Gerth-Kahlert C Koller S 2018 Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most severe type of retinal dystrophy: Leber's congenital amaurosis (LCA). The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome. Molecular-genetic analysis revealed a large number of cilia genes with a high phenotype heterogeneity. Diagnosis of ciliopathies require a multi-disciplinary approach. Causative treatment of ciliopathies is not yet available; therefore, rehabilitative and supportive treatment is mandatory. https://sonar.ch/global/documents/219731 eng info:eu-repo/semantics/altIdentifier/doi/10.1055/a-0573-9199 info:eu-repo/semantics/altIdentifier/pmid/29534263 Klinische Monatsblatter fur Augenheilkunde. - 2018 Abnormalities, Multiple Animals Antigens, Neoplasm Bardet-Biedl Syndrome Cerebellum Cilia Ciliopathies DNA Mutational Analysis Diagnosis, Differential Disease Models, Animal Eye Abnormalities Eye Proteins Genetic Association Studies Genetic Diseases, X-Linked Genotype Humans Kidney Diseases, Cystic Leber Congenital Amaurosis Mice Microtubule-Associated Proteins Myosin VIIa Myosins Neoplasm Proteins Optic Atrophies, Hereditary Proteins Retina Retinal Dystrophies Retinitis Pigmentosa Usher Syndromes [Ciliopathies]. http://purl.org/coar/resource_type/c_6501