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Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.

Ophthalmic genetics - 1 Mar 2015

Yang Yezhen, Tian Di, Lee Janet, Zeng Jing, Zhang Huiming, Chen Siying, Guo Hui, Xiong Zhiming, Xia Kun, Hu Zhengmao, Luo Jing

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by night blindness, progressive peripheral visual field loss, and loss of central vision. Fifty-three RP pathogenic genes are responsible for RP. Pre-mRNA processing factor 31(PRPF31) gene is the third most common cause of autosomal dominant retinitis pigmentosa (adRP), and so far more than 40 mutations in PRPF31 have...

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Identifiers

PMID: 23834559
DOI: 10.3109/13816810.2013.809458

Genes

PRPF31

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