نتایج جستجو برای: congenital stationary night blindness
تعداد نتایج: 223938 فیلتر نتایج به سال:
underlying visual processing in dim light is well conserved. Individual rod photoreceptors, themselves capable of reliably signaling the absorption of individual photons (6, 9), are pooled in a specialized circuitry referred to as the rod bipolar pathway (17, 49). Following a series of convergent connections in this pathway, the ganglion cells, which are the output cells of the retina, send sig...
Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were det...
It was shown preciously that the physiological basis of congenital night blindness probably involves a defect in neural transmission affecting primarily the scotopic (rod) mechanism. However, spectral sensitivity measurements in the dark-adapted peripheral retina indicate that rod signals, although greatly attenuated, may reach cortical centers. In spite of the decreased sensitivity, measuremen...
PURPOSE Mutations in RHO, PDE6B, and GNAT1 can lead to autosomal dominant congenital stationary night blindness (adCSNB). The study was conducted to identify the genetic defect in a large Swiss family affected with adCSNB and to investigate the pathogenic mechanism of the mutation. METHODS Two affected cousins of a large Swiss family were examined clinically by standard methods: funduscopy, E...
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