X-linked Congenital Stationary Night Blindness

X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal disorder. It has two forms, complete, also known as type-1 (CSNB1), and incomplete, also known as type-2 (CSNB2), depending on severity. In the complete form (CSNB1), there is no measurable rod cell response to light, whereas this response is measurable in the incomplete form. Patients with this disorder have difficulty adapting to low light situations due to impaired photoreceptor transmission. These patients also often have reduced visual acuity, myopia, nystagmus, and strabismus. CSNB1 is caused by mutations in the gene NYX, which encodes a protein involved in retinal synapse formation or synaptic transmission. CSNB2 is caused by mutations in the gene CACNA1F, which encodes a voltage-gated calcium channel CaV1.4.

Read more about X-linked Congenital Stationary Night Blindness:  Symptoms, Cause, Genetics

Famous quotes containing the words congenital, stationary, night and/or blindness:

    France is not poetic; she even feels, in fact, a congenital horror of poetry. Among the writers who use verse, those whom she will always prefer are the most prosaic.
    Charles Baudelaire (1821–1867)

    It is the dissenter, the theorist, the aspirant, who is quitting this ancient domain to embark on seas of adventure, who engages our interest. Omitting then for the present all notice of the stationary class, we shall find that the movement party divides itself into two classes, the actors, and the students.
    Ralph Waldo Emerson (1803–1882)

    In a real dark night of the soul it is always three o’clock in the morning, day after day.
    F. Scott Fitzgerald (1896–1940)

    It amazes me when I hear any person prefer blindness to deafness. Such a person must have a terrible dread of being alone. Blindness makes one totally dependent on others, and deprives us of every satisfaction that results from light.
    Horace Walpole (1717–1797)