Literature DB >> 21686588

Keratoconus associated with CSNB1.

Dan Nguyen1, Chris Hemmerdinger, Richard Hagan, Malcolm Brown, Say Aun Quah, Stephen Kaye.   

Abstract

A 35-year-old man with best corrected visual acuities of -18.00/+10.00×180 (6/60) OD and -10.00/+8.00×5 (6/36) OS. Bilateral steep central corneal thinning, paracentral ectasia and Vogts striae were present; normal fundi. Corneal topography disclosed 7.4 dioptres of irregular astigmatism in the central 3 mm with thinning (335 μm). Electroretinography (ERG) showed no response. There were no medical or environmental influences for his keratoconus. Occurrence of keratoconus and CSNB in the patient may represent a chance association, but keratoconus has not been previously linked with CSNB1 either as a chance or true association though both show genetic predisposition.

Entities:  

Year:  2009        PMID： 21686588      PMCID： PMC3029579          DOI： 10.1136/bcr.09.2008.0877

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  9 in total

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Authors:  R V Iozzo
Journal:  J Biol Chem       Date:  1999-07-02       Impact factor: 5.157

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Authors:  Yaron S Rabinowitz
Journal:  Ophthalmol Clin North Am       Date:  2003-12

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Journal:  Am J Ophthalmol       Date:  1986-03-15       Impact factor: 5.258

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Authors:  C M Pusch; C Zeitz; O Brandau; K Pesch; H Achatz; S Feil; C Scharfe; J Maurer; F K Jacobi; A Pinckers; S Andreasson; A Hardcastle; B Wissinger; W Berger; A Meindl
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

6.  Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Authors:  N T Bech-Hansen; M J Naylor; T A Maybaum; R L Sparkes; B Koop; D G Birch; A A Bergen; C F Prinsen; R C Polomeno; A Gal; A V Drack; M A Musarella; S G Jacobson; R S Young; R G Weleber
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

7.  VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Authors:  Luigi Bisceglia; Marilena Ciaschetti; Patrizia De Bonis; Pablo Alberto Perafan Campo; Costantina Pizzicoli; Costanza Scala; Michele Grifa; Pio Ciavarella; Nicola Delle Noci; Filippo Vaira; Claudio Macaluso; Leopoldo Zelante
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-01       Impact factor: 4.799

8.  VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

Authors:  Elise Héon; Alex Greenberg; Kelly K Kopp; David Rootman; Andrea L Vincent; Gail Billingsley; Megan Priston; Kimberley M Dorval; Robert L Chow; Roderick R McInnes; Godfrey Heathcote; Carol Westall; John E Sutphin; Elena Semina; Rod Bremner; Edwin M Stone
Journal:  Hum Mol Genet       Date:  2002-05-01       Impact factor: 6.150

9.  NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.

Authors:  Christina Zeitz; Harry Scherthan; Susanne Freier; Silke Feil; Vanessa Suckow; Susann Schweiger; Wolfgang Berger
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-10       Impact factor: 4.799
  9 in total

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