ArticleMiddle East African journal of ophthalmology2011
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).
Article in Middle East African journal of ophthalmology, 2011. 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, 16 citations in OpenAlex.
- Case Report of Schnyder Corneal Dystrophy-A Rare Lipid Metabolic Disorder of the Cornea.Life (Basel, Switzerland) · 2025Article
- Synthesis, function, and regulation of sterol and nonsterol isoprenoids.Frontiers in molecular biosciences · 2022Review
- Functional study of SCCD pathogenic geneMolecular medicine reports · 2021Article
- UBIAD1 suppresses the proliferation of bladder carcinoma cells by regulating H-Ras intracellular trafficking via interaction with the C-terminal domain of H-Ras.Cell death & disease · 2018Article
- Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.BMC ophthalmology · 2018Article
- Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.Journal of ophthalmology · 2016Article
- Structure of a membrane-embedded prenyltransferase homologous to UBIAD1.PLoS biology · 2014Article
- Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing ofMolecular genetics and metabolism reports · 2014Article
- The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.Human mutation · 2013Article
- A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an affected family from the historically isolated Arabian Peninsula. A child and her mother had central crystalline keratopathy consistent with Schnyder corneal dystrophy. Diagnostic UB1AD1 testing revealed a known point mutation (c.361C>T, p.L121F) in both individuals. Available asymptomatic family members had normal ophthalmic examinations and did not have the mutation. Blood lipid profiles for the two patients revealed mildly elevated total cholesterol and low-density lipoproteins. This report documents Schnyder corneal dystrophy on the Arabian Peninsula and further confirms its relationship with heterozygous UB1AD1 missense mutation.
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