Literature DB >> 314192

Cholesterol turnover in hereditary crystalline corneal dystrophy of Schnyder.

R P Burns, W Connor, I Gipson.   

Abstract

A patient with hereditary crystalline corneal dystrophy of Schnyder required penetrating keratoplasty because of poor visual acuity. Blood cholesterol was labeled with 14C-cholesterol and 11 days later a penetrating keratoplasty was done. At the time of surgery, corneal levels of cholesterol were much higher than serum levels, showing that cornea is an active site for the uptake and storage of cholesterol in this disorder.

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Year:  1978        PMID: 314192      PMCID: PMC1311622     

Source DB:  PubMed          Journal:  Trans Am Ophthalmol Soc        ISSN: 0065-9533


  14 in total

1.  Ocular manifestations of familial hypercholesterolemia.

Authors:  F C BLODI; J C YARBROUGH
Journal:  Trans Am Ophthalmol Soc       Date:  1962

2.  Lipid keratopathy and atheroma.

Authors:  D G COGAN; T KUWABARA
Journal:  Circulation       Date:  1958-10       Impact factor: 29.690

3.  Hereditary crystalline degeneration of the cornea.

Authors:  J L MALBRAN; J M PAUNESSA; F VIDAL
Journal:  Ophthalmologica       Date:  1953-12       Impact factor: 3.250

4.  Crystalline Dystrophy of the Cornea.

Authors:  W E Fry; W E Pickett
Journal:  Trans Am Ophthalmol Soc       Date:  1950

5.  Xanthoma corneae as hereditary dystrophy.

Authors:  R SYSI
Journal:  Br J Ophthalmol       Date:  1950-06       Impact factor: 4.638

6.  Wilfred E. Fry, MD.

Authors:  A H Keeney
Journal:  Trans Am Ophthalmol Soc       Date:  1976

7.  [The fine structure of certain corneal dystrophies].

Authors:  G Offret; P Payrau; Y Pouliquen; J P Faure; J Bisson
Journal:  Arch Ophtalmol Rev Gen Ophtalmol       Date:  1966-03

8.  Degeneratio corneae cristallinea hereditaria. A clinical, genetical and histological study.

Authors:  J W Delleman; J E Winkelman
Journal:  Ophthalmologica       Date:  1968       Impact factor: 3.250

9.  Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia.

Authors:  A J Bron; H P Williams; M E Carruthers
Journal:  Br J Ophthalmol       Date:  1972-05       Impact factor: 4.638

Review 10.  Fat transport in lipoproteins--an integrated approach to mechanisms and disorders.

Authors:  D S Fredrickson; R I Levy; R S Lees
Journal:  N Engl J Med       Date:  1967-01-05       Impact factor: 91.245

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  7 in total

1.  Conjunctival xerosis, arcus lipoides and Rieger's disease.

Authors:  R J de Keizer
Journal:  Doc Ophthalmol       Date:  1991       Impact factor: 2.379

2.  Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis).

Authors:  Jayne S Weiss
Journal:  Trans Am Ophthalmol Soc       Date:  2007

3.  A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.

Authors:  Fei Dong; Xueting Jin; Michelle A Boettler; Harrison Sciulli; Mones Abu-Asab; Christina Del Greco; Shurong Wang; Yueh-Chiang Hu; Maria M Campos; Shelley N Jackson; Ludovic Muller; Amina S Woods; Christian A Combs; Jianhua Zhang; Michael L Nickerson; Howard S Kruth; Jayne S Weiss; Winston W Kao
Journal:  Sci Rep       Date:  2018-07-05       Impact factor: 4.379

4.  Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

Authors:  Andrew Orr; Marie-Pierre Dubé; Julien Marcadier; Haiyan Jiang; Antonio Federico; Stanley George; Christopher Seamone; David Andrews; Paul Dubord; Simon Holland; Sylvie Provost; Vanessa Mongrain; Susan Evans; Brent Higgins; Sharen Bowman; Duane Guernsey; Mark Samuels
Journal:  PLoS One       Date:  2007-08-01       Impact factor: 3.240

5.  Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.

Authors:  Jodhbir S Mehta; Eranga N Vithana; Divya Venkataraman; Anandalakshmi Venkatraman; Rebekah Poh; Roger W Beuerman; Tin Aung; Donald T H Tan
Journal:  Mol Vis       Date:  2008-07-09       Impact factor: 2.367

6.  Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.

Authors:  Benjamin R Lin; Ricardo F Frausto; Rosalind C Vo; Stephan Y Chiu; Judy L Chen; Anthony J Aldave
Journal:  J Ophthalmol       Date:  2016-06-12       Impact factor: 1.909

7.  Functional study of SCCD pathogenic gene UBIAD1 (Review).

Authors:  Jumin Xie; Lingxing Li
Journal:  Mol Med Rep       Date:  2021-08-09       Impact factor: 2.952

  7 in total

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