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Article

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Investigative ophthalmology & visual science - 1 Dec 2015

Sun Wenmin, Huang Li, Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Gao Bei, Wang Panfeng, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

PURPOSE: To investigate mutations in 234 genes associated with retinal dystrophies in a cohort of 298 probands with early-onset high myopia using whole exome sequencing. METHODS: Genomic DNA from 298 probands with early-onset high myopia was analyzed by whole exome sequencing. Variants from 234 genes were selected and analyzed by multistep bioinformatics analyses. RESULTS: Systematic analysis of variants in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26747767
DOI: 10.1167/iovs.15-17555

Genes

FBN1
GNAT1
OPA1
PAX2
PRPH2
RPGR
TSPAN12

Provenance

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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