Article
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
Investigative ophthalmology & visual science - 1 Nov 2005
Zeitz Christina, van Genderen Maria, Neidhardt John, Luhmann Ulrich F O, Hoeben Frank, Forster Ursula, Wycisk Katharina, Mátyás Gábor, Hoyng Carel B, Riemslag Frans, Meire Françoise, Cremers Frans P M, Berger Wolfgang
Abstract excerpt
PURPOSE: Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision that occurs in autosomal dominant, autosomal recessive, or X-linked forms. Autosomal recessive (ar)CSNB seems to be very rare. Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the...
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