Literature DB >> 6525578

Keratoconus and Leber's congenital amaurosis: a clinicopathological correlation.

M Flanders, M L Lapointe, S Brownstein, J M Little.   

Abstract

A 42-year-old man with Leber's congenital amaurosis, cataracts and keratoconus died following abdominal surgery. Postmortem pathological examination of the globes disclosed cone-shaped corneas with unusual central subepithelial scars and a retinopathy consistent with retinitis pigmentosa. A review of the family history revealed two siblings with congenital blindness.

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Mesh：

Year:  1984        PMID： 6525578

Source DB:  PubMed          Journal:  Can J Ophthalmol        ISSN： 0008-4182            Impact factor:   1.882


  6 in total

1.  An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.

Authors:  S Heegaard; T Rosenberg; M Preising; J U Prause; T Bek
Journal:  Br J Ophthalmol       Date:  2003-08       Impact factor: 4.638

2.  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

3.  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

4.  Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.

Authors:  Henrik Vorum; Morten Østergaard; Greg E Rice; Bent Honoré; Toke Bek
Journal:  Proteome Sci       Date:  2007-02-27       Impact factor: 2.480

5.  Polymorphism of the DNA base excision repair genes in keratoconus.

Authors:  Katarzyna A Wojcik; Ewelina Synowiec; Katarzyna Sobierajczyk; Justyna Izdebska; Janusz Blasiak; Jerzy Szaflik; Jacek P Szaflik
Journal:  Int J Mol Sci       Date:  2014-10-29       Impact factor: 5.923

6.  Lack of association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and keratoconus in a Polish subpopulation.

Authors:  Ewelina Synowiec; Katarzyna A Wójcik; Anna Czubatka; Piotr Polakowski; Justyna Izdebska; Jerzy Szaflik; Janusz Błasiak; Jacek P Szaflik
Journal:  Arch Med Sci       Date:  2015-10-12       Impact factor: 3.318
  6 in total

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