Retinal Diseases with Ciliopathies

Ciliopathies are a group of diseases that affects cells containing the cilia organel. Retinal involvement is frequent in ciliopathies. The outer segment of retinal photoreceptors is composed of cilium. Functional defects limited to the photoreceptors cilia in particular are classified as non-syndromic ciliopathies like Leber congenital amarousis and retinitis pigmentosa. Photoreceptor disease also manifests as a part of syndromic ciliopathies with involvement of multiple tissues as in Usher syndrome, Joubert syndrome, Meckel-Gruber syndrome, Senior-Loken syndrome, Sjögren-Larsson syndrome, Bardet-Biedl syndrome and Alstrom syndrome. Underlying mechanisms of pathology remain largely unclear in these diseases. Symptoms are treated using current methods. This paper describes the pathogenesis, clinics, diagnosis and treatment of retinal diseases occuring due to ciliopathy.