An overview is given about the groups of retinal dystrophies and their genetic causes, inheritance patterns etc. Recommendations for the consulting and diagnostics of these patients are given, including diagnostics equipment and patient organizations, as well as networks of health care professionals in rare retinal diseases.

The webinar presents the typical phenotype of retinitis pigmentosa, syndromic and non-syndromic forms, its diagnostics and current gene therapy including post-approval experiences with RPE65 gene therapy.

The webinar presents the most common genetic diseases of the retina presenting with first symptoms in childhood or teenage; typical phenotypes and disease courses, diagnostics and therapy approaches of: LCA/EORD, achromatopsia, XL-retinoschisis, juvenile macular degeneration (Stargardt), evtl. foveal aplasia/hypoplasia.

An overview is given of functional diagnostics of retina for differential diagnostics of IRDs. Introduction and examples are given for BCVA, color and contrast vision, perimetry, microperimetry, dark adaptation and dark adapted perimetry, electroretinography, pupillometric methods.

An overview is given of retinal imaging for differential diagnostics of IRDs. Introduction and examples are given for retinal photography including red-free images, IR-imaging, autofluorescence imaging, OCT.

The webinar explains basics of genetic diagnostics, interpretation of mutations and variant classes and reporting of a genetic finding in genetic retinal diseases. The webinar should provide an insight into genetic testing and its interpretation for ophthalmologists.