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Article

A novel NYX gene mutation identified in a Chinese Northeast Han family with high myopia and night blindness.

BMC ophthalmology - 25 May 2026

Xu Xiaoyi, Zhang Liwen, Li Ying, Dai Lili, Xiao Zheng, Yao Dongqi

Abstract excerpt

OBJECTIVE: This study aimed to investigate the pathogenic gene mutation associated with high myopia and congenital stationary night blindness (CSNB) in a family from Northeast China. The objective was to clarify the underlying genetic basis and to determine the inheritance pattern of these ocular disorders. METHODS: Whole-exome sequencing was performed on the proband using the NovaSeq 6000 platform. Variants were...

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Source

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Identifiers

PMID: 42186038
DOI: 10.1186/s12886-026-04960-0
PMCID: PMC13390262

Genes

NYX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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