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Quoted phrase not found in phrase index: "Cone-rod dystrophy 18"
Page 1
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 …
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 …
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF. Talib M, et al. Acta Ophthalmol. 2021 May;99(3):e402-e414. doi: 10.1111/aos.14597. Epub 2021 Feb 2. Acta Ophthalmol. 2021. PMID: 33528094 Free PMC article.
RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dystrophy (n = 2; GI) or macular dystrophy (n = 1; non-GI). ...Imaging and functional studies in a prospective longitudinal setting should clarify which endpoints may be most …
RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dystrophy (n = 2; GI) or macular dystro …
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. ...MATERIALS AND METHODS: The patient's medical notes were retrospectively reviewed over an 18-month period. Gen …
BACKGROUND: Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A ( …
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Casalino G, Khan KN, Armengol M, Wright G, Pontikos N, Georgiou M, Webster AR, Robson AG, Grewal PS, Michaelides M. Casalino G, et al. Ophthalmology. 2021 May;128(5):706-718. doi: 10.1016/j.ophtha.2020.10.006. Epub 2020 Oct 8. Ophthalmology. 2021. PMID: 33039401 Free PMC article.
PURPOSE: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. ...A reduction in central retinal thickness was detected in most eyes (80.4%) over the course of f …
PURPOSE: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) …
Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy.
Charng J, Lamey TM, Thompson JA, McLaren TL, Attia MS, McAllister IL, Constable IJ, Mackey DA, De Roach JN, Chen FK. Charng J, et al. Transl Vis Sci Technol. 2020 Sep 9;9(10):9. doi: 10.1167/tvst.9.10.9. eCollection 2020 Sep. Transl Vis Sci Technol. 2020. PMID: 32974081 Free PMC article.
We perform cross-sectional and longitudinal analysis on microperimetry parameters in USH2A retinopathy and explore end points suitable for future clinical trials. METHODS: Microperimetry was performed using two grids, Grid 1 (18 diameter) and Grid 2 (6 diameter). .. …
We perform cross-sectional and longitudinal analysis on microperimetry parameters in USH2A retinopathy and explore end points suitable for f …
Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial.
Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R. Siqueira RC, et al. Retina. 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. Retina. 2011. PMID: 21293313 Clinical Trial.
PURPOSE: To evaluate the short-term (10 months) safety of a single intravitreal injection of autologous bone marrow-derived mononuclear cells in patients with retinitis pigmentosa or cone-rod dystrophy. METHODS: A prospective, Phase I, nonrandomized, open-lab …
PURPOSE: To evaluate the short-term (10 months) safety of a single intravitreal injection of autologous bone marrow-derived mononuclear cell …
Pattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature.
Georgakopoulos CD, Tsapardoni F, Kostopoulou EV, Makri OE. Georgakopoulos CD, et al. BMC Ophthalmol. 2018 Sep 12;18(1):246. doi: 10.1186/s12886-018-0911-2. BMC Ophthalmol. 2018. PMID: 30208862 Free PMC article.
CASE PRESENTATION: We report two cases of bilateral macular pattern dystrophy in transfusion dependent patients undergoing chronic chelation therapy with deferoxamine due to thalassemias. Our patients were evaluated with multimodal imaging and the results are presented. Bo …
CASE PRESENTATION: We report two cases of bilateral macular pattern dystrophy in transfusion dependent patients undergoing chronic ch …