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97 results

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Page 1
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases affect over 30 million Americans. For more than 30 years, hundreds of researchers have maintained that genetic modifications would provide effective treatments for many inherited human …
Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases affect over 30 million Americans. For more th …
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.
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Leber congenital amaurosis, (5) rod-cone dys …
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: …
Hereditary Retinal Dystrophy.
Hohman TC. Hohman TC. Handb Exp Pharmacol. 2017;242:337-367. doi: 10.1007/164_2016_91. Handb Exp Pharmacol. 2017. PMID: 28035529 Review.
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, caused by …
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies in …
Nephronophthisis.
Salomon R, Saunier S, Niaudet P. Salomon R, et al. Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Epub 2008 Jul 8. Pediatr Nephrol. 2009. PMID: 18607645 Free PMC article. Review.
The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Loken syndrome), mental retardation, cerebellar ataxia, bone ano …
The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children p …
Vascular dysfunction in retinitis pigmentosa.
Lang M, Harris A, Ciulla TA, Siesky B, Patel P, Belamkar A, Mathew S, Verticchio Vercellin AC. Lang M, et al. Acta Ophthalmol. 2019 Nov;97(7):660-664. doi: 10.1111/aos.14138. Epub 2019 May 17. Acta Ophthalmol. 2019. PMID: 31099494 Free article. Review.
The relationship between ocular haemodynamics and retinitis pigmentosa (RP) has not been fully understood. Reductions in blood flow have been established in RP patients by a variety of studies; however, questions have yet to be answered regarding the role of vascula …
The relationship between ocular haemodynamics and retinitis pigmentosa (RP) has not been fully understood. Reductions in blood …
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M. Bhardwaj A, et al. Indian J Ophthalmol. 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. Indian J Ophthalmol. 2022. PMID: 35791117 Free PMC article. Review.
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...
Approach to inherited retinal diseases.
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T. Ratra D, et al. Indian J Ophthalmol. 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. Indian J Ophthalmol. 2022. PMID: 35791111 Free PMC article. Review.
Precision Medicine Trials in Retinal Degenerations.
Levi SR, Ryu J, Liu PK, Tsang SH. Levi SR, et al. Annu Rev Vis Sci. 2021 Sep 15;7:851-865. doi: 10.1146/annurev-vision-100419-111701. Annu Rev Vis Sci. 2021. PMID: 34524878 Review.
In this review, we present recent, ongoing, and future gene therapy-based treatment trials for choroideremia, X-linked retinitis pigmentosa, Stargardt disease, and age-related macular degeneration. ...
In this review, we present recent, ongoing, and future gene therapy-based treatment trials for choroideremia, X-linked retinitis p …
Review and update: current treatment trends for patients with retinitis pigmentosa.
Shintani K, Shechtman DL, Gurwood AS. Shintani K, et al. Optometry. 2009 Jul;80(7):384-401. doi: 10.1016/j.optm.2008.01.026. Optometry. 2009. PMID: 19545852 Review.
BACKGROUND: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders characterized by progressive photoreceptor apoptosis. ...
BACKGROUND: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders characterized by progressive pho …
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males.
Vinikoor-Imler LC, Simpson C, Narayanan D, Abbasi S, Lally C. Vinikoor-Imler LC, et al. Ophthalmic Genet. 2022 Oct;43(5):581-588. doi: 10.1080/13816810.2022.2109686. Epub 2022 Aug 25. Ophthalmic Genet. 2022. PMID: 36004681 Review.
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. MATERIALS AND METHODS: A comprehensive literature review was conducted to determine the prevalence of retinitis pigmentosa GTPase regula …
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. MATERIALS …
97 results