Article
Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.
Molecular vision - 1 Jan 2025
Molleti Sanjana, Monsalve Pedro F, Sather Richard N, Moon Jade Y, Ihinger Jacie, Montezuma Sandra R
Abstract excerpt
Purpose: Achromatopsia (ACHM) is a cone dysfunction syndrome associated with low color vision, photophobia, and congenital nystagmus. Pathogenic variants in the CNGA3 and CNGB3 genes are the most common causes of ACHM. Identifying the underlying genetic etiology in patients with clinical findings of ACHM is critical to establishing the diagnosis and selecting targets for gene therapies. This study utilizes the...
Topics
- Humans
- Color Vision Defects
- Female
- Phenotype
- Cyclic Nucleotide-Gated Cation Channels
- Retrospective Studies
- Male
- Electroretinography
- Genetic Therapy
- Child