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Article

Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.

Human mutation - 1 Mar 2022

van Mazijk Ralph, Haarman Annechien E G, Hoefsloot Lies H, Polling Jan R, van Tienhoven Marianne, Klaver Caroline C W, Verhoeven Virginie J M, Loudon Sjoukje E, Thiadens Alberta A H J, Kievit Anneke J A

Abstract excerpt

This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case series of three multigenerational families with high myopia (SER≤-6D), from the departments of Clinical Genetics and Ophthalmology of a tertiary Dutch hospital. Whole-exome sequencing (WES) with a vision-related gene panel was performed, followed by a full open...

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Identifiers

PMID: 35001458
DOI: 10.1002/humu.24327
PMCID: PMC9303208

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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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