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 the cilium. Functional defects limited to the photoreceptors cilia, in particular, are classified as non-syndromic ciliopathies like Leber congenital amaurosis and retinitis pigmentosa. Photoreceptor disease also manifests as a part of syndromic ciliopathies with the involvement of multiple tissues as 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 occurring due to ciliopathy.
Bardet-Biedl Syndrome with Familial Retinitis Pigmentosa – A Case Report
