Literature DB >> 1143149

Keratoconus and the Ehlers-Danlos syndrome: a new aspect of keratoconus.

I Robertson.   

Abstract

Hypermobility of the joints is a frequent finding in patients who have keratoconus. Twenty-two of 44 patients (50%) presenting in 1973 were found to have hypermobility of joints (mainly Ehlers-Danlos syndrome II or mitis type). The significance of this finding is discussed in relation to biochemical defects recently found in corneas with keratoconus. The hypothesis is presented that keratoconus is often a part of a generalized heritable disorder of connective tissue due to a biochemical defect causing a weakness in its structure.

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Year:  1975        PMID: 1143149     DOI: 10.5694/j.1326-5377.1975.tb111590.x

Source DB:  PubMed          Journal:  Med J Aust        ISSN: 0025-729X            Impact factor:   7.738


  26 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

Review 3.  The cornea--structure and macromolecules in health and disease. A review.

Authors:  G K Klintworth
Journal:  Am J Pathol       Date:  1977-12       Impact factor: 4.307

4.  Mitochondrial Profile and Responses to TGF-β Ligands in Keratoconus.

Authors:  Akhee Sarker-Nag; Audrey E K Hutcheon; Dimitrios Karamichos
Journal:  Curr Eye Res       Date:  2015-10-02       Impact factor: 2.424

5.  Collagen types in keratoconus.

Authors:  T M Radda; E J Menzel; H Freyler; H D Gnad
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

6.  Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Authors:  Marta Czugala; Justyna A Karolak; Dorota M Nowak; Piotr Polakowski; Jose Pitarque; Andrea Molinari; Malgorzata Rydzanicz; Bassem A Bejjani; Beatrice Y J T Yue; Jacek P Szaflik; Marzena Gajecka
Journal:  Eur J Hum Genet       Date:  2011-11-02       Impact factor: 4.246

7.  The Genetics of Keratoconus: A Review.

Authors:  Joshua Wheeler; Michael A Hauser; Natalie A Afshari; R Rand Allingham; Yutao Liu
Journal:  Reprod Syst Sex Disord       Date:  2012-06-03

8.  Prevalence of mitral valve prolapse in keratoconus patients.

Authors:  K W Sharif; T A Casey; J Coltart
Journal:  J R Soc Med       Date:  1992-08       Impact factor: 5.344

9.  A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

Authors:  A J Richards; S Martin; A C Nicholls; J B Harrison; F M Pope; N P Burrows
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

10.  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

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