Ciliopathy is a collection of disorders with similar phenotyp whose common pathogenetic feature a disorder of the cellular cilium morphologically or functionally.
Ciliopathies may show retinal dystrophy of various degrees of severity.
Tan MH et al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.[^]
Habbig S et al. (2015) Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function.[^]
Lee H et al. (2015) Primary cilia in energy balance signaling and metabolic disorder.[^]
Megaw RD et al. (2015) RPGR: Its role in photoreceptor physiology, human disease, and future therapies.[^]
Falk N et al. (2015) Specialized Cilia in Mammalian Sensory Systems.[^]
Brown JM et al. (2014) Cilia and Diseases.[^]
Praveen K et al. (2015) Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.[^]
Szymanska K et al. (2014) Unraveling the genetics of Joubert and Meckel-Gruber syndromes.[^]
Orphanet articleOrphanet ID 363250 [^]
Wikipedia articleWikipedia EN (Ciliopathy) [^]