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Der Ophthalmologe

, Volume 104, Issue 7, pp 559–565 | Cite as

Genetische Untersuchungen bei kongenitaler Katarakt

  • B. LorenzEmail author
Leitthema

Zusammenfassung

Die beidseitige kongenitale Katarakt ist in mindestens 25% genetisch bedingt, die einseitige meist sporadisch. Die Genetik ist extrem heterogen – derzeit sind über 30 Gene identifiziert. Klinisch werden Phänotypen nach Lage und Form der Trübungen beschrieben, wobei Mutationen im gleichen Gen unterschiedliche Phänotypen erzeugen können (klinische Heterogenität) und Mutationen in unterschiedlichen Genen ähnliche Phänotypen (genetische Heterogenität). Der Erbgang ist meist autosomal-dominant, aber auch autosomal-rezessive und X-chromosomale Formen werden beobachtet. Die Expressivität kann variabel und die Penetranz reduziert sein, und bei X-chromosomalen Katarakten können Konduktorinnen Minorvarianten aufweisen. Deshalb sind eine genaue Stammbaumerhebung und Familienuntersuchung für die korrekte humangenetische Beratung essenziell. Metabolische Formen werden laborchemisch diagnostiziert. Eine molekulargenetische Untersuchung wird derzeit routinemäßig nur für wenige Gene angeboten.

Schlüsselwörter

Kongenitale Katarakt Erbgang Molekulargenetik Genotyp – Phänotyp Syndromale Katarakt 

Genetic examination in cases of congenital cataract

Abstract

Bilateral congenital cataract is genetic in at least 25% of cases. In contrast, unilateral congenital cataract is usually sporadic. Genetic heterogeneity is significant with the involvement of more than 30 genes having been identified to date. Phenotypes are defined by the location and morphology of the lens opacities. Mutations in the same gene may result in different phenotypes (clinical heterogeneity), and mutations in different genes may be associated with similar phenotypes (genetic heterogeneity). The mode of inheritance is mostly autosomal dominant but autosomal recessive and X-linked modes also occur. Expressivity may be variable and penetrance reduced. In X-linked cataract, carriers may show carrier signs. A precise pedigree analysis and a clinical examination of further family members are mandatory for correct genetic counselling. Metabolic cataract may be diagnosed biochemically. Molecular genetic analysis is not offered routinely to date with the exemption of a few genes.

Keywords

Congenital cataract Inheritance Molecular genetics Genotype – phenotype Syndromic cataract 

Notes

Interessenkonflikt

Es besteht kein Interessenkonflikt. Der korrespondierende Autor versichert, dass keine Verbindungen mit einer Firma, deren Produkt in dem Artikel genannt ist, oder einer Firma, die ein Konkurrenzprodukt vertreibt, bestehen. Die Präsentation des Themas ist unabhängig und die Darstellung der Inhalte produktneutral.

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Copyright information

© Springer Medizin Verlag 2007

Authors and Affiliations

  1. 1.Abt. für Kinderophthalmologie, Strabismologie und OphthalmogenetikKlinikum der Universität RegensburgRegensburgDeutschland

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