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Results 1 - 2 of 2 for weber congenital amaurosis 1
  1. CACNA1F gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  2. X-linked juvenile retinoschisis 
    ... 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. ...
    https://medlineplus.gov/.../x-linked-juvenile-retinoschisis - Genetics