Congenital stationary night blindness (CSNB)
Analysis ID 169
Analysis location Collaboration with another facility
Diagnosed illness Congenital stationary night blindness (CSNB)
OMIM
Clinical information X-linked congenital stationary night blindness is a retinal disorder mainly characterized by reduced vision during twilight and night time. Additionally, it can also present with reduced visual acuity, high myopia, nystagmus, and strabismus. Color vision is typically not affected. The vision problems associated with this condition are congenital. The symptoms tend to remain stable (stationary) over time. There have been two major types of X-linked congenital stationary night blindness identified: complete and incomplete form, which differ in their genetic cause and their symptoms.
Type of analysis Microarray
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes
Analysis description Test consists of 126 mutations in 9 genes studied with use of microarray technology
Analysis indication Symptoms of congenital stationary night blindness
Analysis time Appointed individually
Refund No
CGM laboratory name