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Article

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.

Investigative ophthalmology & visual science - 29 Aug 2011

Aleman Tomas S, Cideciyan Artur V, Aguirre Geoffrey K, Huang Wei Chieh, Mullins Cristina L, Roman Alejandro J, Sumaroka Alexander, Olivares Melani B, Tsai Frank F, Schwartz Sharon B, Vandenberghe Luk H, Limberis Maria P, Stone Edwin M, Bell Peter, Wilson James M, Jacobson Samuel G

Abstract excerpt

PURPOSE: To investigate the human disease due to CRB1 mutations and compare results with the Crb1-mutant rd8 mouse. METHODS: Twenty-two patients with CRB1 mutations were studied. Function was assessed with perimetry and electroretinography (ERG) and retinal structure with optical coherence tomography (OCT). Cortical structure and function were quantified with magnetic resonance imaging (MRI). Rd8 mice underwent...

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Identifiers

PMID: 21757580
DOI: 10.1167/iovs.11-7701
PMCID: PMC3176016

Genes

CRB1
ERG

Provenance

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