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Article

Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.

BMC research notes - 13 Feb 2016

Hasan Somar M, Azmeh Arwa, Mostafa Osama, Megarbane Andre

Abstract excerpt

BACKGROUND: Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, and retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features such as coat's like vasculopathy in retinitis pigmentosa patients. This is the first report of the occurrence of coat's like vasculopathy in a patient diagnosed with Leber congenital amaurosis caused by a...

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Identifiers

PMID: 26872607
DOI: 10.1186/s13104-016-1917-6
PMCID: PMC4752793

Genes

CRB1

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