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Article

Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program.

Ophthalmology - 1 Jul 2025

Lee Kyoung A Viola, Aboobakar Inas F, Jain Ashish, Tesdahl Corey D, Jin Kimberly, Oke Isdin, Whitman Mary C

Abstract excerpt

PURPOSE: Amblyopia is characterized by decreased visual acuity due to abnormal visual experience during development. It affects approximately 3% of the population and is associated with abnormal development of the visual cortex. Despite treatment, many patients have residual visual acuity deficits. This study aimed to explore the genetic contributions to amblyopia. DESIGN: Case-control. PARTICIPANTS: The All of...

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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: 39842729
DOI: 10.1016/j.ophtha.2025.01.013
PMCID: PMC12182994

Genes

ALKBH8
CACNB2
CES5A
DCP1B
FSIP2
MPV17
NEU1
NMUR2
OR12D2
PCDHA4
PSMA7
ZNF654
ZNF831

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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