title: [Progress in gene studies of hereditary retinal diseases].
abstract: Hereditary retinal diseases (HRDs), including retinitis pigmentosa, Leber's congenital amaurosis, congenital stationary night blindness, vitelliform macular dystrophy, Stargardt macular dystrophy, etc., are the most common and severe hereditary ocular diseases, which are closely associated with blindness. With the accomplishment of human genome project and the widespread application of genetic study techniques, the way leading to understanding of gene mutations of HRDs has been paved. Many encouraging breakthroughs of gene therapy studies have been made. Among them, the arrayed primer extension chip (Apex) technology greatly improved the efficiency of mutant gene screening of HRDs. Till now, 46 pathogenic genes and 2497 mutation loci have been identified to be related to HRDs. Gene therapy is one of the key treatments for HRDs. The disease causing mutant gene must be detected before the application of gene therapy. This paper reviews the latest progress in the study of gene mutations in HRDs.
authors.affiliation: Eye Hospital, Wenzhou Medical College, Wenzhou 325027, China. drlws@163.net
authors.forename: Wen-sheng
authors.initials: WS
authors.lastname: Li
authors.forename: Qin-xiang
authors.initials: QX
authors.lastname: Zheng
authors.forename: Fan-sheng
authors.initials: FS
authors.lastname: Kong
authors.forename: Ji-jing
authors.initials: JJ
authors.lastname: Pang
mesh_terms: D004252:DNA Mutational Analysis; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D012164:Retinal Diseases / Q000235:genetics*