Stationary night blindness: Difference between revisions
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<ref>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</ref> | 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<ref>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</ref>. | ||
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<ref>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. | 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<ref>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</ref>. NYX is a gene that encodes a protein called nyctalopin also important in the transmission of signals from the eyes to the brain<ref>U.S. National Library of Medicine, Genetics Home Reference. October 23 2018. https://ghr.nlm.nih.gov/gene/NYX</ref>. | ||
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Latest revision as of 18:57, 25 October 2018
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
- ↑ 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
- ↑ 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
- ↑ U.S. National Library of Medicine, Genetics Home Reference. October 23 2018. https://ghr.nlm.nih.gov/gene/NYX