Genotype-Phenotype Correlations in Syndromic Forms of Hereditary Retinal Diseases

DSpace Repository

Show simple item record

dc.contributor.advisor Stingl, Katarina (Prof. Dr.) Nasser, Fadi 2021-11-18T15:39:22Z 2021-11-18T15:39:22Z 2021-11-18
dc.identifier.uri de_DE
dc.description.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. en
dc.language.iso de de_DE
dc.language.iso en de_DE
dc.publisher Universität Tübingen de_DE
dc.rights ubt-podok de_DE
dc.rights.uri de_DE
dc.rights.uri en
dc.subject.ddc 420 de_DE
dc.subject.ddc 430 de_DE
dc.title Genotype-Phenotype Correlations in Syndromic Forms of Hereditary Retinal Diseases en
dc.type PhDThesis de_DE
dcterms.dateAccepted 2021-10-12
utue.publikation.fachbereich Medizin de_DE
utue.publikation.fakultaet 4 Medizinische Fakultät de_DE
utue.publikation.noppn yes de_DE


This item appears in the following Collection(s)

Show simple item record