General Information of Disease (ID: DISNAU7C)

Disease Name X-linked congenital stationary night blindness
Synonyms X-linked CSNB; congenital stationary night blindness, X-linked; XLCSNB
Definition
X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.
Disease Hierarchy
DISX0CWK: Congenital stationary night blindness
DIS2BIP8: Congenital nervous system disorder
DIS3PN9X: X-linked disease
DISNAU7C: X-linked congenital stationary night blindness