title: A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
abstract: OBJECTIVE
  To report a novel compound heterozygous mutation in the 11-cis retinol dehydrogenase (RDH5) gene in a patient with fundus albipunctatus.
  
  
  METHODS
  We examined the RDH5 gene genotype in members of a Japanese family. Clinical examination showed that the proband had fundus albipunctatus and his aunt had retinitis pigmentosa. The RDH5 gene was analyzed by direct genomic sequencing.
  
  
  RESULTS
  The proband had a compound heterozygotic missense mutation of Val177Gly (GTC-->GGC) and Arg280His (CGC-->CAC) in his RDH5 gene. His mother had the Arg280His mutation and his father had the Val177Gly mutation, but his father's aunt who has typical retinitis pigmentosa had the wild type RDH5 gene. The occurrence of Val177Gly has not been reported in the RDH5 gene of fundus albipunctatus.
  
  
  CONCLUSIONS
  A novel compound heterozygous missense mutation in the RDH5 gene was found in a patient with fundus albipunctatus.
authors.affiliation: Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kuroiwa
authors.forename: T
authors.initials: T
authors.lastname: Kikuchi
authors.forename: N
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D009755:Night Blindness / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000201:enzymology / Q000208:ethnology / Q000235:genetics
chemical_list: D017931:DNA Primers; D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase