Article
[Ciliopathies].
Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2018
Gerth-Kahlert Christina, Koller Samuel
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Animals
- Antigens, Neoplasm
- Bardet-Biedl Syndrome
- Cell Cycle Proteins
- Cerebellum
- Cilia
- Ciliopathies
- Cytoskeletal Proteins
- DNA Mutational Analysis
- Diagnosis, Differential
- Disease Models, Animal