Abstract

P 184

Mutation analysis in the VSX1 gene in 3 families with autosomal dominant inherited Fuchs endothelial corneal dystrophy

Clausen I.¹, Weidle E.², Bräutigam S.³, Froster U.³, Duncker G. I. W.¹, Grünauer-Kloevekorn C.^1
1Universitäts-Augenklinik der Martin-Luther-Universität, Halle; ²Augenklinik des Katharinenhospitals, Stuttgart; ³Institut für Humangenetik der Universität Leipzig

Objective: Fuchs endothelial corneal dystrophy is the most common disease of the corneal endothelium. In addition to sporadic cases an autosomal dominant inheritance is described. Mutations in the VSX1 gene are identified as the underlying gene defect for a rarer kind of endothelial dystrophy, the so called posterior polymorphous endothelial dystrophy. We report a mutation analysis of the VSX1 gene in affected and non affected family members of three families with autosomal dominant inherited Fuchs endothelial corneal dystrophy.
Methods: In 10 affected and 15 non affacted family members of three families with autosomal dominant inherited Fuchs endothelial corneal dystrophy DNA was extracted from leukocytes of the peripheral blood and mutation analysis was performed by direct sequencing of the VSX1 gene.
Results: Screening of the VSX1 gene did not reveal sequence variants in any affected or non affected individual from the three families with Fuchs endothelial corneal dystrophy.
Conclusions: The absence of pathogenic mutations identified in the VSX1 gene in affected family members of three pedigrees indicates that other genetic factors are involved in the development of familial Fuchs endothelial corneal dystrophy.

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