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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 …
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Ma DJ, et al. BMC Med Genomics. 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. BMC Med Genomics. 2021. PMID: 33691693 Free PMC article.
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines, in silico prediction tools, published literature, and compatibility wit …
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Associati …
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS. Uyhazi KE, et al. Invest Ophthalmol Vis Sci. 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. Invest Ophthalmol Vis Sci. 2020. PMID: 32428231 Free PMC article.
PURPOSE: To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with mutations in LCA5. METHODS: Five patients (ages 6-31) with LCA and biallelic LCA5 mutations underwent an ophthalmic examination including o …
PURPOSE: To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with …
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 …
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Dharmaraj SR, et al. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546
Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characterized by severe visual loss from birth, nystagmus, poor pupillary reflexes, retinal pigmentary or atrophic changes, and a markedly diminished e …
Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characteriz …
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Wang S, Zhang Q, Zhang X, Wang Z, Zhao P. Wang S, et al. Graefes Arch Clin Exp Ophthalmol. 2016 Nov;254(11):2227-2238. doi: 10.1007/s00417-016-3428-5. Epub 2016 Jul 16. Graefes Arch Clin Exp Ophthalmol. 2016. PMID: 27422788
PURPOSE: To study the genotype-phenotype characteristics of Leber congenital amaurosis (LCA) in the Chinese eastern coast Han population. METHODS: Children with strictly defined LCA with novel mutations of known LCA genes identified by targeted next-generatio …
PURPOSE: To study the genotype-phenotype characteristics of Leber congenital amaurosis (LCA) in the Chinese eastern coa …
The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.
Hernandez CC, Gimenez LE, Dahir NS, Peisley A, Cone RD. Hernandez CC, et al. Am J Physiol Cell Physiol. 2023 Mar 1;324(3):C694-C706. doi: 10.1152/ajpcell.00335.2022. Epub 2023 Jan 30. Am J Physiol Cell Physiol. 2023. PMID: 36717105 Free PMC article. Review.
Accordingly, retinopathy-associated Kir7.1 mutations mapped at the binding site for PIP(2) resulted in channel gating defects leading to channelopathies such as snowflake vitreoretinal degeneration and Leber congenital amaurosis in blind patients. Lately, thi …
Accordingly, retinopathy-associated Kir7.1 mutations mapped at the binding site for PIP(2) resulted in channel gating defects leading to cha …
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM. Walia S, et al. Ophthalmology. 2010 Jun;117(6):1190-8. doi: 10.1016/j.ophtha.2009.09.056. Epub 2010 Jan 15. Ophthalmology. 2010. PMID: 20079931
PURPOSE: To correlate visual acuity of patients with Leber's congenital amaurosis (LCA) and early childhood-onset retinitis pigmentosa (RP) with mutations in underlying LCA genes. ...Onset of visual symptoms after infancy was associated with a relatively bett …
PURPOSE: To correlate visual acuity of patients with Leber's congenital amaurosis (LCA) and early childhood-onset retin …
Visual improvement in Leber congenital amaurosis and the CRX genotype.
Koenekoop RK, Loyer M, Dembinska O, Beneish R. Koenekoop RK, et al. Ophthalmic Genet. 2002 Mar;23(1):49-59. doi: 10.1076/opge.23.1.49.2200. Ophthalmic Genet. 2002. PMID: 11910559
PURPOSE: In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. ...We identified a heterozygous CRX mutation, A177Delta1bp (529delG), in both affected individuals, …
PURPOSE: In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phe …
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW. Jacobson SG, et al. Arch Ophthalmol. 2012 Jan;130(1):9-24. doi: 10.1001/archophthalmol.2011.298. Epub 2011 Sep 12. Arch Ophthalmol. 2012. PMID: 21911650 Free PMC article. Clinical Trial.
OBJECTIVE: To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene. ...Other patients with better foveal structure lost retinal …
OBJECTIVE: To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis …
35 results