[Congenital lens malformations]

Abstract

Congenital malformations of the eye lens encompass a broad spectrum of developmental disorders, including lens opacities (congenital cataract), shape abnormalities, and dislocation (lens luxation). The vast majority of these malformations are genetically determined and can occur either in isolation or as part of complex syndromes. Modern molecular genetic diagnostic methods now enable the identification of underlying genetic causes in many patients, allowing for prognostic assessments and insights into potential comorbidities. This article provides an overview of the different forms of congenital lens malformations, their genetic causes, and the significance of molecular genetic diagnostics for the clinical care of affected patients.