ArticleDer Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft2019
[Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene].
Article in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 8 citations in OpenAlex.
- Brittle cornea syndrome: A novel mutation.Heliyon · 2024Article
- A mouse model of brittle cornea syndrome caused by mutation in Zfp469.Disease models & mechanisms · 2021Article
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5 authors at 3 institutions in 1 country.
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Abstract
We report the case of a 3-year-old boy presenting with bilateral keratoglobus and blue sclera in addition to hallux valgus, arachnodactyly, small joint hypermobility, mitral valve dysfunction and a history of generalized muscular hypotonia in early infancy. Molecular genetics provided evidence of two pathogenic mutations in the ZNF469 gene (compound heterozygosity) leading to the diagnosis of brittle cornea syndrome type 1. In addition to neuropediatric care, spectacles were prescribed to correct refractive error and for ocular protection. Owing to the thin cornea and sclera, eye injuries are the main cause for irreversible visual loss in this disease.
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