نتایج جستجو برای: congenital stationary night blindness
تعداد نتایج: 223938 فیلتر نتایج به سال:
This is the first report of benign adult familial myoclonic epilepsy (BAFME) with night blindness. Our cases of BAFME (mother, son, and daughter) demonstrated night blindness with a reduced b-wave response on electroretinography (ERG) suggesting an alteration in calcium-mediated neurotransmitter release from photoreceptors in response to light. Several familial epilepsies have been shown to be ...
Congenital stationary night blindness (CSNB) is an inherited and non-progressive retinal dysfunction. Here, we present the crystal structure of CSNB-causing T94I2.61 rhodopsin in the active conformation at 2.3 Å resolution. The introduced hydrophobic side chain prolongs the lifetime of the G protein activating metarhodopsin-II state by establishing a direct van der Waals contact with K2967.43, ...
Focal macular cone electroretinograms (ERGs) and multifocal ERGs were recorded to study the macular function in patients with the complete-type of congenital stationary night blindness (cCSNB). The waveforms of the focal macular cone ERGs and the on- and off-responses of the multifocal ERGs in the cCSNB patients were similar to those recorded from monkey retinas treated with L-2 amino-4-phospho...
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