ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2022
A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.Ophthalmology science · 2026Review
- Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a NovelBiomedicines · 2025Article
- North Carolina Macular Dystrophy.Advances in experimental medicine and biology · 2025Review
- Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site ofMolecular vision · 2024Article
- A novelMolecular vision · 2024Article
- Responding to comments on "The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy."BMC ophthalmology · 2023Article
- Letter to the editor regarding "A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy".Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Electrophysiological Evaluation of Macular Dystrophies.Journal of clinical medicine · 2023Review
- The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy.BMC ophthalmology · 2022Article
- Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.American journal of human genetics · 2022Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
purposesNorth Carolina macular dystrophy (NCMD) is a rare autosomal dominant inherited disorder characterized by macular impairment with a variety of phenotypic manifestations. The aims of this study were to assess the clinical features of a Chinese family with NCMD and to identify the underlying genetic cause of the disease.
methodsThree patients from a Chinese family were included in this study. Detailed ophthalmological examinations were performed, including best corrected visual acuity (BCVA), slit lamp, dilated indirect ophthalmoscopy, fundus photography, optical coherence tomography (OCT), fundus autofluorescence, full-field electroretinography (ERG), and electrooculography (EOG). Genomic DNA was extracted from peripheral blood samples. Whole-genome sequencing and long-read genome sequencing were applied to detect the pathogenic variants. Sanger sequencing was performed to confirm the breakpoints.
resultsAll three patients had macular involvement ranging from patchy yellowish-white lesions to big-area thinning, which are typical for NCMD. The BCVA ranged from 20/50 to 20/20. OCT revealed varying degrees of macular structure disorganization. The ERG responses were normal, and the Arden ration of the EOG was reduced. A novel 134.6 kb (g.99932464-100067110dup) tandem duplication on chromosome 6 (NC_000006.11) encompassing the entire CCNC and PRDM13 genes and a DNase 1 hypersensitivity site in the MCDR1 locus was identified.
conclusionA novel large tandem duplication in MCDR1 locus was confirmed in a Chinese family with NCMD with a variety of macular phenotypes.
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