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

## 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.

## Key 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.