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Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M. Georgiou M, et al. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. Clin Exp Ophthalmol. 2021. PMID: 33686777 Review.
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Leber congenital amaurosis …
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: …
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 …
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. Ahmad A, et al. Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16. Mol Vis. 2011. PMID: 21850168 Free PMC article.
LCA in the family cosegregated with homozygosity for a single nucleotide polymorphism (SNP) haplotype on chromosome 6p14.1. The respective candidate region contained Leber congenital amaurosis 5 (LCA5), a gene previously reported to underlie LCA. ...
LCA in the family cosegregated with homozygosity for a single nucleotide polymorphism (SNP) haplotype on chromosome 6p14.1. The respective c …
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.
Chen X, Sheng X, Sun X, Zhang Y, Jiang C, Li H, Ding S, Liu Y, Liu W, Li Z, Zhao C. Chen X, et al. Sci Rep. 2016 Apr 12;6:24357. doi: 10.1038/srep24357. Sci Rep. 2016. PMID: 27067258 Free PMC article.
Comprehensive genetic screening approach revealed biallelic missense mutations in the Leber congenital amaurosis 5 (LCA5) gene, p.[Ala212Pro];[Tyr441Cys], as disease causative for this family. ...
Comprehensive genetic screening approach revealed biallelic missense mutations in the Leber congenital amaurosis 5 …