Article
Molecular genetic cause of achromatopsia in two patients of Czech origin.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti - 1 Jan 2019
Hlavatá L, Ďuďáková Ľ, Moravíková J, Zobanová A, Kousal B, Lišková P
Abstract excerpt
INTRODUCTION: Achromatopsia is an autosomal recessive retinal disorder with an estimated prevalence ranging from 1 in 30.000 to 50.000. The disease is caused by mutations in six different genes. The aim of the study was to perform molecular genetic analysis in 11 unrelated probands with a clinical diagnosis of achromatopsia and to describe clinical findings in those that were found to carry biallelic pathogenic...
Topics
- Child
- Color Vision Defects
- Cyclic Nucleotide-Gated Cation Channels
- Czech Republic
- DNA Mutational Analysis
- Humans
- Mutation
- Pedigree
- Tomography, Optical Coherence
- Young Adult