[Ciliopathies].
Copyright policy )[Ciliopathies].
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.
- University of Zurich Switzerland
- University Hospital of Zurich Switzerland
Genotype, DNA Mutational Analysis, Leber Congenital Amaurosis, Cell Cycle Proteins, Myosins, Retina, Diagnosis, Differential, Mice, Optic Atrophies, Hereditary, Antigens, Neoplasm, Cerebellum, Retinal Dystrophies, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Eye Proteins, Bardet-Biedl Syndrome, Genetic Association Studies, Proteins, Genetic Diseases, X-Linked, Kidney Diseases, Cystic, Ciliopathies, Neoplasm Proteins, Cytoskeletal Proteins, Disease Models, Animal, Myosin VIIa, Microtubule-Associated Proteins, Usher Syndromes, Retinitis Pigmentosa
Genotype, DNA Mutational Analysis, Leber Congenital Amaurosis, Cell Cycle Proteins, Myosins, Retina, Diagnosis, Differential, Mice, Optic Atrophies, Hereditary, Antigens, Neoplasm, Cerebellum, Retinal Dystrophies, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Eye Proteins, Bardet-Biedl Syndrome, Genetic Association Studies, Proteins, Genetic Diseases, X-Linked, Kidney Diseases, Cystic, Ciliopathies, Neoplasm Proteins, Cytoskeletal Proteins, Disease Models, Animal, Myosin VIIa, Microtubule-Associated Proteins, Usher Syndromes, Retinitis Pigmentosa
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