Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s10633-020-09759-y.pdf
Reference7 articles.
1. Hayashi T, Tsuzuranuki S, Kozaki K, Urashima M, Tsuneoka H (2011) Macular dysfunction in Oguchi disease with the frequent mutation 1147delA in the SAG gene. Ophthalmic Res 46(4):175–180. https://doi.org/10.1159/000325024
2. Yamamoto S, Sippel KC, Berson EL, Dryja TP (1997) Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 15(2):175–178. https://doi.org/10.1038/ng0297-175
3. Nakazawa M, Wada Y, Fuchs S, Gal A, Tamai M (1997) Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene. Retina 17(1):17–22
4. Vincent A, Shetty R, Yadav NK, Shetty BK (2009) Foveal schisis with Mizuo phenomenon: etio-pathogenesis of tapetal reflex in X-linked retinoschisis. Eye (Lond) 23(5):1240–1241. https://doi.org/10.1038/eye.2008.170
5. Heckenlively JR, Weleber RG (1986) X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo–Nakamura phenomenon. Arch Ophthalmol 104(9):1322–1328. https://doi.org/10.1001/archopht.1986.01050210076029
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