title: Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
abstract: Primary cilia are almost ubiquitously expressed in eukaryotic cells where they function as sensors relaying information either from the extracellular environment or between two compartments of the same cell, such as in the photoreceptor cell. In ciliopathies, a continuously growing class of genetic disorders related to ciliary defects, the modified primary cilium of the photoreceptor, also known as the connecting cilium, is frequently defective. Ciliary dysfunction involves disturbances in the trafficking and docking of specific proteins involved in its biogenesis or maintenance. The main well-conserved ciliary process, intraflagellar transport (IFT), is a complex process carried out by multimeric ciliary particles and molecular motors of major importance in the photoreceptor cell. It is defective in a growing number of ciliopathies leading to retinal degeneration. Retinitis pigmentosa related to ciliary dysfunction can be an isolated feature or a part of a syndrome such as Bardet-Biedl syndrome (BBS). Research on ciliopathies and BBS has led to the discovery of several major cellular processes carried out by the primary cilium structure and has highlighted their genetic heterogeneity.
authors.affiliation: Laboratoire de physiopathologie des syndromes rares et héréditaires, Strasbourg, France.
authors.forename: A
authors.initials: A
authors.lastname: Mockel
authors.forename: Y
authors.initials: Y
authors.lastname: Perdomo
authors.forename: F
authors.initials: F
authors.lastname: Stutzmann
authors.forename: J
authors.initials: J
authors.lastname: Letsch
authors.forename: V
authors.initials: V
authors.lastname: Marion
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
mesh_terms: D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000151:congenital; D002923:Cilia / Q000473:pathology*; D003072:Cognition Disorders / Q000209:etiology; D006801:Humans; D008954:Models, Biological; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology; D021381:Protein Transport; D058499:Retinal Dystrophies / Q000209:etiology*; D012243:Rhodopsin / Q000378:metabolism
chemical_list: D012243:Rhodopsin