Johns Hopkins researchers identify key electrical activity behind congenital night blindness

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In what they believe is a solution to a 30-year biological mystery, neuroscientists at Johns Hopkins Medicine say they have used genetically engineered mice to address how one mutation in the gene for the light-sensing protein rhodopsin results in congenital stationary night blindness.

May 17 2024Johns Hopkins Medicine The findings, published May 14 in Proceedings of the National Academy of Sciences, demonstrate that the rhodopsin gene mutation, called G90D, produces an unusual background electrical "noise" that desensitizes the eye's rods, those cells in the retina at the back of the eye responsible for nighttime vision, thus causing night blindness.

King-Wai Yau, Ph.D., professor, department of neuroscience, Johns Hopkins University School of Medicine Related StoriesIn most circumstances, rods are very sensitive to light, but in people with night blindness, the rods cannot accurately detect changes in light, and fail to function in the dark. People with this condition require brighter light to see in low-light settings, Yau said.

This enabled the researchers to distinguish between different types of activity produced in mice with the G90D mutation as if little or no equivalent background light were present.

 

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Study suggests high-frequency electrical 'noise' results in congenital night blindnessIn what they believe is a solution to a 30-year biological mystery, neuroscientists at Johns Hopkins Medicine say they have used genetically engineered mice to address how one mutation in the gene for the light-sensing protein rhodopsin results in congenital stationary night blindness.
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