Multimodal Imaging Features of Schnyder Corneal Dystrophy. [PDF]
J Ophthalmol, 2020 Objective. To describe the multimodal imaging of Schnyder corneal dystrophy. Methods. Seven eyes of seven patients (5 female and 2 male patients) aged 52 to 92 years were included in this prospective observational study. Diagnosis of SCD was confirmed by
Ghazal W +4 more
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Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. [PDF]
J Ophthalmol, 2016 Purpose. To report the identification of the first de novo UBIAD1 missense mutation in an individual with Schnyder corneal dystrophy (SCD). Methods.
Lin BR +5 more
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Case Report of Schnyder Corneal Dystrophy-A Rare Lipid Metabolic Disorder of the Cornea. [PDF]
Life (Basel)Background: Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disorder characterized by bilateral corneal opacification due to abnormal cholesterol and phospholipid deposition.
Stoyanova N +15 more
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Deep phototherapeutic keratectomy for Schnyder corneal dystrophy. [PDF]
Taiwan J Ophthalmol, 2023 We report a case of Schnyder corneal dystrophy (SCD) treated with deep phototherapeutic keratectomy (PTK). A 33-year-old man presented with a 5-year history of blurred vision and corneal haze in both eyes.
Chen CA, Tung HF, Liu YL, Lin CP.
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Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation. [PDF]
J Lipid Res, 2020 The autosomal dominant disorder Schnyder corneal dystrophy (SCD) is caused by mutations in UbiA prenyltransferase domain-containing protein-1 (UBIAD1), which uses geranylgeranyl pyrophosphate (GGpp) to synthesize the vitamin K2 subtype menaquinone-4 (MK ...
Jun DJ +5 more
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Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice. [PDF]
Elife, 2019 Autosomal-dominant Schnyder corneal dystrophy (SCD) is characterized by corneal opacification owing to overaccumulation of cholesterol. SCD is caused by mutations in UBIAD1, which utilizes geranylgeranyl pyrophosphate (GGpp) to synthesize vitamin K2 ...
Jo Y +10 more
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Lipid Keratopathy: Histopathology, Major Differential Diagnoses and The Importance of Clinical Correlation. [PDF]
Diagnostics (Basel), 2023 Lipid keratopathy (LK) is a rare ophthalmological condition characterized by a progressive reduction in visual acuity caused by corneal opacification due to central lipid accumulation.
Knez N, Walkenhorst M, Haeri M.
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Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. [PDF]
BMC Ophthalmol, 2018 Background The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands.
Evans CJ +7 more
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Management of Stromal Corneal Dystrophies; Review of the Literature with a Focus on Phototherapeutic Keratectomy and Keratoplasty. [PDF]
Vision (Basel), 2023 Corneal dystrophies are a group of non-inflammatory inherited disorders of the cornea. This review considers treatment options for epithelial-stromal and stromal corneal dystrophies: namely Reis–Bücklers, Thiel–Behnke, lattice, Avellino, granular ...
Ashena Z, Niestrata M, Tavassoli S.
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UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. [PDF]
PLoS One, 2010 BackgroundMutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in ...
Nickerson ML +20 more
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