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.

Keywords

• congenital aphakia
• congenital corneal opacities
• genetic corneal disease
• GJA8
• ocular genetics