Stationary night blindness

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Stationary Night Blindness, also known as X-linked CSNB/XLCSNB, is a congenital disease that results in low vision perception in dark lighting, The disease is linked to a defect in the X chromosome[1].

The disease is caused by mutations in the NYX and CACNA1F genes which results in a lack of signalling in the retina. CACNA1F is short for calcium voltage-gated channel subunit alpha 1F and is a gene locus of Xp11.23 (where p is the short arm). CACNA1F is important in providing information for the formation of the alpha 1 subunit known as Cav1.4 which is what forms the pore in the calcium channel[2]. NYX is a gene that encodes a protein called nyctalopin also important in the transmission of signals from the eyes to the brain[3].

References

  1. U.S. National Library of Medicine, Genetics Home Reference,https://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness#definition, October 23, 2018
  2. S. Michalakis, L.Shaltiel, V.Sothilingham, S.Koch, V.Schludi, S.Krause, C.Zeitz, I.Audo, M.Lancelot, C.Hamel, I.Meuneir, M.Preising, C.Friedburg, B.Lorenz, N.Zabouri, S.Haverkamp, M.Garrido, N.Tanimoto, M.Seeliger, M.Biel, CA.Wahl Scott. March 10 2017. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. https://www.ncbi.nlm.nih.gov/pubmed/24163243
  3. U.S. National Library of Medicine, Genetics Home Reference. October 23 2018. https://ghr.nlm.nih.gov/gene/NYX
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