title: Clinical and molecular findings in three Japanese patients with crystalline retinopathy.
abstract: OBJECTIVE
  To identify CYP4V2 mutations in three unrelated Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD).
  
  
  METHODS
  The three cases were diagnosed by ophthalmological examinations. All exons and flanking introns were amplified by polymerase chain reaction (PCR). PCR products were analyzed by direct sequencing. RNA was extracted from blood samples and analyzed by reverse transcriptase (RT)-PCR sequencing.
  
  
  RESULTS
  Direct PCR sequencing demonstrated a homozygous mutation involving a 17-bp deletion together with a 2-bp insertion (c.802-8del17bp/insGC) in case 1 and case 3, and RT-PCR demonstrated that the complete length of exon 7 was missing; case 2 showed only a heterozygous change in exon 11 with no second mutation.
  
  
  CONCLUSIONS
  A homozygous mutation was identified in two of the unrelated patients, and only a heterozygous change was detected in the third. These data indicate that c.802-8del17bp/insGC may be a frequent mutation in this gene.
authors.affiliation: Department of Ophthalmology and Visual Science, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
authors.forename: Zi-Bing
authors.initials: ZB
authors.lastname: Jin
authors.affiliation: Department of Ophthalmology, National Hospital Organization, Osaka National Hospital, Osaka, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Ito
authors.affiliation: Department of Ophthalmology, National Hospital Organization, Osaka National Hospital, Osaka, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Saito
authors.affiliation: Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Inoue
authors.affiliation: Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan.
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Yanagi
authors.affiliation: Department of Ophthalmology and Visual Science, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan. naoi@fc.miyazaki-u.ac.jp.
authors.forename: Nobuhisa
authors.initials: N
authors.lastname: Nao-I
mesh_terms: D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D003459:Crystallins / Q000378:metabolism*; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D000072470:Cytochrome P450 Family 4; D003937:Diagnosis, Differential; D005091:Exons; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012313:RNA / Q000235:genetics*; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D003459:Crystallins; D012313:RNA; D003577:Cytochrome P-450 Enzyme System; C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4