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Article

Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.

BMJ open ophthalmology - 24 May 2024

Ye Lu, Guo Yi-Ming, Cai Yi-Xin, Wei Junhan, Huang Juan, Bi Jiejing, Chen Ding, Li Fen-Fen, Huang Xiu-Feng

Abstract excerpt

PURPOSE: Myopia, especially high myopia (HM), represents a widespread visual impairment with a globally escalating prevalence. This study aimed to elucidate the genetic foundations associated with early-onset HM (eoHM) while delineating the genetic landscape specific to Shaanxi province, China. METHODS: A comprehensive analysis of whole-exome sequencing was conducted involving 26 familial trios displaying eoHM....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38789272
DOI: 10.1136/bmjophth-2024-001720
PMCID: PMC11129018

Genes

ARR3
NYX
P3H2
RP2
RPGR
TRPM1
VPS13B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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