gms | German Medical Science

Artificial Vision 2013

The International Symposium on Visual Prosthetics

08.11. - 09.11.2013, Aachen

Leber Congenital Amaurosis Studies on phenotype and genotype

Meeting Abstract

  • Carel B. Hoyng - Nijmegen, Netherlands
  • A.I. den Hollander - Nijmegen, Netherlands
  • R.K. Koenekoop - Nijmegen, Netherlands

Artificial Vision 2013. Aachen, 08.-09.11.2013. Düsseldorf: German Medical Science GMS Publishing House; 2014. Doc13artvis02

doi: 10.3205/13artvis02, urn:nbn:de:0183-13artvis025

Veröffentlicht: 13. Februar 2014

© 2014 Hoyng et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Objective: Leber Congenital Amaurosis (LCA) is a heterogenous group of retinal dystrophies defined as congenital or very early onset of rod-cone dystrophy. Nineteen causative genes have been identified for LCA.

Materials and Methods: In a large international database, patients diagnosed with LCA were studied with respect to clinical features, including retinal imaging and genetic aspects.

Results: An overview will be given on the phenotypes of various genotypes in LCA.

Discussion: The best preserved retinas are those of patients with RPE65, LRAT, GUCY2D and CEP290 mutations.