Night Blindness, Congenital Stationary, CSNB1C
Search For A Disorder
References
Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV. Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children. JAMA Ophthalmol. 2018 Mar 8. doi: 10.1001/jamaophthalmol.2018.0185. [Epub ahead of print].
Al Oreany AA, Al Hadlaq A, Schatz P. Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer. Graefes Arch Clin Exp Ophthalmol. 2016 Apr 15. [Epub ahead of print].
Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010 Sep;29(5):335-75.
Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet. 2009 Nov;85(5):711-9.
van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet.2009 Nov;85(5):730-6.