June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Genetic and clinical features of FEVR and Norrie disease
Author Affiliations & Notes
  • Eisuke Arai
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Ophthalmology, The Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan
  • Takuro Fujimaki
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Ai Miyazaki
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Keiko Fujiki
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Fumino Iwata
    Iwata Ophthalmology Clinic, Tokyo, Japan
  • Takenori Inomata
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Hiroyuki Kawano
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Toshiyuki Yokoyama
    Ophthalmology, Juntendo University Nerima Hospital, Tokyo, Japan
  • Akihisa Okumura
    Pediatrics and Adolescent Medicine, Juntendo University School of Medicine, Tokyo, Japan
  • Akira Murakami
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Footnotes
    Commercial Relationships Eisuke Arai, None; Takuro Fujimaki, None; Ai Miyazaki, None; Keiko Fujiki, None; Fumino Iwata, None; Takenori Inomata, None; Hiroyuki Kawano, None; Toshiyuki Yokoyama, None; Akihisa Okumura, None; Akira Murakami, SEED(Japan) JP4855782 (P), SEED(Japan) JP5132958 (P)
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1331. doi:
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    • Get Citation

      Eisuke Arai, Takuro Fujimaki, Ai Miyazaki, Keiko Fujiki, Fumino Iwata, Takenori Inomata, Hiroyuki Kawano, Toshiyuki Yokoyama, Akihisa Okumura, Akira Murakami; Genetic and clinical features of FEVR and Norrie disease. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1331.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: Analysis of the FZD4, NDP, LRP5, and TSAPN12 genes was conducted in patients with suspected familial exudative vitreoretinopathy (FEVR) or Norrie disease based on their clinical findings.

Methods: Nine families (22 cases) with suspected FEVR and one family (three cases) with suspected Norrie disease were studied. Direct sequencing was performed by extracting genomic DNA from the leukocytes of patients and amplifying each exons of four genes by the PCR method. Multiple ligation-dependent probe amplification (MLPA) was also performed in the patient with suspected FEVR and the Norrie disease families for whom mutations were not found by PCR analysis. To perform MLPA, two probes corresponding to each exon of a target gene were hybridized and ligated together, followed by amplification using the PCR method. Then the intensity of the band for each probe was measured by electrophoresis and the copy number was determined.

Results: Mutation of FZD4 was observed in four families (six patients) with suspected FEVR and deletion of exon 2 of NDP was observed in one family (three siblings) with suspected Norrie disease.

Conclusions: The present gene analysis identified pathogenic gene mutations, in families with suspected FEVR and Norrie disease. Although the direct sequencing method was useful for genetic diagnosis, there were cases in which the detection of deletion was difficult. In such cases, MLPA proved to be effective.

Keywords: 537 gene screening • 696 retinal degenerations: hereditary • 539 genetics  
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