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

Year Number of Results
1963 2
1964 3
1965 1
1967 2
1968 3
1969 7
1970 9
1971 6
1972 7
1973 9
1974 11
1975 4
1976 7
1977 3
1978 3
1979 3
1980 4
1981 4
1982 5
1983 4
1984 1
1985 8
1986 4
1987 6
1988 15
1989 14
1990 16
1991 15
1992 18
1993 20
1994 22
1995 25
1996 25
1997 25
1998 22
1999 24
2000 18
2001 31
2002 34
2003 28
2004 33
2005 43
2006 34
2007 28
2008 43
2009 42
2010 40
2011 38
2012 65
2013 51
2014 64
2015 56
2016 82
2017 59
2018 89
2019 69
2020 70
2021 94
2022 83
2023 75
2024 2

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1,483 results

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Page 1
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. ...In addition, we discuss the genes involved in the pathogenesis of RP, as well as the retinal processes …
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of ro …
[Gene therapy for retinitis pigmentosa].
Ducloyer JB, Le Meur G, Cronin T, Adjali O, Weber M. Ducloyer JB, et al. Med Sci (Paris). 2020 Jun-Jul;36(6-7):607-615. doi: 10.1051/medsci/2020095. Epub 2020 Jul 2. Med Sci (Paris). 2020. PMID: 32614312 Free article. Review. French.
Retinitis pigmentosa is the most common blinding inherited retinal dystrophy. Gene therapy is a burgeoning revolutionary approach that paves the way to treatment of previously incurable diseases. ...
Retinitis pigmentosa is the most common blinding inherited retinal dystrophy. Gene therapy is a burgeoning revolutionary appro …
Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies.
Liu W, Liu S, Li P, Yao K. Liu W, et al. Int J Mol Sci. 2022 Apr 28;23(9):4883. doi: 10.3390/ijms23094883. Int J Mol Sci. 2022. PMID: 35563274 Free PMC article. Review.
Retinitis pigmentosa (RP) is genetically heterogeneous retinopathy caused by photoreceptor cell death and retinal pigment epithelial atrophy that eventually results in blindness in bilateral eyes. ...
Retinitis pigmentosa (RP) is genetically heterogeneous retinopathy caused by photoreceptor cell death and retinal pigment epithelial …
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M. Georgiou M, et al. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. Clin Exp Ophthalmol. 2021. PMID: 33686777 Review.
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. ...The scope of this review is to familiarise clinicians and scientists with the current management and the prosp …
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor de …
Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.
Maguire AM, Bennett J, Aleman EM, Leroy BP, Aleman TS. Maguire AM, et al. Mol Ther. 2021 Feb 3;29(2):442-463. doi: 10.1016/j.ymthe.2020.11.029. Epub 2020 Dec 3. Mol Ther. 2021. PMID: 33278565 Free PMC article. Review.
Until recently, there was no approved treatment for a retinal degenerative disease. Subretinal injection of a recombinant adeno-associated virus (AAV) delivering the normal copy of the human RPE65 cDNA led to reversal of blindness first in animal models and then in humans. …
Until recently, there was no approved treatment for a retinal degenerative disease. Subretinal injection of a recombinant adeno-assoc …
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.
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without syndromic features. ...We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and con …
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary condi …
Genes and mutations causing retinitis pigmentosa.
Daiger SP, Sullivan LS, Bowne SJ. Daiger SP, et al. Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. Clin Genet. 2013. PMID: 23701314 Free PMC article. Review.
NGS has identified several novel RP genes but a substantial fraction of previously unsolved cases have mutations in genes that are known causes of retinal disease but not necessarily RP. Apparent discrepancy between the molecular defect and clinical findings may warrant re …
NGS has identified several novel RP genes but a substantial fraction of previously unsolved cases have mutations in genes that are known cau …
Retinitis Pigmentosa (Non-syndromic).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:125-130. doi: 10.1007/978-3-319-95046-4_25. Adv Exp Med Biol. 2018. PMID: 30578498 Review.
Clinically, it shows all the classic features of RP, such as attenuated retinal blood vessels, intraretinal pigmentation, waxy pallor of the optic disc, and hyperfluorescent rings on fundus autofluorescence (FAF) (Figs. 25.1, 25.2 and 25.3). The ring is suggestive of incre …
Clinically, it shows all the classic features of RP, such as attenuated retinal blood vessels, intraretinal pigmentation, waxy pallor …
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D. Schneider N, et al. Prog Retin Eye Res. 2022 Jul;89:101029. doi: 10.1016/j.preteyeres.2021.101029. Epub 2021 Nov 25. Prog Retin Eye Res. 2022. PMID: 34839010 Review.
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual impairment phenotypes caused by pathogenic variants in at least 277 nuclear and mitochondrial genes, affecting different retinal regions, and depleting the vision of affected …
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual impairment phenotypes caused by pathogeni …
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G. Fuster-García C, et al. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723. Int J Mol Sci. 2021. PMID: 34201633 Free PMC article. Review.
1,483 results