ArticleMedicine2017
Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family: A case report.
Article in Medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Anisometropia and Its Related Traits: Ocular, Systemic, and Genetic Characteristics-Results From the Gutenberg Health Study.Investigative ophthalmology & visual science · 2026Article
- Whole-Exome Sequencing Among School-Aged Children With High Myopia.JAMA network open · 2023Article
- Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study.Investigative ophthalmology & visual science · 2023Article
- Article
- IMI - Myopia Genetics Report.Investigative ophthalmology & visual science · 2019Review
- Anisometropia in children: Current understanding and clinical implications.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionSevere myopic anisometropia has been identified to have heritability, but the pathogenesis of anisometropia still remains obscure. CASE DESCRIPTION: Here, we presented a Chinese severe myopic anisometropia family with 5 members affected. Though using the exome sequencing, we identified a novel mutation in the UNC5D gene (c.1297C>T, p.R433C), which was predicted to have a damage effect on the protein function and kept highly conserved throughout evolution across species. As previously described, the UNC5D gene belongs to the UNC5 protein family and may have functions to regulate neuronal migration, axon guidance, and cell survival. The expression of UNC5D was also co-located at the visual areas of the mouse cortical regions at early postnatal ages.
conclusionOur data provide the first evidence for involvement of UNC5D gene in the severe myopic anisometropia.
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Registered trials
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