Angeborene Fehlbildungen der Linse

Angeborene Fehlbildungen der Augenlinse umfassen ein breites Spektrum von Entwicklungsstörungen, darunter Linsentrübungen (kongenitale Katarakt), Formveränderungen und Lageanomalien (Linsenluxation). Die überwiegende Mehrheit dieser Fehlbildungen ist genetisch bedingt und kann sowohl isoliert als auch im Rahmen komplexer Syndrome auftreten. Durch die modernen molekulargenetischen Diagnostikmethoden können die zugrunde liegenden genetischen Ursachen heute bei vielen Patienten identifiziert werden, was eine Aussage zu Prognose und möglichen Komorbiditäten zulässt.

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.

Schlüsselwörter

kongenitale Katarakt - ectopia lentis - Mikrosphärophakie - Linsenfehlbildung - Kinderophthalmologie - Ophthalmogenetik

Keywords

congenital cataract - ectopia lentis - microspherophakia - lens deformity - pediatric ophthalmology - ophthalmogenetics

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