title: Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.
abstract: OBJECTIVE
  To characterize the ophthalmological features and clinical course of an autosomal dominant cone-rod dystrophy (CORD2) in a Japanese family with an Arg41Trp mutation in the CRX gene.
  
  
  METHODS
  Mutation screening by direct sequencing was performed on 42 patients with cone-rod dystrophy. The clinical features of the patients were characterized by the visual acuity and by the findings of slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing.
  
  
  RESULTS
  An Arg41Trp mutation in the CRX gene was identified in three members from three generations of one family with cone-rod dystrophy. Fundus examination demonstrated that the retinal dystrophy worsened with increasing age.
  
  
  CONCLUSIONS
  A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients. Clinical examination of patients of different ages demonstrated that there was a rapid progressive worsening of the disease with increasing age.
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan. ita@oph.med.tohoku.ac.jp.
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Itabashi
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Wada
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Sato
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kunikata
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kawamura
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Tamai
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017949:Retinal Cone Photoreceptor Cells; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017948:Retinal Rod Photoreceptor Cells; D015534:Trans-Activators / Q000235:genetics*; D014364:Tryptophan; D014794:Visual Fields
chemical_list: D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein; D014364:Tryptophan; D001120:Arginine