title: Macular dystrophy in a Japanese family with fundus albipunctatus.
abstract: OBJECTIVE
  To report a Japanese family with fundus albipunctatus and macular dystrophy associated with a mutation in the 11-cis retinol dehydrogenase (RDH5) gene.
  
  
  METHODS
  Observational case report.
  
  
  METHODS
  Ophthalmic examinations and DNA analysis were performed.
  
  
  RESULTS
  The fundi of a 56-year-old man and his 51-year-old sister showed numerous yellow-white punctata. He also had bull's-eye maculopathy and prepappillary arterial loops, whereas she did not, and his best-corrected visual acuity was impaired, whereas hers was normal. Their kinetic visual fields did, however, show central or paracentral scotoma, and both had tritanomalous color vision. Their scotopic electroretinograms were typical of fundus albipunctatus, and photopic electroretinograms were significantly reduced. A homozygous Gly107Arg mutation in the RDH5 gene was detected in both siblings.
  
  
  CONCLUSIONS
  We suggest that the macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.
authors.affiliation: Department of Ophthalmology, Kameda Medical Center, Kamogowa, Japan. kahotta@kameda.jp
authors.forename: Kazuki
authors.initials: K
authors.lastname: Hotta
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
authors.forename: Mineo
authors.initials: M
authors.lastname: Kondo
authors.forename: Sei
authors.initials: S
authors.lastname: Ito
authors.forename: Hiroko
authors.initials: H
authors.lastname: Terasaki
authors.forename: Yozo
authors.initials: Y
authors.lastname: Miyake
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Hida
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D003119:Color Perception Tests; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008268:Macular Degeneration / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000151:congenital* / Q000175:diagnosis / Q000208:ethnology; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D014794:Visual Fields
chemical_list: D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase