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Differential diagnosis of Schnyder corneal dystrophy.
Weiss JS, Khemichian AJ. Weiss JS, et al. Dev Ophthalmol. 2011;48:67-96. doi: 10.1159/000324078. Epub 2011 Apr 26. Dev Ophthalmol. 2011. PMID: 21540632 Review.
Consequently, SCD is thought to result from a local metabolic defect in the cornea. The corneal findings in SCD are very predictable depending on the age of the individual, with initial central corneal haze and/or crystals, subsequent appearance of arcus lipoides in the th …
Consequently, SCD is thought to result from a local metabolic defect in the cornea. The corneal findings in SCD are very predictable …
The Oskar Fehr Lecture.
Weiss JS. Weiss JS. Klin Monbl Augenheilkd. 2016 Jun;233(6):708-12. doi: 10.1055/s-0042-100735. Epub 2016 Jun 17. Klin Monbl Augenheilkd. 2016. PMID: 27315290 English.
The impact of systemic cholesterol metabolism on other diseases is reviewed. RESULTS: Corneal findings in SCD are predictable on the basis of patient age. All patients develop progressive corneal haze because of abnormal deposition of corneal lipid, but only half of patien …
The impact of systemic cholesterol metabolism on other diseases is reviewed. RESULTS: Corneal findings in SCD are predictable on the …
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML. Weiss JS, et al. Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5007-12. doi: 10.1167/iovs.07-0845. Invest Ophthalmol Vis Sci. 2007. PMID: 17962451
A mutation in UBIAD1 was identified in all six families: Five families had the same N102S mutation, and one family had a G177R mutation. Predictions of the protein structure indicated that a prenyl-transferase domain and several transmembrane helices are affected by these …
A mutation in UBIAD1 was identified in all six families: Five families had the same N102S mutation, and one family had a G177R mutation. …
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.
Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB, Aldave AJ. Yellore VS, et al. Mol Vis. 2007 Sep 24;13:1777-82. Mol Vis. 2007. PMID: 17960116
Only two of the sequence variants segregated with the affected phenotype in either of the families screened. Both were novel single nucleotide polymorphisms (SNPs) predicted to result in synonymous amino acid substitutions in different predicted genes. However, one …
Only two of the sequence variants segregated with the affected phenotype in either of the families screened. Both were novel single nucleoti …