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Genetic Diseases of the Eye

Many — eye diseases are caused by mutations in specific genes. Recently, specific gene mutations have been considered either “responsible” for the occurrence of eye disease or responsible for modifying the likelihood and severity of other eye diseases.
Developments in the area of applied ocular genetics are continuous. With regard to documented genetic eye diseases such as retinitis pigmentosa, Stargardt’s disease, etc., the mapping of responsible gene mutations enables thorough genetic family counseling and prenatal diagnosis, if this is requested by the family.


Regarding the “etiological” “cause-cure” treatment of these diseases, meaning the application of gene therapy, we have very important developments. A necessary prerequisite for the implementation of such a treatment is the knowledge of the specific mutation which causes the specific disease in each patient.