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Nat Neurosci. 2003 Jul;6(7):731-5.

Opsin activation as a cause of congenital night blindness.

Author information

1
Department of Biochemistry and Volen Center for Complex Systems, Brandeis University, Waltham, Massachusetts 02454, USA.

Abstract

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.

PMID:
12778053
DOI:
10.1038/nn1070
[Indexed for MEDLINE]

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