Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report
Sarah A. M. Lucas, Elena Franco, Hannah L. Scanga, Nathan L. Clark, Ken K. Nischal
TL;DR
This case report describes a rare eye condition caused by a genetic variant in GJA8, expanding the known genetic causes of congenital aphakia.
Contribution
The report highlights the importance of including GJA8 in genetic testing for congenital aphakia.
Findings
Congenital aphakia can be caused by a pathogenic variant in the GJA8 gene.
Including GJA8 in genetic testing improves diagnosis for patients with this condition.
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.
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Taxonomy
TopicsConnexins and lens biology · Intraocular Surgery and Lenses · Ocular Disorders and Treatments