CEP290-related ciliopathy

CEP290-related ciliopathy is a condition that affects the tiny structures in cells called cilia. Cilia are important for many body systems, and when they do not work properly, it can lead to a range of health challenges. This condition is caused by changes in both copies of the CEP290 gene. It is known by several names, including CEP290 ciliopathy, Bardet-Biedl syndrome 14, Joubert syndrome 5, Leber congenital amaurosis 10, Meckel syndrome 4, Senior-Loken syndrome 6, among others.

Information about symptoms is currently limited for this condition.

CEP290-related ciliopathy is caused by genetic changes. These biallelic variants in the CEP290 gene mean that changes are present in both copies of the gene. This genetic cause is key to the development of this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.