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Quoted phrase not found in phrase index: "Leber congenital amaurosis 13"
Page 1
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.
Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R. Holtan JP, et al. Acta Ophthalmol. 2020 May;98(3):286-295. doi: 10.1111/aos.14218. Epub 2019 Aug 19. Acta Ophthalmol. 2020. PMID: 31429209 Free article.
The most prevalent diseases were as follows: retinitis pigmentosa (54%), Stargardt macular dystrophy (6.5%) and Leber congenital amaurosis (5.2%). A genetic diagnosis was identified in 32% of patients. ...
The most prevalent diseases were as follows: retinitis pigmentosa (54%), Stargardt macular dystrophy (6.5%) and Leber congenital …
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 …
Leber's congenital amaurosis: an update.
Fazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G. Fazzi E, et al. Eur J Paediatr Neurol. 2003;7(1):13-22. doi: 10.1016/s1090-3798(02)00135-6. Eur J Paediatr Neurol. 2003. PMID: 12615170 Review.
Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin w …
Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss …
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 …
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 …
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 …
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 …
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 …
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
Wu S, Yuan Z, Sun Z, Yao F, Sui R. Wu S, et al. Am J Med Genet A. 2022 Mar;188(3):948-952. doi: 10.1002/ajmg.a.62582. Epub 2021 Nov 25. Am J Med Genet A. 2022. PMID: 34821467
In addition to the systemic manifestations, ophthalmic features can be present and include retinitis pigmentosa, optic atrophy, cone-rod dystrophy, maculopathy, and Leber congenital amaurosis. Here we report a 6-year-old boy presenting severe early-onset reti …
In addition to the systemic manifestations, ophthalmic features can be present and include retinitis pigmentosa, optic atrophy, cone-rod dys …
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 …
52 results