Article
Constitutive opsin signaling: night blindness or retinal degeneration?
Trends in molecular medicine - 1 Apr 2004
Lem Janis, Fain Gordon L
Abstract excerpt
A subset of genetic mutations in photoreceptor-specific genes results in abnormally prolonged activation of transducin-mediated photosignaling in rod cells. In humans and animal models, these mutations cause visual dysfunctions ranging from a mild stationary night blindness to severe, early-onset retinal degeneration. There are mechanistic differences between mutations causing night blindness and those causing...
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