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Article

A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.

Journal of cellular and molecular medicine - 1 Nov 2018

Fu Jiewen, Ma Lu, Cheng Jingliang, Yang Lisha, Wei Chunli, Fu Shangyi, Lv Hongbin, Chen Rui, Fu Junjiang

Abstract excerpt

Retinal dystrophy is an inherited, heterogeneous, chronic and progressive disorder of visual functions. The mutations of patients with autosomal recessive retinal retinopathy cone-and-rod dysfunction and macular dystrophy have not been well described in the Chinese population. In this study, a three-generation Chinese retinal dystrophy family was recruited. Ophthalmic examinations were performed. Targeted next...

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Identifiers

PMID: 30160356
DOI: 10.1111/jcmm.13841
PMCID: PMC6201214

Genes

CDHR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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