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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)
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.
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.
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.
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.
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