Abstract

SO.02.03

Molecular genetic findings in patients with corneal dystrophies

Gruenauer-Kloevekorn C. 
Department of Ophthalmology, University of Halle

Due to different surgical options are available for the treatment of corneal dystrophies sufficient diagnosis is necessary to evaluate correct surgical procedure and outcome.
Traditionally, corneal dystrophies have been classified according to characteristic clinical and histopathologic features, such as the morphology of the deposits, the corneal layer involved and histochemical features. With the identification of the molecular genetic basis of most of the corneal dystrophies, the definitive diagnosis and classification of these inherited corneal disorders are progressively becoming dependent upon the molecular genetic analysis.
We report on mutational screening in patients with corneal dystrophies, especially the mutational spectrum in German patients with TGF-b1 linked and CHST6 linked corneal dystrophies and the genotype-phenotype-correlation in these groups of corneal dystrophies.

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