Article
Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing.
Ophthalmic genetics - 1 Dec 2025
Martinez Sanchez Mayra, Meher Nafiza, DeBruyn Hanna, Jain Ashish, Sun Liang, Gulkas Samet, Altschwager Pablo, Fulton Anne, Whitman Mary C
Abstract excerpt
BACKGROUND: Infantile nystagmus syndrome is often the presenting symptom of an underlying retinal disorder, such as Congenital Stationary Night Blindness (CSNB). CSNB, an inherited retinal disorder affecting rod mediated "night" vision, has several known genetic causes. Despite advances in genetic testing, structural variants can be difficult to detect using traditional methods like whole exome sequencing. CASE...
Topics
- Humans
- Night Blindness
- Male
- Myopia
- Child
- Genetic Diseases, X-Linked
- Eye Diseases, Hereditary
- Calcium Channels, L-Type
- Whole Genome Sequencing
- Pedigree