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Quoted phrase not found in phrase index: "Leber congenital amaurosis 13"
Page 1
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. ...
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.
Chung DC, Traboulsi EI. Chung DC, et al. J AAPOS. 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. J AAPOS. 2009. PMID: 20006823 Review.
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies, characterized by vision loss, nystagmus, and severe retinal dysfunction. ...
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies, characterized by vision loss …
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. ...There was a consistent improvement in FST with a mean im …
PURPOSE: To report an anatomic change following subretinal injection of voretigene neparvovec-rzyl (VN) for RPE65-mediated Leber c …
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 …
Conditions associated with higher odds of receiving keratoplasty were corneal hydrops (OR 4.87 [95% CI 4.07-5.82]), Leber congenit …
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 …
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 genetic spectrum displayed variants in the following genes: CEP290 (21%), CRB1 (21%), RPE65 (14%), RDH12 ( …
To report the spectrum of Leber congenital amaurosis (LCA) associated genes in a large German cohort and to delineate t …
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.
Miraldi Utz V, Ebert JJ, Brightman DS, Simpson BN, Benoit S, Sisk RA. Miraldi Utz V, et al. Ophthalmic Genet. 2023 Feb;44(1):89-92. doi: 10.1080/13816810.2022.2090011. Epub 2022 Nov 25. Ophthalmic Genet. 2023. PMID: 36426739
PURPOSE: To report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-associated Familial Exudative Vitreoretinopathy (FEVR). MATERIALS AND METHODS: A 6-month-old Caucasian infant presented with poor visual respo …
PURPOSE: To report the concurrent presentation and management of IQCB1-associated Leber Congenital Amaurosis and NDP-as …
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
Bouzia Z, Georgiou M, Hull S, Robson AG, Fujinami K, Rotsos T, Pontikos N, Arno G, Webster AR, Hardcastle AJ, Fiorentino A, Michaelides M. Bouzia Z, et al. Am J Ophthalmol. 2020 Feb;210:59-70. doi: 10.1016/j.ajo.2019.10.019. Epub 2019 Nov 5. Am J Ophthalmol. 2020. PMID: 31704230 Free PMC article.
PURPOSE: To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in preparation for trials of novel therapies. ...Longitudinal assessment of VA showed stability in al …
PURPOSE: To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LC …
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S. Aoun M, et al. Int J Mol Sci. 2021 Jul 5;22(13):7207. doi: 10.3390/ijms22137207. Int J Mol Sci. 2021. PMID: 34281261 Free PMC article. Review.
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. ...
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congeni …
Hyperopia in complicated Leber's congenital amaurosis.
Dagi LR, Leys MJ, Hansen RM, Fulton AB. Dagi LR, et al. Arch Ophthalmol. 1990 May;108(5):709-12. doi: 10.1001/archopht.1990.01070070095043. Arch Ophthalmol. 1990. PMID: 2334331
We studied the refractive status of 13 children with Leber's congenital amaurosis. Seven had the disease complicated by neurological or other systemic abnormalities, while the other 6 patients had only ophthalmic abnormalities. ...The concurrence of hy …
We studied the refractive status of 13 children with Leber's congenital amaurosis. Seven had the disease complic …
42 results