Literature DB >> 897848

Ehlers-Danlos syndrome associated with keratoconus. A case report.

B S Kuming, L Joffe.   

Abstract

A case of keratoconus in a patient with probable type IV Ehlers-Danlos syndrome is described. We believe this to be the first such case reported. The patient has undergone successful corneal grafting.

Entities:  

Mesh：

Year:  1977        PMID： 897848

Source DB:  PubMed          Journal:  S Afr Med J


  12 in total

Review 1.  Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies.

Authors:  Yelena Bykhovskaya; Xiaohui Li; Irina Epifantseva; Talin Haritunians; David Siscovick; Anthony Aldave; Loretta Szczotka-Flynn; Sudha K Iyengar; Kent D Taylor; Jerome I Rotter; Yaron S Rabinowitz
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-06-28       Impact factor: 4.799

Review 2.  The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders.

Authors:  Lubica Dudakova; Katerina Jirsova
Journal:  J Neural Transm (Vienna)       Date:  2013-02-20       Impact factor: 3.575

3.  Anterior pituitary, sex hormones, and keratoconus: Beyond traditional targets.

Authors:  Dimitrios Karamichos; Paulina Escandon; Brenda Vasini; Sarah E Nicholas; Lyly Van; Deanna H Dang; Rebecca L Cunningham; Kamran M Riaz
Journal:  Prog Retin Eye Res       Date:  2021-11-02       Impact factor: 19.704

4.  Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Authors:  Justyna A Karolak; Karolina Kulinska; Dorota M Nowak; Jose A Pitarque; Andrea Molinari; Malgorzata Rydzanicz; Bassem A Bejjani; Marzena Gajecka
Journal:  Mol Vis       Date:  2011-03-30       Impact factor: 2.367

5.  VSX1 gene variants are associated with keratoconus in unrelated Korean patients.

Authors:  Jee-Won Mok; Sun-Jin Baek; Choun-Ki Joo
Journal:  J Hum Genet       Date:  2008-07-15       Impact factor: 3.172

6.  Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

Authors:  Marzena Gajecka; Uppala Radhakrishna; Daniel Winters; Swapan K Nath; Malgorzata Rydzanicz; Uppala Ratnamala; Kimberly Ewing; Andrea Molinari; Jose A Pitarque; Kwanghyuk Lee; Suzanne M Leal; Bassem A Bejjani
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-11-14       Impact factor: 4.799

7.  Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

Authors:  Erik Fransen; Hanne Valgaeren; Katleen Janssens; Manou Sommen; Raphael De Ridder; Geert Vandeweyer; Luigi Bisceglia; Vincent Soler; Alexander Hoischen; Geert Mortier; François Malecaze; Carina Koppen; Guy Van Camp
Journal:  Eur J Hum Genet       Date:  2021-03-19       Impact factor: 4.246

8.  The genetics of keratoconus.

Authors:  Dorota M Nowak; Marzena Gajecka
Journal:  Middle East Afr J Ophthalmol       Date:  2011-01

Review 9.  Corneal cross-linking treatment of keratoconus.

Authors:  Mahgol Farjadnia; Mohammad Naderan
Journal:  Oman J Ophthalmol       Date:  2015 May-Aug

10.  Polymorphisms of the homologous recombination gene RAD51 in keratoconus and Fuchs endothelial corneal dystrophy.

Authors:  Ewelina Synowiec; Katarzyna A Wojcik; Justyna Izdebska; Ewelina Binczyk; Janusz Blasiak; Jerzy Szaflik; Jacek P Szaflik
Journal:  Dis Markers       Date:  2013-09-25       Impact factor: 3.434
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