Nat Neurosci 2003 Jul 01;67:731-5. doi: 10.1038/nn1070.

Opsin activation as a cause of congenital night blindness.

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Three different mutations of rhodopsin are known to cause autosomal dominant congenital night blindness in humans. Although the mutations have been studied for 10 years, the molecular mechanism of the disease is still a subject of controversy. We show here, using a transgenic Xenopus laevis model, that the photoreceptor cell desensitization that is a hallmark of the disease results from persistent signaling by constitutively active mutant opsins.

???displayArticle.pubmedLink??? 12778053
???displayArticle.link??? Nat Neurosci
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Species referenced: Xenopus laevis
Genes referenced: cacna1f nyx rho

???displayArticle.disOnts??? retinal disease [+]
???displayArticle.omims??? NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A [+]