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

Year Number of Results
1998 1
2000 1
2003 1
2007 2
2009 1
2010 1
2011 2
2012 2
2013 2
2014 5
2015 2
2016 3
2017 1
2018 1
2020 1
2021 3
2022 3
2023 4
2024 2

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28 results

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Page 1
Stargardt disease and progress in therapeutic strategies.
Huang D, Heath Jeffery RC, Aung-Htut MT, McLenachan S, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Ophthalmic Genet. 2022 Feb;43(1):1-26. doi: 10.1080/13816810.2021.1966053. Epub 2021 Aug 29. Ophthalmic Genet. 2022. PMID: 34455905 Review.
MATERIALS AND METHODS: A literature review was performed through to June 2021 summarizing the spectrum of retinal phenotypes in STGD1, the molecular biology of ABCA4 protein, the in vivo and in vitro models used to investigate the mechanisms of ABCA4 mutations and current clin …
MATERIALS AND METHODS: A literature review was performed through to June 2021 summarizing the spectrum of retinal phenotypes in STGD1, the m …
Clinical characteristics and current therapies for inherited retinal degenerations.
Sahel JA, Marazova K, Audo I. Sahel JA, et al. Cold Spring Harb Perspect Med. 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. Cold Spring Harb Perspect Med. 2014. PMID: 25324231 Free PMC article. Review.
., rod-cone dystrophy, also known as retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, choroideremia, Usher syndrome, and Bardet-Bidel syndrome) or be restricted to the macula (e.g., Stargardt disease, Best disease, and Sorsby fundus dystrophy), ultim …
., rod-cone dystrophy, also known as retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, choroideremia, Usher syn …
Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration.
Yusuf IH, Burgoyne T, Salman A, McClements ME, MacLaren RE, Charbel Issa P. Yusuf IH, et al. Mol Ther. 2024 May 1;32(5):1445-1460. doi: 10.1016/j.ymthe.2024.03.026. Epub 2024 Mar 19. Mol Ther. 2024. PMID: 38504520
Moreover, the durability of CDHR1 gene therapy seems to be near complete-with morphological findings of the rescued retina not obviously different from wildtype throughout the lifespan of the mouse model. A follow-on clinical trial in patients with CDHR1-associated …
Moreover, the durability of CDHR1 gene therapy seems to be near complete-with morphological findings of the rescued retina not obviously dif …
Gene therapy for Stargardt disease associated with ABCA4 gene.
Han Z, Conley SM, Naash MI. Han Z, et al. Adv Exp Med Biol. 2014;801:719-24. doi: 10.1007/978-1-4614-3209-8_90. Adv Exp Med Biol. 2014. PMID: 24664763 Review.
Many blinding diseases are associated with these mutations including Stargardt's disease (STGD1), cone-rod dystrophy, retinitis pigmentosa (RP), and increased susceptibility to age-related macular degeneration. ...Lentiviral and compacted DNA nanoparticles in …
Many blinding diseases are associated with these mutations including Stargardt's disease (STGD1), cone-rod dystrophy, r …
Gene therapy for Leber congenital amaurosis: advances and future directions.
Hufnagel RB, Ahmed ZM, Corrêa ZM, Sisk RA. Hufnagel RB, et al. Graefes Arch Clin Exp Ophthalmol. 2012 Aug;250(8):1117-28. doi: 10.1007/s00417-012-2028-2. Epub 2012 May 29. Graefes Arch Clin Exp Ophthalmol. 2012. PMID: 22644094 Free PMC article. Review.
Key terms included "Leber congenital amaurosis", LCA, RPE65, "cone-rod dystrophy", "gene therapy", and "human trials" in various combinations. Seminal articles prior to 1996 were selected from primary sources and reviews from the initial search. Articles were …
Key terms included "Leber congenital amaurosis", LCA, RPE65, "cone-rod dystrophy", "gene therapy", and "human trials" i …
Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
Romano F, Lamanna F, Boon CJF, Siligato A, Kalra G, Agarwal A, Medori C, Bertelli M, Pellegrini M, Invernizzi A, Staurenghi G, Salvetti AP. Romano F, et al. Ophthalmol Retina. 2024 May;8(5):509-519. doi: 10.1016/j.oret.2023.10.023. Epub 2023 Nov 3. Ophthalmol Retina. 2024. PMID: 37924945
Each eye was assigned to a phenotype based on age at onset, imaging and ERG: cone dystrophy-bull's-eye maculopathy (CD-BEM, 40 eyes), cone-rod dystrophy (CRD, 12 eyes), Stargardt disease (SD, 28 eyes), late-onset SD (LO-SD, 38 eyes), and fundus flavimaculatus …
Each eye was assigned to a phenotype based on age at onset, imaging and ERG: cone dystrophy-bull's-eye maculopathy (CD-BEM, 40 eyes), con …
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.
To address the last issue, we evaluated gene therapy in the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1)-deficient dog, a model exhibiting a severe cone-rod dystrophy similar to that seen in humans. Subretinal injection of AAV5 (n = 5 …
To address the last issue, we evaluated gene therapy in the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1)-deficient …
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 …
Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.
Galli-Resta L, Falsini B, Rossi G, Piccardi M, Ziccardi L, Fadda A, Minnella A, Marangoni D, Placidi G, Campagna F, Abed E, Bertelli M, Zuntini M, Resta G. Galli-Resta L, et al. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3759-68. doi: 10.1167/iovs.15-18313. Invest Ophthalmol Vis Sci. 2016. PMID: 27415794
PURPOSE: To investigate bilateral symmetry of visual impairment in cone-rod dystrophy (CRD) patients and understand the feasibility of clinical trial designs treating one eye and using the untreated eye as an internal control. ...CONCLUSIONS: Th …
PURPOSE: To investigate bilateral symmetry of visual impairment in cone-rod dystrophy (CRD) patients and understand the …
PENTOSAN POLYSULFATE SODIUM (ELMIRON) MACULOPATHY: A Genetic Perspective.
Kalaw FGP, Ignacio JCI, Wu CY, Ferreyra H, Nudleman E, Baxter SL, Freeman WR, Borooah S. Kalaw FGP, et al. Retina. 2023 Jul 1;43(7):1174-1181. doi: 10.1097/IAE.0000000000003794. Retina. 2023. PMID: 36996461
In addition, full-field electroretinograms (ffERG) were obtained to identify any cone-rod dystrophy. RESULTS: Eleven of 15 patients were women, with a mean age of 69 (range 46-85). ...
In addition, full-field electroretinograms (ffERG) were obtained to identify any cone-rod dystrophy. RESULTS: Eleven of …
28 results