ArticleJapanese journal of ophthalmology2014
Familial cases of Norrie disease detected by copy number analysis.
Article in Japanese journal of ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Early Clinical Manifestations and Visual Prognosis of Japanese Patients with Norrie Disease: A Case Series and Literature Review.Journal of clinical medicine · 2026Article
- A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.Human mutation · 2026Article
- Ocular manifestations of Chinese patients with copy number variants in theMolecular vision · 2022Article
- Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.Molecular vision · 2022Article
- Case report: A case of Norrie disease due to deletion of the entire coding region ofAmerican journal of ophthalmology case reports · 2021Article
- Tactile short-term memory in sensory-deprived individuals.Experimental brain research · 2017Article
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8 authors.
Funding
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Abstract
purposeNorrie disease (ND, MIM#310600) is an X-linked disorder characterized by severe vitreoretinal dysplasia at birth. We report the results of causative NDP gene analysis in three male siblings with Norrie disease and describe the associated phenotypes.
methodsThree brothers with suspected Norrie disease and their mother presented for clinical examination. After obtaining informed consent, DNA was extracted from the peripheral blood of the proband, one of his brothers and his unaffected mother. Exons 1-3 of the NDP gene were amplified by polymerase chain reaction (PCR), and direct sequencing was performed. Multiplex ligation-dependent probe amplification (MLPA) was also performed to search for copy number variants in the NDP gene.
resultsThe clinical findings of the three brothers included no light perception, corneal opacity, shallow anterior chamber, leukocoria, total retinal detachment and mental retardation. Exon 2 of the NDP gene was not amplified in the proband and one brother, even when the PCR primers for exon 2 were changed, whereas the other two exons showed no mutations by direct sequencing. MLPA analysis showed deletion of exon 2 of the NDP gene in the proband and one brother, while there was only one copy of exon 2 in the mother.
conclusionNorrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis. To localize the defect, confirmation of copy number variation by the MLPA method was useful in the present study.
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