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Quoted phrase not found in phrase index: "Leber congenital amaurosis 14"
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Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y. Xu K, et al. Br J Ophthalmol. 2020 Jul;104(7):932-937. doi: 10.1136/bjophthalmol-2019-314281. Epub 2019 Oct 19. Br J Ophthalmol. 2020. PMID: 31630094
BACKGROUND: Leber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically and genetically heterogeneous inherited retinal disorders that cause severe visual impairment in children. ...We detected 158 different disease-causin …
BACKGROUND: Leber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically and geneti …
Available Evidence on Leber Congenital Amaurosis and Gene Therapy.
Alkharashi M, Fulton AB. Alkharashi M, et al. Semin Ophthalmol. 2017;32(1):14-21. doi: 10.1080/08820538.2016.1228383. Epub 2016 Sep 29. Semin Ophthalmol. 2017. PMID: 27686653 Review.
Leber congenital amaurosis (LCA) is a group of severe inherited retinal dystrophies that lead to early childhood blindness. ...
Leber congenital amaurosis (LCA) is a group of severe inherited retinal dystrophies that lead to early childhood blindn …
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free article.
OBJECTIVE: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future therapeutic trials. ...The integrity of the ell …
OBJECTIVE: To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with t …
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%), …
To report the spectrum of Leber congenital amaurosis (LCA) associated genes in a large German cohort and to delineate t …
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 …
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. ...Hyperopia was reported in 13 of the 17 subjects (71% …
PURPOSE: To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LC …
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.
McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA. McAnany JJ, et al. JAMA Ophthalmol. 2013 Feb;131(2):178-82. doi: 10.1001/2013.jamaophthalmol.354. JAMA Ophthalmol. 2013. PMID: 23411883 Free PMC article.
OBJECTIVE: To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene. ...The main outcome measures included the best-corrected VA at the initial and most recent visits, as well as th …
OBJECTIVE: To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mu …
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ. Khan AO, et al. Br J Ophthalmol. 2014 Dec;98(12):1724-8. doi: 10.1136/bjophthalmol-2014-305122. Epub 2014 Jul 4. Br J Ophthalmol. 2014. PMID: 24997176
BACKGROUND: Leber congenital amaurosis (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than neurodevelopmental delay, reported in up to 20% of cases according to one older study. ...METHODS: Retrospective consecutive case series (201 …
BACKGROUND: Leber congenital amaurosis (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than n …
Genetic spectrum of retinal dystrophies in Tunisia.
Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L. Habibi I, et al. Sci Rep. 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. Sci Rep. 2020. PMID: 32641690 Free PMC article.
The most prevalent pathogenic variants were observed in ABCA4 (14%) and RPE65, CRB1 and CERKL (8% each). 26 variants (8 novel and 18 known) in 19 genes were identified in 26 families (14 missense substitutions, 5 deletions, 4 nonsense pathogenic variants and 3 splic …
The most prevalent pathogenic variants were observed in ABCA4 (14%) and RPE65, CRB1 and CERKL (8% each). 26 variants (8 novel and 18 …
Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis.
Deng C, Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera TK, Khan N, Besirli CG. Deng C, et al. Graefes Arch Clin Exp Ophthalmol. 2022 May;260(5):1543-1550. doi: 10.1007/s00417-021-05508-2. Epub 2022 Jan 10. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 35001204 Free PMC article.
PURPOSE: To investigate real-world safety and efficacy of voretigene neparvovec gene therapy administration in pediatric patients with biallelic RPE65 disease-causing variants. METHODS: A retrospective study of 27 eyes of 14 patients with RPE65-associated Leber c …
PURPOSE: To investigate real-world safety and efficacy of voretigene neparvovec gene therapy administration in pediatric patients with biall …
38 results