title: [Genotype screening of retinal dystrophies in the Japanese population using a microarray].
abstract: OBJECTIVE
  To investigate the pathogenic variants of retinal dystrophies in the Japanese population using microarray analysis.
  
  
  METHODS
  DNA extracted from the blood samples of 84 families (87 patients) with retinal dystrophies (retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy and Bietti's crystalline retinopathy) was screened by Asper Biotech services. All the variants detected by microarray analysis were verified by direct sequencing.
  
  
  RESULTS
  Mutations were detected in 2 of 36 families with autosomal dominant retinitis pigmentosa, 2 of 4 with Leber congenital amaurosis, 11 of 24 with cone-rod dystrophy, 3 of 7 with macular dystrophy and 6 of 7 with Bietti's crystalline retinopathy.
  
  
  CONCLUSIONS
  Genotype screening using microarray analysis can be effectively used to determine the variants of retinal dystrophies, except retinitis pigmentosa, in the Japanese population.
authors: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Japan. kenboo@kuhp.kyoto-u.ac.jp
authors: Ken
authors: K
authors: Ogino
authors: Akio
authors: A
authors: Oishi
authors: Yukiko
authors: Y
authors: Makiyama
authors: Satoko
authors: S
authors: Nakagawa
authors: Masafumi
authors: M
authors: Kurimoto
authors: Atsushi
authors: A
authors: Otani
authors: Nagahisa
authors: N
authors: Yoshimura
mesh_terms: D044466:Asian People / Q000235:genetics*; D005838:Genotype; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics; D046228:Microarray Analysis / Q000379:methods; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics*