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

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...

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Bibliographic Details
Published in:Invest Ophthalmol Vis Sci
Main Authors: Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Format: Artigo
Language:Inglês
Published: The Association for Research in Vision and Ophthalmology 2016
Subjects:
Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4788094/
https://ncbi.nlm.nih.gov/pubmed/26962691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-18702
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