Genotype-Phenotype Correlations in Syndromic Forms of Hereditary Retinal Diseases

Abstract

The aim of this thesis is to present a detailed assessment of the phenotypes and genotypes of rare retinal dystrophies with systemic associations (syndromes). Additionally, an in-depth analysis and discussion of two ultra-rare syndromes, Cohen syndrome and Alström syndrome is given. Precise knowledge of genotypes and related phenotypes is important in such rare diseases to allow for correct diagnosis by targeted laboratory and clinical diagnostic procedures. Correct diagnosis of rare hereditary retinal diseases early in life of affected patients also supports the effective use of future therapies that are arriving already in a multitude of clinical trials presently going on in ophthalmology, using gene replacement therapy, CRISPR/Cas9 methods, stem cells and optogenetics.