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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. ...Retained photoreceptors were visible within the central retina in all patients with LCA5-LCA, at a level equivalent t …
PURPOSE: To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with …
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 …
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L. Radha Rama Devi A, et al. Pediatr Neurol. 2020 May;106:43-49. doi: 10.1016/j.pediatrneurol.2020.01.012. Epub 2020 Feb 4. Pediatr Neurol. 2020. PMID: 32139166
Joubert syndrome-related disorders include Meckel-Gruber syndrome in 5.1% cases and Leber congenital amaurosis (1.7%). Of the 35 Joubert syndrome-related genes, 11 were identified in these patients, i.e., CEP290, C5ORF, TCTN1, CC2D2A, RPGRP1L, TCTN3, A …
Joubert syndrome-related disorders include Meckel-Gruber syndrome in 5.1% cases and Leber congenital amaurosis (1.7%). …
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 …
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Sarkar H, Moosajee M. Sarkar H, et al. Exp Eye Res. 2019 Nov;188:107793. doi: 10.1016/j.exer.2019.107793. Epub 2019 Sep 7. Exp Eye Res. 2019. PMID: 31505163 Review.
It functions as part of the visual cycle, which is a series of enzymatic reactions required for the regeneration of the visual pigment, and has also been implicated in detoxification of lipid peroxidation products. Mutations in RDH12 have been linked to Leber congenital …
It functions as part of the visual cycle, which is a series of enzymatic reactions required for the regeneration of the visual pigment, and …
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings.
Fazzi E, Signorini SG, Uggetti C, Bianchi PE, Lanners J, Lanzi G. Fazzi E, et al. Am J Med Genet A. 2005 Jan 1;132A(1):13-9. doi: 10.1002/ajmg.a.30301. Am J Med Genet A. 2005. PMID: 15580639
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy that presents in infancy. ...Cognitive development was normal in 24 cases, borderline in five, and subnormal in 11. Mild and nonspecific alterations on MRI were pre …
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy that presents in infancy. ...Co …
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Kiang AS, Kenna PF, Humphries MM, Ozaki E, Koenekoop RK, Campbell M, Farrar GJ, Humphries P. Kiang AS, et al. Genes (Basel). 2020 Nov 27;11(12):1420. doi: 10.3390/genes11121420. Genes (Basel). 2020. PMID: 33261050 Free PMC article. Review.
RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it replenishes the photon capturing 11-cis retinal. …
RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans …
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. ...A total of 50 novel variants were identified, which covered 15 known LCA genes. GUCY2D (17 %), CEP290 (14 %), NMNAT1 ( …
PURPOSE: To study the genotype-phenotype characteristics of Leber congenital amaurosis (LCA) in the Chinese eastern coa …
52 results