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Article

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study.

Orphanet journal of rare diseases - 17 Oct 2024

Fehér Tamás, Széll Noémi, Nagy István, Maróti Zoltán, Kalmár Tibor, Sohajda Zoltán, Barboni Mirella T S

Abstract excerpt

BACKGROUND: Myopia-26, a Mendelian form of early-onset high-myopia (eoHM) caused by mutations in the X-chromosomal ARR3 gene and predominantly affecting females, curiously, may provide an alternative route of investigation to unveil retinal mechanisms underlying pathological eye growth. We conducted a case-control cross-sectional prospective electrophysiological study in genetically characterized Myopia-26...

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Identifiers

PMID: 39420435
DOI: 10.1186/s13023-024-03390-9
PMCID: PMC11488070

Genes

ARR3
ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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