Lorenz B., Preising M.

Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, Klinikum of the University of Regensburg, D-93042 Regensburg, Germany

At the beginning of the 21st century, basic research in ophthalmogenetics has again been demonstrated to be highly justified. Using the knowledge of the genetic causes of hereditary retinal degenerations, it has been achieved for the first time to establish an effective gene therapy of a potentially blinding retinal disease in a higher vertebrate. Now that the method has shown proof of principle, a thorough evaluation of its applicability to other diseases and gene defects, the permanence of the effect, and the efficiency of the therapy at different stages of the various retinal degenerations is required. As science gets closer to its aim i.e. transfer of basic knowledge to therapeutic applications, the interest in broad genetic basic research is at risk to flag. This would be regrettable as despite significant progress in the definition of the causative genetic relationships ophthalmogenetics is still far from having solved all questions satisfactorily. New results such as unexpected non-allelic heterogeneity of certain paediatric retinal degenerations and RP forms clearly indicate the necessity of a new classification of the diseases taking into account the genetic causes. This introductory talk will give and discuss some examples.

Copyright © Deutsche Ophthalmologische Gesellschaft, 2001. All rights reserved.

Last updated: 

Webdesign: SPALLEK.COM