, Lima Luiz H, Wang Nan-Kai, Tsang Stephen H

Abstract excerpt

PURPOSE: To phenotype two siblings with autosomal recessive early-onset retinal dystrophy due to CRB1 mutations. METHODS: Autofluorescence (AF) imaging, high resolution optical coherence tomography (OCT), and full-field electroretinography (ERG) were performed. The results of DNA sequencing from polymerase chain reaction (PCR) products of the CRB1 gene were obtained from hospital records. RESULTS: Two siblings,...

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Identifiers

PMID: 19401883
DOI: 10.1080/02713680902859639
PMCID: PMC2717950

Genes

CRB1
RPE
ERG

Provenance

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