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Page 1
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CS …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.
Hayashi T, Murakami Y, Mizobuchi K, Koyanagi Y, Sonoda KH, Nakano T. Hayashi T, et al. Ophthalmic Genet. 2021 Aug;42(4):412-419. doi: 10.1080/13816810.2021.1904422. Epub 2021 Mar 26. Ophthalmic Genet. 2021. PMID: 33769208
BACKGROUND: Complete congenital stationary night blindness (CSNB) is a retinal disorder thought to be non-progressive. ...
BACKGROUND: Complete congenital stationary night blindness (CSNB) is a retinal disorder thought to be non …
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J. Godara P, et al. Am J Ophthalmol. 2012 Dec;154(6):987-1001.e1. doi: 10.1016/j.ajo.2012.06.003. Epub 2012 Sep 7. Am J Ophthalmol. 2012. PMID: 22959359 Free PMC article.
PURPOSE: To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease. DESIGN: Prospective, observational case series. METHODS: We re …
PURPOSE: To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete conge …
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR. Sergouniotis PI, et al. Acta Ophthalmol. 2012 May;90(3):e192-7. doi: 10.1111/j.1755-3768.2011.02267.x. Epub 2011 Oct 19. Acta Ophthalmol. 2012. PMID: 22008250 Free article.
METHODS: Nine patients from seven families (age range, 7-75; median, 10 years) with a clinical diagnosis of autosomal recessive complete congenital stationary night blindness were ascertained. Clinical examination, imaging and electrophysiologic …
METHODS: Nine patients from seven families (age range, 7-75; median, 10 years) with a clinical diagnosis of autosomal recessive complete …
Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.
Hayashi T, Mizobuchi K, Kikuchi S, Nakano T. Hayashi T, et al. Doc Ophthalmol. 2021 Apr;142(2):265-273. doi: 10.1007/s10633-020-09798-5. Epub 2020 Oct 17. Doc Ophthalmol. 2021. PMID: 33068213
BACKGROUND: Little is known about whether patients with complete congenital stationary night blindness (CSNB) maintain visual function throughout their lifetime. ...
BACKGROUND: Little is known about whether patients with complete congenital stationary night blindness (C …
A common NYX mutation in Flemish patients with X linked CSNB.
Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C. Leroy BP, et al. Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10. Br J Ophthalmol. 2009. PMID: 18617546 Free article.
AIMS: The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. ...
AIMS: The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetica …
12 results