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Quoted phrase not found in phrase index: "Cone-rod dystrophy 24"
Page 1
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN. Britten-Jones AC, et al. Genet Med. 2022 Mar;24(3):521-534. doi: 10.1016/j.gim.2021.10.013. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906485 Free article. Review.
A comprehensive literature search was performed in Ovid MEDLINE, Ovid Embase, Cochrane Central, and clinical trial registries (February 2021). Clinical studies describing DNA-based gene therapy treatments for monogenic posterior ocular diseases were eligible …
A comprehensive literature search was performed in Ovid MEDLINE, Ovid Embase, Cochrane Central, and clinical trial registries …
Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.
Lhériteau E, Petit L, Weber M, Le Meur G, Deschamps JY, Libeau L, Mendes-Madeira A, Guihal C, François A, Guyon R, Provost N, Lemoine F, Papal S, El-Amraoui A, Colle MA, Moullier P, Rolling F. Lhériteau E, et al. Mol Ther. 2014 Feb;22(2):265-277. doi: 10.1038/mt.2013.232. Epub 2013 Oct 4. Mol Ther. 2014. PMID: 24091916 Free PMC article.
For inherited retinal dystrophies primarily involving photoreceptor cells, the efficacy of gene therapy has been demonstrated in canine models of stationary cone dystrophies and progressive rod-cone dystrophies but not in large models of …
For inherited retinal dystrophies primarily involving photoreceptor cells, the efficacy of gene therapy has been demonstrated in cani …
Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.
Ku CA, Chiodo VA, Boye SL, Hayes A, Goldberg AF, Hauswirth WW, Ramamurthy V. Ku CA, et al. Hum Mol Genet. 2015 Feb 1;24(3):670-84. doi: 10.1093/hmg/ddu487. Epub 2014 Sep 30. Hum Mol Genet. 2015. PMID: 25274777 Free PMC article.
Defects in aryl hydrocarbon receptor interacting protein-like1 (AIPL1) are associated with blinding diseases with a wide range of severity in humans. We examined the mechanism behind autosomal dominant cone-rod dystrophy (adCORD) caused by 12 base pair (bp) d …
Defects in aryl hydrocarbon receptor interacting protein-like1 (AIPL1) are associated with blinding diseases with a wide range of severity i …
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.
Warwick AN, Shawkat F, Lotery AJ. Warwick AN, et al. Ophthalmic Genet. 2017 Mar-Apr;38(2):178-182. doi: 10.1080/13816810.2016.1183215. Epub 2016 May 13. Ophthalmic Genet. 2017. PMID: 27176872
BACKGROUND: Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A (Arg820His) mutation. ...This could imply that the RIM1 mutation causes diverse retinal dystrophies, or that the previously described …
BACKGROUND: Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A ( …
A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.
Liu PK, Ryu J, Yeh LK, Chen KJ, Tsang SH, Liu L, Wang NK. Liu PK, et al. Ophthalmic Genet. 2021 Aug;42(4):458-463. doi: 10.1080/13816810.2021.1920039. Epub 2021 May 7. Ophthalmic Genet. 2021. PMID: 33960280 Free PMC article.
BACKGROUND: Cone dystrophy with supernormal rod response (CDSRR) is a rare inherited retinal degeneration. ...The full-field electroretinography (ffERG) revealed a disproportionate increase in scotopic maximal response with implicit time delay, as well as uni …
BACKGROUND: Cone dystrophy with supernormal rod response (CDSRR) is a rare inherited retinal degeneration. ...The full- …
Presumed Unindicated Implantation of Posterior Chamber Phakic Intraocular Lens.
Almubaiyd AM, Bin Helayel H, Al-Swailem SA. Almubaiyd AM, et al. Am J Case Rep. 2023 Jun 30;24:e939940. doi: 10.12659/AJCR.939940. Am J Case Rep. 2023. PMID: 37386760 Free PMC article.
We present a case of a young adult women with poor vision who underwent bilateral posterior chamber phakic intraocular lens explantation due to high vault, shallow anterior chambers, and a picture of cone-rod dystrophy. CASE REPORT A 23-year-old woman was ref …
We present a case of a young adult women with poor vision who underwent bilateral posterior chamber phakic intraocular lens explantation due …