Congenital Aphakia Associated With a <scp> <i>GJA8</i> </scp> Pathogenic Variant: A Case Report
Congenital aphakia is a rare eye condition in which the lens fails to form properly. It is typically caused by pathogenic variants within the <i>FOXE3</i> or <i>HCCS</i> genes; however, it can also be associated with <i>GJA8</i> pathogenic variants. <i>GJA8</i> should be included in the genetic testing of patients with this condition.
Authors
- Ken K. Nischal (ORCID: https://orcid.org/0000-0001-5616-5275)
- Hannah L. Scanga (ORCID: https://orcid.org/0000-0002-4004-3959)
- Sarah Lucas (ORCID: https://orcid.org/0000-0002-2832-044X)
- Nathan L Clark (ORCID: https://orcid.org/0000-0003-0006-8374)
- Elena Franco (ORCID: https://orcid.org/0000-0002-3521-4290)
Institutions
- University of Pittsburgh (US)
- University of Utah (US)
- Children's Hospital of Pittsburgh (US)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1002/ccr3.70286
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Eye and Ear Foundation of Pittsburgh
- Research to Prevent Blindness
- University of Utah
- National Institutes of Health
- National Eye Institute