title: Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies.
abstract: Outer retinal dystrophies are the major causes of incurable blindness in the Western world. Understanding the etiology of retinal dystrophies has improved remarkably over the past decade. A number of genes, such as RHO, PDE-beta, RDS, TIMP3, MYO7A, RETGC1, RPGR, CRX and ABCR, are now known to be particularly important. Characterization of the genetic basis for disease is leading to new concepts of pathogenesis at the molecular and cellular levels. Such detailed understanding of disease processes is also stimulating a renewed interest in therapeutic strategies.
authors.affiliation: Department of Molecular Genetics, Institute of Ophthalmology (University College London) UK. kevans@hgmp.mrc.ac.uk
authors.forename: K
authors.initials: K
authors.lastname: Gregory-Evans
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D017209:Apoptosis; D001766:Blindness / Q000235:genetics*; D006801:Humans; D010786:Photoreceptor Cells / Q000737:chemistry / Q000502:physiology*; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics* / Q000503:physiopathology*; D015398:Signal Transduction