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Exome Sequencing RevealsAGBL5as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families

22 Dec 2015

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is the most common inherited retinal disease with high genetic heterogeneity and variable phenotypes. Characteristic symptoms include night blindness and progressive loss of visual field, leading to blindness. Mutations in >60 genes have been identified to date as causative for RP, and additional candidate genes are assumed. METHODS: To find the disease-causing mutations in the...

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PMID: 26720455
DOI: 10.1167/iovs.15-17473

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