Genetic Test
The IQCB1 (IQ Motif Containing B1) gene encodes a protein involved in the formation of cilia, which are slender, hair-like projections extending from the surface of cells.
Mutations in this gene are associated with cone-rod dystrophy type 2, a hereditary retinal disorder characterized by progressive degeneration of cone and rod photoreceptor cells.
This genetic test targets a specific IQCB1 mutation linked to cone-rod dystrophy type 2.
Disease Description
The retina is a thin layer of tissue lining the interior of the eye, responsible for essential visual functions such as light absorption, detection, and signal transmission.
Cone-rod dystrophy type 2 is a congenital retinal disorder characterized by abnormalities in both rod and cone photoreceptor cells, which are responsible for detecting light.
This disease typically manifests relatively early in life and leads to progressive retinal degeneration and vision loss.
