Multimodal Imaging Features of Schnyder Corneal Dystrophy
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DOI: 10.1155/2020/6701816
Abstract: 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… read more here.
Keywords: microscopy; schnyder corneal; multimodal; multimodal imaging ... See more keywords
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
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DOI: 10.1186/s12886-018-0918-8
Abstract: BackgroundThe purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands.MethodsWe identified two white Czech, two white British and two South… read more here.
Keywords: corneal; microscopy; schnyder corneal; corneal dystrophy ... See more keywords
Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation[S]
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DOI: 10.1194/jlr.ra119000551
Abstract: 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-4). SCD is characterized by… read more here.
Keywords: synthesis; associated ubiad1; schnyder corneal; scd ... See more keywords