Rare retinal and eye diseases are often caused by genetic defects. Genetic screening (molecular diagnosis) allows these genetic defects to be detected in most patients. Genetic eye diseases include inherited retinal diseases (retinal dystrophies) such as macular dystrophies, Leber's congenital amaurosis, and retinitis pigmentosa, as well as a variety of inherited disorders of the optic nerve and anterior segment. Molecular diagnosis allows to support the clinical diagnosis, to determine the mode of inheritance and to assess the risk of disease in relatives. Genetic clarification may also have therapeutic consequences for some patients.
The University Department of Ophthalmology performs genetic workup of eye disorders in close collaboration with the Department of Human Genetics in the ISO/IEC 17025:2017 accredited Clinical Genomics Lab.