title: Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
abstract: Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Seventeen different genes with more than 360 different mutations and more than 670 affected alleles have been associated with CSNB, including genes coding for proteins of the phototransduction cascade, those important for signal transmission from the photoreceptors to the bipolar cells or genes involved in retinoid recycling in the retinal pigment epithelium. This article describes the phenotypic characteristics of different forms of CSNB that are necessary for accurate diagnosis and to direct and improve genetic testing. An overview of classical and recent methods used to identify specific CSNB genotypes is provided and a meta-analysis of all previously published and novel data is performed to determine the prevalence of disease-causing mutations. Studies of the underlying molecular pathogenic mechanisms based on cell culture techniques and animal studies are outlined. The article highlights how the study of CSNB has increased understanding of the mechanisms of visual signalling in the retina, likely to prove important in developing future treatments for CSNB and other retinal disorders.
authors.affiliation: INSERM, US968, Paris, F-75012, France; CNRS, UMR_7210, Paris, F-75012, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris, F-75012, France. Electronic address: christina.zeitz@inserm.fr.
authors.forename: Christina
authors.initials: C
authors.lastname: Zeitz
authors.affiliation: Moorfields Eye Hospital, 162 City Road, London, EC1V 2PD, UK; Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.
authors.forename: Anthony G
authors.initials: AG
authors.lastname: Robson
authors.affiliation: INSERM, US968, Paris, F-75012, France; CNRS, UMR_7210, Paris, F-75012, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris, F-75012, France; Institute of Ophthalmology, University College London, London, EC1V 9EL, UK; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU ViewMaintain, INSERM-DHOS CIC 1423, Paris, F-75012, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Audo
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D005136:Eye Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D015316:Genetic Therapy / Q000379:methods; D005838:Genotype; D006801:Humans; D009154:Mutation; D009216:Myopia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D010641:Phenotype
chemical_list: D005136:Eye Proteins
keywords: Animal models; Congenital stationary night blindness (CSNB); Diagnostics; Fundus albipunctatus; Molecular genetics; Oguchi disease; Pathophysiology; Prevalence; Protein function; Schubert-Bornschein