Literature DB >> 9228245

A further observation of corneal dystrophy and perceptive deafness in two siblings.

A Magli1, L Capasso, T Foà, V Maurino, V Ventruto.   

Abstract

We studied two siblings with the rare association of corneal dystrophy and perceptive deafness (Harboyan syndrome). To our knowledge, this is the third description of this hereditary disorder. The results of the clinical, genetic, audiometric, and ocular examination of the two siblings and the type of inheritance, which agree with the previous description of the syndrome, are reported. Various hereditary syndromes associated with corneal dystrophy are reviewed.

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Mesh:

Year:  1997        PMID: 9228245     DOI: 10.3109/13816819709057120

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  4 in total

1.  Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Authors:  Julie Desir; Graciela Moya; Orit Reish; Nicole Van Regemorter; Hilde Deconinck; Karen L David; Françoise M Meire; Marc J Abramowicz
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

2.  The genetics of Fuchs' corneal dystrophy.

Authors:  Benjamin W Iliff; S Amer Riazuddin; John D Gottsch
Journal:  Expert Rev Ophthalmol       Date:  2012-08

3.  Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities.

Authors:  Ivan A Lopez; Mark I Rosenblatt; Charles Kim; Gary C Galbraith; Sherri M Jones; Liyo Kao; Debra Newman; Weixin Liu; Stacey Yeh; Alexander Pushkin; Natalia Abuladze; Ira Kurtz
Journal:  J Biol Chem       Date:  2009-07-08       Impact factor: 5.157

Review 4.  Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).

Authors:  Julie Desir; Marc Abramowicz
Journal:  Orphanet J Rare Dis       Date:  2008-10-15       Impact factor: 4.123

  4 in total

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