Japanese Journal of Ophthalmology

, Volume 50, Issue 5, pp 426–431

Clinical and Molecular Findings in Three Japanese Patients with Crystalline Retinopathy

  • Zi-Bing Jin
  • Shigeo Ito
  • Yoshihiro Saito
  • Yuji Inoue
  • Yasuo Yanagi
  • Nobuhisa Nao-i
LABORATORY INVESTIGATION

DOI: 10.1007/s10384-006-0350-0

Cite this article as:
Jin, ZB., Ito, S., Saito, Y. et al. Jpn J Ophthalmol (2006) 50: 426. doi:10.1007/s10384-006-0350-0

Abstract

Purpose

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.

Conclusion

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. Jpn J Ophthalmol 2006;50:426–431 © Japanese Ophthalmological Society 2006

Key words

Bietti crystalline corneoretinal dystrophy CYP4V2 gene mutation 

Copyright information

© Japanese Ophthalmological Society 2006

Authors and Affiliations

  • Zi-Bing Jin
    • 1
  • Shigeo Ito
    • 2
  • Yoshihiro Saito
    • 2
  • Yuji Inoue
    • 3
  • Yasuo Yanagi
    • 3
  • Nobuhisa Nao-i
    • 1
  1. 1.Department of Ophthalmology and Visual Science, Faculty of MedicineUniversity of MiyazakiMiyazakiJapan
  2. 2.Department of OphthalmologyNational Hospital Organization, Osaka National HospitalOsakaJapan
  3. 3.Department of OphthalmologyUniversity of Tokyo School of MedicineTokyoJapan
  4. 4.Department of Ophthalmology and Visual Science, Faculty of MedicineUniversity of MiyazakiMiyazakiJapan