title: Clinical features of a Japanese case with Bothnia dystrophy.
abstract: OBJECTIVE
  Bothnia dystrophy is a variant of recessive retinitis punctata albescens (RPA) and is caused by a homozygous R234W mutation in the RLBP1 gene. We report the clinical features of a Japanese patient with the homozygous R234W mutation in the RLBP1 gene.
  
  
  METHODS
  An affected woman with RPA has been examined clinically for 25 years. Her DNA was obtained with informed consent, and the exons and surrounding areas of RDH5, rhodopsin, and RLBP1 were amplified by PCR and directly sequenced.
  
  
  RESULTS
  Our patient was first examined in our hospital in 1986 when she was 6 years old. Ophthalmoscopy showed numerous small white dots in the posterior pole of both eyes. Although the a- and b-waves of the single flash ERGs were severely reduced after a standard 30 min of dark-adaptation, the amplitudes of both waves increased markedly after 24 hr of dark-adaptation. The visual disturbances and visual field scotomas became more evident in her twenties, and her BCVAs were 0.2 OD and 0.5 OS when she was 31 years old in 2010. Fundus examinations showed macular degeneration in both eyes. A homozygous R234W mutation was detected in RLBP1, and no mutations were detected in RDH5 and rhodopsin.
  
  
  CONCLUSIONS
  The clinical characteristics of a Japanese patient with a homozygous R234W mutation in RLBP1 are very similar to that of Swedish patients with Bothnia dystrophy. The origin of the Japanese R234W mutation is probably not the same as that of the Swedish patients, but more likely due to the high incidence of C to T transitions.
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Nojima
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Hosono
authors.forename: Yang
authors.initials: Y
authors.lastname: Zhao
authors.forename: Takaaki
authors.initials: T
authors.lastname: Toshiba
authors.forename: Akiko
authors.initials: A
authors.lastname: Hikoya
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Asai
authors.forename: Masaru
authors.initials: M
authors.lastname: Kato
authors.forename: Mineo
authors.initials: M
authors.lastname: Kondo
authors.forename: Shinsei
authors.initials: S
authors.lastname: Minoshima
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hotta
mesh_terms: D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003623:Dark Adaptation; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007564:Japan; D020125:Mutation, Missense; D009755:Night Blindness / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics; D012243:Rhodopsin / Q000235:genetics; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology
chemical_list: C020932:11-cis-retinal-binding protein; D002352:Carrier Proteins; D012243:Rhodopsin; D000429:Alcohol Oxidoreductases; C105846:retinol dehydrogenase 5