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Pioneers for the Basic Understanding of Usher syndrome

Ahuja, Satpal LU (2011) In Usher syndrome: pathogenesis, diagnosis, and therapy p.421-428
Abstract
After the first description of the inherited nature of bimodal deaf-blindness disease in mid nineteenth century by pioneering ophthalmologists Albrecht von Graefe (May 22, 1828 ± July 20, 1870) and Richard Liebreich (June 30, 1830 - January 19, 1917) followed by its confirmation in early twentieth century from a larger number of patients by another pioneer ophthalmologist Charles Howard Usher (March 02, 1865 - March 03, 1942) the pathogenesis of Usher syndrome (USH) was studied unsuccessfully by cytological methods. In 1922 aBritish geneticist Julia Bell described the phenotypic heterogeneity in deaf-blind patients and this served as a base for the standardization of USH types by S.L.H. Davenport and G.S. Omenn in 1977. To date nine... (More)
After the first description of the inherited nature of bimodal deaf-blindness disease in mid nineteenth century by pioneering ophthalmologists Albrecht von Graefe (May 22, 1828 ± July 20, 1870) and Richard Liebreich (June 30, 1830 - January 19, 1917) followed by its confirmation in early twentieth century from a larger number of patients by another pioneer ophthalmologist Charles Howard Usher (March 02, 1865 - March 03, 1942) the pathogenesis of Usher syndrome (USH) was studied unsuccessfully by cytological methods. In 1922 aBritish geneticist Julia Bell described the phenotypic heterogeneity in deaf-blind patients and this served as a base for the standardization of USH types by S.L.H. Davenport and G.S. Omenn in 1977. To date nine causative genes and twelve chromosomal loci have been described and some of the causative genes are yet to be identified. In spite of the knowledge of the genetic heterogeneity the clinical classification of Usher syndrome into USH type 1, 2, and 3 is still used. (Less)
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Chapter in Book/Report/Conference proceeding
publication status
published
subject
in
Usher syndrome: pathogenesis, diagnosis, and therapy
pages
421 - 428
publisher
Nova Science Publishers, Inc.
ISBN
978-1-61209-227-0
language
English
LU publication?
yes
id
77969ccc-65ef-4897-8d08-c7ccf0254026
date added to LUP
2017-10-17 11:28:39
date last changed
2017-10-17 11:28:39
@inbook{77969ccc-65ef-4897-8d08-c7ccf0254026,
  abstract     = {After the first description of the inherited nature of bimodal deaf-blindness disease in mid nineteenth century by pioneering ophthalmologists Albrecht von Graefe (May 22, 1828 ± July 20, 1870) and Richard Liebreich (June 30, 1830 - January 19, 1917) followed by its confirmation in early twentieth century from a larger number of patients by another pioneer ophthalmologist Charles Howard Usher (March 02, 1865 - March 03, 1942) the pathogenesis of Usher syndrome (USH) was studied unsuccessfully by cytological methods. In 1922 aBritish geneticist Julia Bell described the phenotypic heterogeneity in deaf-blind patients and this served as a base for the standardization of USH types by S.L.H. Davenport and G.S. Omenn in 1977. To date nine causative genes and twelve chromosomal loci have been described and some of the causative genes are yet to be identified. In spite of the knowledge of the genetic heterogeneity the clinical classification of Usher syndrome into USH type 1, 2, and 3 is still used. },
  author       = {Ahuja, Satpal},
  isbn         = {978-1-61209-227-0},
  language     = {eng},
  pages        = {421--428},
  publisher    = {Nova Science Publishers, Inc.},
  series       = {Usher syndrome: pathogenesis, diagnosis, and therapy },
  title        = {Pioneers for the Basic Understanding of Usher syndrome},
  year         = {2011},
}