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Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.

Bioscience reports - 26 Jun 2020

Wei Chunli, Xiao Ting, Cheng Jingliang, Fu Jiewen, Zhou Qi, Yang Lisha, Lv Hongbin, Fu Junjiang

Abstract excerpt

As a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP family. In the present study, a large Chinese pedigree consisting of 31 members including a proband and another two patients was recruited; clinical examinations were conducted;...

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Identifiers

PMID: 32436957
DOI: 10.1042/BSR20193443
PMCID: PMC7268256

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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