Abstract

SO.03.02

Molecular genetic findings to improve diagnosis in corneal dystrophy patients with unique or rare phenotypes

Claudia Grünauer-Kloevekorn
Universitäts-Augenklinik, Martin-Luther-Universität Halle-Wittenberg, Halle/Saale

It is a challenge to classify and to plan therapeutic procedures in some special cases of hereditary corneal dystrophy with unique or rare phenotypes. In late onset subtypes additional histopathology lacks due to unperformed penetrating keratoplasty.
Molecular genetic opportunities are reported to classify unique or rare subtypes and to integrate them into the established classification of corneal dystrophies, furthermore how to carry out molecular genetics in cases of new detected genotypes and to separate them from non pathological polymorphisms.
Based on the molecular genetic results and the phenotypical classification improvement of choice of surgical opportunities should be demonstrated.

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