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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1976 1
1983 1
1984 1
1986 2
1987 3
1988 1
1989 4
1990 4
1991 1
1993 4
1995 3
1996 2
1997 2
1998 1
1999 4
2000 1
2001 4
2002 3
2003 4
2004 5
2005 4
2006 4
2007 2
2008 5
2009 4
2010 5
2011 3
2012 10
2013 8
2014 11
2015 5
2016 5
2017 4
2018 7
2019 13
2020 12
2021 12
2022 17
2023 7
2024 6

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172 results

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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 (CSNB)), C …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK. Kim AH, et al. Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965. Int J Mol Sci. 2022. PMID: 36499293 Free PMC article.
Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night blindness in childhood with heterogeneous genetic, electrophysical, and clinical characteristics. ...
Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night blindness i …
Nystagmus.
Gottlob I. Gottlob I. Curr Opin Ophthalmol. 2001 Oct;12(5):378-83. doi: 10.1097/00055735-200110000-00010. Curr Opin Ophthalmol. 2001. PMID: 11588502 Review.
Important contributions have been made to the genetics of various forms of nystagmus that represent an essential feature of retinal diseases, such as congenital stationary night blindness, albinism, blue cone monochromatism, and achromatopsia....
Important contributions have been made to the genetics of various forms of nystagmus that represent an essential feature of retinal diseases …
Hereditary retinal disease.
Goodwin P. Goodwin P. Curr Opin Ophthalmol. 2008 May;19(3):255-62. doi: 10.1097/ICU.0b013e3282fc27fc. Curr Opin Ophthalmol. 2008. PMID: 18408503 Review.
SUMMARY: A literature review of the recent discoveries and potential treatments for retinitis pigmentosa, Leber's congenital amaurosis, X-linked retinoschisis, Best's disease, Stargardt's disease, and congenital stationary night blindness is presented, …
SUMMARY: A literature review of the recent discoveries and potential treatments for retinitis pigmentosa, Leber's congenital amaurosis, X-li …
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P. Almutairi F, et al. Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26. Acta Ophthalmol. 2021. PMID: 33369259 Free article. Review.
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. ...
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resu …
Multimodal imaging in Schubert-Bornschein congenital stationary night blindness.
Parodi MB, Arrigo A, Rajabian F, Mansour A, Mercuri S, Starace V, Bordato A, Manitto MP, Martina E, Bandello F. Parodi MB, et al. Ophthalmic Genet. 2023 Aug;44(4):408-413. doi: 10.1080/13816810.2022.2135108. Epub 2022 Oct 13. Ophthalmic Genet. 2023. PMID: 36226416
BACKGROUND: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) fin …
BACKGROUND: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness …
The diagnostic usefulness of the negative electroretinogram.
Fuente García C, González-López JJ, Muñoz-Negrete FJ, Rebolleda G. Fuente García C, et al. Arch Soc Esp Oftalmol (Engl Ed). 2018 Mar;93(3):126-135. doi: 10.1016/j.oftal.2017.10.006. Epub 2017 Dec 6. Arch Soc Esp Oftalmol (Engl Ed). 2018. PMID: 29198644 Review. English, Spanish.
This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies. ...
This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary ni …
Oguchi's disease: two cases and literature review.
Dai Y, Sun T. Dai Y, et al. J Int Med Res. 2021 May;49(5):3000605211019921. doi: 10.1177/03000605211019921. J Int Med Res. 2021. PMID: 34057838 Free PMC article. Review.
Oguchi's disease is a rare form of congenital stationary night blindness, associated with light-dependent golden fundus discoloration. In this report, we describe two cases of Oguchi's disease, both of which had two characteristic features: congenit …
Oguchi's disease is a rare form of congenital stationary night blindness, associated with light-dependent golden …
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I. Zeitz C, et al. Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13. Prog Retin Eye Res. 2015. PMID: 25307992 Review.
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. ...
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retin …
Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI. Iosifidis C, et al. Acta Ophthalmol. 2022 Sep;100(6):e1332-e1339. doi: 10.1111/aos.15186. Epub 2022 May 28. Acta Ophthalmol. 2022. PMID: 35633130 Free article.
PURPOSE: Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders that present in childhood. ...
PURPOSE: Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders th …
172 results