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Article

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

Investigative ophthalmology & visual science - 1 Mar 2016

Beryozkin Avigail, Levy Gal, Blumenfeld Anat, Meyer Segev, Namburi Prasanthi, Morad Yair, Gradstein Libe, Swaroop Anand, Banin Eyal, Sharon Dror

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous hereditary retinal diseases that result in blindness due to photoreceptor degeneration. Mutations in the rhodopsin (RHO) gene are the most common cause of autosomal dominant RP (adRP) and are responsible for 16% to 35% of adRP cases in the Western population. Our purpose was to investigate the contribution of RHO to adRP in...

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Identifiers

PMID: 26962691
DOI: 10.1167/iovs.15-18702
PMCID: PMC4788094

Genes

RHO

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