Hereditary retinal dystrophies represent a genetically and clinically heterogeneous group of diseases. A comprehensive characterization constitutes functional and high-resolution multimodal imaging. With the advent of novel treatment options the detection of the underlying gene causing the disease is becoming more important. Technical advances in molecular genetic diagnostics enable a classification of retinal dystrophies depending on the specific genetic cause of the disease, which is important particularly against the background of newly emerging therapy approaches. Targeted next generation sequencing (NGS), in particular is now an efficient method to accomplish this and can be especially helpful to identify rare and potentially new disease-causing variants. For the interpretation of the molecular genetic results a close collaboration between ophthalmologists and geneticists is essential.
Keywords: Fundus autofluorescence; Genetic disorders; Genotyping; Next generation sequencing; Phenotyping.