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Quoted phrase not found in phrase index: "Leber congenital amaurosis 3"
Page 1
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 …
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K. Verma IC, et al. Indian J Pediatr. 2018 Mar;85(3):228-236. doi: 10.1007/s12098-017-2453-7. Epub 2017 Oct 2. Indian J Pediatr. 2018. PMID: 28971364 Review.
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. ...The common eye disorders for which genetic testing is commonly req …
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling …
Gene Therapy in Retinal Dystrophies.
Ziccardi L, Cordeddu V, Gaddini L, Matteucci A, Parravano M, Malchiodi-Albedi F, Varano M. Ziccardi L, et al. Int J Mol Sci. 2019 Nov 14;20(22):5722. doi: 10.3390/ijms20225722. Int J Mol Sci. 2019. PMID: 31739639 Free PMC article. Review.
The methodologic developments in genome sequencing techniques that we have witnessed in this last decade have represented a turning point not only in diagnosis and prognosis but, above all, in the identification of new therapeutic perspectives. ...Several clinical trials a …
The methodologic developments in genome sequencing techniques that we have witnessed in this last decade have represented a turning point no …
Hereditary retinal disease.
Goodwin P. Goodwin P. Curr Opin Ophthalmol. 2008 May;19(3):255-62. doi: 10.1097/ICU.0b013e3282fc27fc. Curr Opin Ophthalmol. 2008. PMID: 18408503 Review.
SUMMARY: A literature review of the recent discoveries and potential treatments for retinitis pigmentosa, Leber's congenital amaurosis, X-linked retinoschisis, Best's disease, Stargardt's disease, and congenital stationary night blindness is presented, …
SUMMARY: A literature review of the recent discoveries and potential treatments for retinitis pigmentosa, Leber's congenital …
Long-term effect of gene therapy on Leber's congenital amaurosis.
Bainbridge JW, Mehat MS, Sundaram V, Robbie SJ, Barker SE, Ripamonti C, Georgiadis A, Mowat FM, Beattie SG, Gardner PJ, Feathers KL, Luong VA, Yzer S, Balaggan K, Viswanathan A, de Ravel TJ, Casteels I, Holder GE, Tyler N, Fitzke FW, Weleber RG, Nardini M, Moore AT, Thompson DA, Petersen-Jones SM, Michaelides M, van den Born LI, Stockman A, Smith AJ, Rubin G, Ali RR. Bainbridge JW, et al. N Engl J Med. 2015 May 14;372(20):1887-97. doi: 10.1056/NEJMoa1414221. Epub 2015 May 4. N Engl J Med. 2015. PMID: 25938638 Free PMC article. Clinical Trial.
BACKGROUND: Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that severely impairs sight in children. ...METHODS: We performed a phase 1-2 open-label trial involving 12 participants to evaluate the safety and e …
BACKGROUND: Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that seve …
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 …
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.
Perrault I, Hanein S, Gérard X, Mounguengue N, Bouyakoub R, Zarhrate M, Fourrage C, Jabot-Hanin F, Bocquet B, Meunier I, Zanlonghi X, Kaplan J, Rozet JM. Perrault I, et al. Genes (Basel). 2021 Feb 18;12(2):287. doi: 10.3390/genes12020287. Genes (Basel). 2021. PMID: 33670832 Free PMC article.
Leber congenital amaurosis (LCA) encompasses the earliest and most severe retinal dystrophies and can occur as a non-syndromic or a syndromic disease. Molecular diagnosis in LCA is of particular importance in clinical decision-making and patient care since it …
Leber congenital amaurosis (LCA) encompasses the earliest and most severe retinal dystrophies and can occur as a non-sy …
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 …
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration.
Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, Rossi S, Marshall K, Banfi S, Surace EM, Sun J, Redmond TM, Zhu X, Shindler KS, Ying GS, Ziviello C, Acerra C, Wright JF, McDonnell JW, High KA, Bennett J, Auricchio A. Simonelli F, et al. Mol Ther. 2010 Mar;18(3):643-50. doi: 10.1038/mt.2009.277. Epub 2009 Dec 1. Mol Ther. 2010. PMID: 19953081 Free PMC article. Clinical Trial.
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal recessive blinding disease. ...
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital …
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.
Le Meur G, Lebranchu P, Billaud F, Adjali O, Schmitt S, Bézieau S, Péréon Y, Valabregue R, Ivan C, Darmon C, Moullier P, Rolling F, Weber M. Le Meur G, et al. Mol Ther. 2018 Jan 3;26(1):256-268. doi: 10.1016/j.ymthe.2017.09.014. Epub 2017 Sep 19. Mol Ther. 2018. PMID: 29033008 Free PMC article.
The aim of this study was the evaluation of the safety and efficacy of unilateral subretinal injection of the adeno-associated vector (AAV) serotypes 2 and 4 (AAV2/4) RPE65-RPE65 vector in patients with Leber congenital amaurosis (LCA) associated with RPE65 g …
The aim of this study was the evaluation of the safety and efficacy of unilateral subretinal injection of the adeno-associated vector (AAV) …
63 results