ArticleOphthalmology science
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.
Article in Ophthalmology science. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed.
- Macular telangiectasia type 2: An update.The Journal of international medical research · 2026Review
- Neurodevelopmental alterations are key drivers of SPG56.Human molecular genetics · 2026Article
- Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants.BMC medical genomics · 2026Article
- Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review.BMC neurology · 2026Review
- iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.The Journal of clinical investigation · 2023Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To report the retinal phenotype in 2 patients simulating type 2 macular telangiectasis with new variants in Design: Cross sectional case series study. Participants: Five members of a non-consanguineous family (parents and 3 male children) were investigated. Methods: All family members underwent a full ophthalmic evaluation and multimodal retinal imaging. Two family members demonstrating retinal anomalies underwent additional OCT angiography, dual wavelength autofluorescence and fluorescence lifetime imaging ophthalmoscopy, kinetic perimetry, fundus-correlated microperimetry, electroretinography, and electro-oculography. Whole-exome sequencing was performed in all 5 family members. Main Outcome Measures: To characterize the retinal phenotype in affected patients with variants in Results: The 2 siblings with compound heterozygous novel variants c.452C>T; p.(Pro151Leu), c.943C>T; p.(Gln315Ter) in Conclusions: These Financial Disclosures: The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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Registered trials
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