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Quoted phrase not found in phrase index: "Leber congenital amaurosis 11"
Page 1
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK. Chiu W, et al. Int J Mol Sci. 2021 Apr 26;22(9):4534. doi: 10.3390/ijms22094534. Int J Mol Sci. 2021. PMID: 33926102 Free PMC article. Review.
Among these clinical trials, voretigene neparvovec-rzyl (Luxturna), an adeno-associated virus vector-based gene therapy drug, was approved by the FDA for treating patients with confirmed biallelic RPE65 mutation-associated Leber Congenital Amaurosis (LCA) in …
Among these clinical trials, voretigene neparvovec-rzyl (Luxturna), an adeno-associated virus vector-based gene therapy drug, was approved b …
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. Maguire AM, et al. N Engl J Med. 2008 May 22;358(21):2240-8. doi: 10.1056/NEJMoa0802315. Epub 2008 Apr 27. N Engl J Med. 2008. PMID: 18441370 Free PMC article. Clinical Trial.
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. ...
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. ...
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y. Xu K, et al. Br J Ophthalmol. 2020 Jul;104(7):932-937. doi: 10.1136/bjophthalmol-2019-314281. Epub 2019 Oct 19. Br J Ophthalmol. 2020. PMID: 31630094
BACKGROUND: Leber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically and genetically heterogeneous inherited retinal disorders that cause severe visual impairment in children. ...RESULTS: We identified two diseasing-cau …
BACKGROUND: Leber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically and geneti …
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.
Russell SR, Drack AV, Cideciyan AV, Jacobson SG, Leroy BP, Van Cauwenbergh C, Ho AC, Dumitrescu AV, Han IC, Martin M, Pfeifer WL, Sohn EH, Walshire J, Garafalo AV, Krishnan AK, Powers CA, Sumaroka A, Roman AJ, Vanhonsebrouck E, Jones E, Nerinckx F, De Zaeytijd J, Collin RWJ, Hoyng C, Adamson P, Cheetham ME, Schwartz MR, den Hollander W, Asmus F, Platenburg G, Rodman D, Girach A. Russell SR, et al. Nat Med. 2022 May;28(5):1014-1021. doi: 10.1038/s41591-022-01755-w. Epub 2022 Apr 4. Nat Med. 2022. PMID: 35379979 Free PMC article. Clinical Trial.
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. ...Six patients received sepofarsen 160 g/80 g, and five patients received sepofarsen 320 g/160 g. Ten of 11 (90.9%) patients developed …
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. ... …
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S. Zobor D, et al. Int J Mol Sci. 2023 May 17;24(10):8915. doi: 10.3390/ijms24108915. Int J Mol Sci. 2023. PMID: 37240262 Free PMC article.
To report the spectrum of Leber congenital amaurosis (LCA) associated genes in a large German cohort and to delineate their associated phenotype. ...The most common clinical diagnosis was LCA (53%, 56/105) followed by retinitis pigmentosa (RP, 40%, 42/105), b …
To report the spectrum of Leber congenital amaurosis (LCA) associated genes in a large German cohort and to delineate t …
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M. Rodriguez-Martinez AC, et al. Int J Mol Sci. 2023 Sep 11;24(18):13932. doi: 10.3390/ijms241813932. Int J Mol Sci. 2023. PMID: 37762234 Free PMC article.
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). ...Demographic, clinical data and SD-OCT analy …
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis …
Predictors of Receiving Keratoplasty for Keratoconus.
Thanitcul C, Varadaraj V, Canner JK, Woreta FA, Soiberman US, Srikumaran D. Thanitcul C, et al. Am J Ophthalmol. 2021 Nov;231:11-18. doi: 10.1016/j.ajo.2021.05.013. Epub 2021 May 26. Am J Ophthalmol. 2021. PMID: 34048803
Conditions associated with higher odds of receiving keratoplasty were corneal hydrops (OR 4.87 [95% CI 4.07-5.82]), Leber congenital amaurosis (OR 2.41 [95% CI 1.02-5.71]), sleep apnea (OR 1.46 [95% CI 1.25-1.71]), diabetes mellitus (OR 1.32 [95% CI 1.13-1.54 …
Conditions associated with higher odds of receiving keratoplasty were corneal hydrops (OR 4.87 [95% CI 4.07-5.82]), Leber congenit …
Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.
Gange WS, Sisk RA, Besirli CG, Lee TC, Havunjian M, Schwartz H, Borchert M, Sengillo JD, Mendoza C, Berrocal AM, Nagiel A. Gange WS, et al. Ophthalmol Retina. 2022 Jan;6(1):58-64. doi: 10.1016/j.oret.2021.03.016. Epub 2021 Apr 8. Ophthalmol Retina. 2022. PMID: 33838313 Free PMC article.
PURPOSE: To report an anatomic change following subretinal injection of voretigene neparvovec-rzyl (VN) for RPE65-mediated Leber congenital amaurosis. DESIGN: Multicenter, retrospective chart review. ...Eight of 10 patients (80%) developed bilateral atrophy. …
PURPOSE: To report an anatomic change following subretinal injection of voretigene neparvovec-rzyl (VN) for RPE65-mediated Leber c …
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD. Sallum JMF, et al. Adv Ther. 2022 Mar;39(3):1179-1198. doi: 10.1007/s12325-021-02036-7. Epub 2022 Jan 30. Adv Ther. 2022. PMID: 35098484 Free PMC article. Review.
Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gene are often clinically diagnosed as retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA). This study aimed t …
Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gen …
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L, Ouyang W, Zhang M, Wang H, Li S, Meng X, Yin ZQ. Zhu L, et al. Ophthalmic Genet. 2021 Aug;42(4):392-401. doi: 10.1080/13816810.2021.1904417. Epub 2021 May 10. Ophthalmic Genet. 2021. PMID: 33970760
Purpose: Leber congenital amaurosis (LCA) is one of the earliest inherited retinal dystrophies (IRD) that leads to blindness. ...The current study aimed to present the dominant molecular genetics and clinical features of LCA in the Han population of western C …
Purpose: Leber congenital amaurosis (LCA) is one of the earliest inherited retinal dystrophies (IRD) that leads to blin …
69 results