Autofluorescence Imaging and Phenotypic variance in a Sibling pair with Early Onset Retinal Dystrophy due to defective CRB1 function

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 pol...

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Bibliographic Details
Main Authors: Tosi, Joaquin, Tsui, Ilene, Lima, Luiz, Wang, Nan Kai, Tsang, Stephen H.
Format: Artigo
Language:Inglês
Published: 2009
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2717950/
https://ncbi.nlm.nih.gov/pubmed/19401883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/02713680902859639
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