ArticleThe British journal of ophthalmology2023
NDP-related retinopathies: clinical phenotype of female carriers.
Article in The British journal of ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 7 citations in OpenAlex.
- A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.Human mutation · 2026Article
- 5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.Orphanet journal of rare diseases · 2025Article
- Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.Molecular genetics and genomics : MGG · 2024Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimsNorrin cysteine knot growth factor (
methodsTwelve female carriers from 11 unrelated families with pathogenic
resultsOf the 12 females, 1 (1/12, 8.3%) presented with decreased visual acuity and 11 (11/12, 91.7%) were asymptomatic. Based on the FFA, peripheral vascular changes were noted in 66.7% (16/24) of the eyes of 75.0% (9/12) of the carriers. A total of 33.3% (8/24) had typical FEVR phenotype, 33.3% (8/24) had mild vascular abnormalities and 33.3% (8/24) was unremarkable. In addition, predominant changes such as telangiectatic endings (66.7%), anomalous circumferential vessel (37.5%), supernumerary vascular branching (33.3%), fluorescein leakage (29.2%), avascular area (8.3%), retina fold (8.3%) and peripheral straightening of retinal vessels (33.3%) were noted.
conclusionAlthough
Indexed as
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Registered trials
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