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Clinical Case Reports
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Clinical Case Reports
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Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report

descriptionPublicationkeyboard_double_arrow_right Article 01 May 2025 English Publisher:WileyJournal:Clinical Case Reports, volume 13 (issn: 2050-0904, eissn: 2050-0904, Copyright policy )
Authors: Sarah A. M. Lucas; Elena Franco; Hannah L. Scanga; Nathan L. Clark; Ken K. Nischal;

doi: 10.1002/ccr3.70286

pmid: 40330260

pmc: PMC12053145

Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report

Abstract

ABSTRACT Congenital aphakia is a rare eye condition in which the lens fails to form properly. It is typically caused by pathogenic variants within the FOXE3 or HCCS genes; however, it can also be associated with GJA8 pathogenic variants. GJA8 should be included in the genetic testing of patients with this condition.

Related Organizations
Keywords

GJA8, Medicine (General), R5-920, R, Medicine, congenital corneal opacities, Case Report, ocular genetics, congenital aphakia, genetic corneal disease

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    popularity
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    influence
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Green
gold