ArticleInternational ophthalmology2018
Clinical and genetic analysis of Indian patients with NDP-related retinopathies.
Article in International ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Review
- Article
- NDP-related retinopathies: clinical phenotype of female carriers.The British journal of ophthalmology · 2023Article
- Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion ofFrontiers in aging neuroscience · 2022Article
- Ocular manifestations of Chinese patients with copy number variants in theMolecular vision · 2022Article
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Authors and funding
10 authors at 7 institutions in 1 country.
Funding
Abstract
purposeNDP-related retinopathies are a group of X-linked disorders characterized by degenerative and proliferative changes of the neuroretina, occasionally accompanied with varying degrees of mental retardation and sensorineural hearing loss. NDP is the predominant gene associated with NDP-related retinopathies. The purpose of this study was to report the clinical and genetic findings in three unrelated patients diagnosed with NDP-related retinopathies.
methodsThe patients underwent complete ophthalmic examination followed by genetic analyses. NDP gene was screened by direct sequencing approach. Targeted resequencing of several other ocular genes was carried out in patient samples that either indicated NDP gene deletion or tested negative for NDP mutation. Gene quantitation analysis was performed using real-time PCR.
resultsThe whole NDP gene was deleted in patient I, while a missense NDP mutation, c.205T>C, was identified in patient II, and both had classical Norrie disease ocular phenotype (with no other systemic defects). Patient III who was diagnosed with familial exudative vitreoretinopathy did not show any mutation in the known candidate genes as well as in other ocular genes tested.
conclusionsThe patient with whole NDP gene deletion did not exhibit any apparent extraocular defects (like mental retardation or sensorineural hearing loss) during his first decade of life, and this is considered to be a notable finding. Our study also provides evidence emphasizing the need for genetic testing which could eliminate ambiguities in clinical diagnosis and detect carrier status, thereby aiding the patient and family members during genetic counseling.
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