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Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature.
Weiss JS. Weiss JS. Ophthalmology. 1996 Mar;103(3):465-73. doi: 10.1016/s0161-6420(96)30670-2. Ophthalmology. 1996. PMID: 8600424
Each patient had a complete ophthalmic evaluation, including slit-lamp examination by the author. RESULTS: Only 51% (17 of 33) of patients with Schnyder crystalline corneal dystrophy actually had clinical evidence of corneal crystalline deposits. ...
Each patient had a complete ophthalmic evaluation, including slit-lamp examination by the author. RESULTS: Only 51% (17 of 33) of patients w …
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML. Weiss JS, et al. Am J Med Genet A. 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201. Am J Med Genet A. 2008. PMID: 18176953
Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. ...
Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive …
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
PURPOSE: Schnyder crystalline corneal dystrophy (SCCD; MIM 121800) is a rare autosomal dominant disease characterized by an abnormal increase in cholesterol and phospholipid deposition in the cornea, leading to progressive corneal opacification. ...
PURPOSE: Schnyder crystalline corneal dystrophy (SCCD; MIM 121800) is a rare autosomal dominant disease characte …
Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis).
Weiss JS. Weiss JS. Trans Am Ophthalmol Soc. 2007;105:616-48. Trans Am Ophthalmol Soc. 2007. PMID: 18427632 Free PMC article.
PURPOSE: To assess the findings, visual morbidity, and surgical intervention in Schnyder crystalline corneal dystrophy (SCCD). METHODS: Retrospective case series of 115 affected individuals from 34 SCCD families identified since 1989. ...
PURPOSE: To assess the findings, visual morbidity, and surgical intervention in Schnyder crystalline corneal dystrop …