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Quoted phrase not found in phrase index: "Leber congenital amaurosis 11"
Page 1
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M. Daich Varela M, et al. Br J Ophthalmol. 2022 Apr;106(4):445-451. doi: 10.1136/bjophthalmol-2020-318483. Epub 2021 Mar 12. Br J Ophthalmol. 2022. PMID: 33712480 Free PMC article. Review.
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. ...Pharmacological approaches intending to decrease photoreceptor degeneration by supplementing 11-cis-retinal and cell therapy's aim to replace the retinal p …
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. ...Pharmacological approa …
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. ... …
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. ...The time course of photoreceptor degeneration in the Lca5gt/gt mouse model and the efficacy of subretinal gene augmen …
PURPOSE: To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with …
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ. Eisenberger T, et al. PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. PLoS One. 2013. PMID: 24265693 Free PMC article.
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. ...
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutation …
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 …
Constitutively active rhodopsin and retinal disease.
Park PS. Park PS. Adv Pharmacol. 2014;70:1-36. doi: 10.1016/B978-0-12-417197-8.00001-8. Adv Pharmacol. 2014. PMID: 24931191 Free PMC article. Review.
Perturbations by mutation or the absence of 11-cis retinal can cause rhodopsin to become constitutively active, which leads to the desensitization of photoreceptor cells and, in some instances, retinal degeneration. Constitutive activity can arise in rhodopsin by various m …
Perturbations by mutation or the absence of 11-cis retinal can cause rhodopsin to become constitutively active, which leads to the de …
Update on the Corneal Dystrophies-Genetic Testing and Therapy.
Weiss JS, Willoughby CE, Abad-Morales V, Turunen JA, Lisch W. Weiss JS, et al. Cornea. 2022 Nov 1;41(11):1337-1344. doi: 10.1097/ICO.0000000000002857. Epub 2022 Jul 4. Cornea. 2022. PMID: 36219210 Review.
Gene therapy is available for an early-onset form of inherited retinal degeneration called Leber congenital amaurosis, but not yet for corneal degenerations. ...
Gene therapy is available for an early-onset form of inherited retinal degeneration called 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%). …
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 …
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Skorczyk-Werner A, Sowińska-Seidler A, Wawrocka A, Walczak-Sztulpa J, Krawczyński MR. Skorczyk-Werner A, et al. J Appl Genet. 2023 Feb;64(1):89-104. doi: 10.1007/s13353-022-00733-9. Epub 2022 Nov 12. J Appl Genet. 2023. PMID: 36369640 Free PMC article.
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies and the most frequent cause of congenital blindness in children. ...Performing an accurate molecular diagnosis is crucial as gene therapy is becoming available. T …
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies and the most frequent cause o …
90 results