Genetic Test
The LRIT3 (Leucine Rich Repeat, Ig-Like and Transmembrane Domains 3) gene encodes a protein involved in the regulation of fibroblast growth factor receptors (FGFRs), which play a role in cell signaling and development.
In the retina, LRIT3 is particularly important for the proper function of bipolar cells involved in visual signal transmission under low-light conditions.
Mutations in the LRIT3 gene have been associated with congenital stationary night blindness (CSNB), a condition in which affected animals have difficulty seeing in dim light from birth.
This genetic test targets a specific LRIT3 mutation linked to congenital stationary night blindness.
Disease Description
Congenital stationary night blindness (CSNB) is a hereditary ocular disorder characterized by severely impaired vision in low-light or nighttime conditions.
While vision in daylight may remain relatively normal, some degree of daytime visual impairment may also be observed depending on the severity and subtype.
The condition typically presents early in life and progresses slowly, often involving gradual degeneration of the retina.
A key pathological feature is the accumulation of lipofuscin within the retinal pigment epithelium, indicating cellular stress and impaired retinal metabolism.
