Article
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Ophthalmology - 1 May 2015
Zelinger Lina, Cideciyan Artur V, Kohl Susanne, Schwartz Sharon B, Rosenmann Ada, Eli Dalia, Sumaroka Alexander, Roman Alejandro J, Luo Xunda, Brown Cassondra, Rosin Boris, Blumenfeld Anat, Wissinger Bernd, Jacobson Samuel G, Banin Eyal, Sharon Dror
Abstract excerpt
PURPOSE: Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and photoaversion. Five genes are known causes of ACHM. The present study took steps toward performing a trial of gene therapy in ACHM by characterizing the genetics of ACHM in Israel and the Palestinian Territories and analyzing retinal function...
Topics
- Adolescent
- Adult
- Arabs
- Child
- Color Vision Defects
- Consanguinity
- Cyclic Nucleotide-Gated Cation Channels
- DNA Mutational Analysis
- Electroretinography
- Exons