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weber congenital amaurosis 1
- ... Hoda JC, Zaghetto F, Koschak A, Striessnig J. Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. J Neurosci. 2005 ...
- ... eye abnormalities can further impair vision or cause blindness. The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 men worldwide. ...