Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association
Author:
Funder
Retina Research Foundation
Research to Prevent Blindness
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
http://link.springer.com/article/10.1007/s10633-018-9651-0/fulltext.html
Reference20 articles.
1. Zeitz C, Robson AG, Audo I (2015) Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res 45C:58–110
2. Schubert G, Bornschein H (1952) Analysis of the human electroretinogram. Ophthalmologica 123(6):396–413
3. Riggs LA (1954) Electroretinography in cases of night blindness. Am J Ophthalmol 38(1):70–78
4. Dryja TP, Berson EL, Rao VR, Oprian DD (1993) Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet 4(3):280–283
5. Rao VR, Cohen GB, Oprian DD (1994) Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 367(6464):639–642
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