Article
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Nature genetics - 1 Jul 1998
Bech-Hansen N T, Naylor M J, Maybaum T A, Pearce W G, Koop B, Fishman G A, Mets M, Musarella M A, Boycott K M
Abstract excerpt
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myopia, undetectable rod function and a normal cone response, whereas patients with incomplete CSNB...
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