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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. ...Methods: Here, we introduce a smMIPs …
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseas …
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 …
Leber's congenital amaurosis.
Mizuno K, Takei Y, Sears ML, Peterson WS, Carr RE, Jampol LM. Mizuno K, et al. Am J Ophthalmol. 1977 Jan;83(1):32-42. doi: 10.1016/0002-9394(77)90188-x. Am J Ophthalmol. 1977. PMID: 835664
An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. ...Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillar …
An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two ch …
Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing.
Jo DH, Jang HK, Cho CS, Han JH, Ryu G, Jung Y, Bae S, Kim JH. Jo DH, et al. Mol Ther Nucleic Acids. 2022 Dec 5;31:16-27. doi: 10.1016/j.omtn.2022.11.021. eCollection 2023 Mar 14. Mol Ther Nucleic Acids. 2022. PMID: 36589710 Free PMC article.
Leber congenital amaurosis (LCA), an inherited retinal degeneration, causes severe visual dysfunction in children and adolescents. ...
Leber congenital amaurosis (LCA), an inherited retinal degeneration, causes severe visual dysfunction in children and a …
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Prog Retin Eye Res. 2024 Jan 24;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 38278208 Review.
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone …
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), B …
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 most common clinical diagnosis was LCA (53%, 56/105) followed by retinitis pigmentosa (RP, 40%, 42/105), b …
To report the spectrum of Leber congenital amaurosis (LCA) associated genes in a large German cohort and to delineate t …
Metabolism in the Zebrafish Retina.
Jaroszynska N, Harding P, Moosajee M. Jaroszynska N, et al. J Dev Biol. 2021 Mar 15;9(1):10. doi: 10.3390/jdb9010010. J Dev Biol. 2021. PMID: 33804189 Free PMC article. Review.
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
Albakri A, Pisuchpen P, Capasso JE, Schneider A, Kopinsky S, Glaser T, Chiang JP, Yomai AA, McNear D, Levin AV. Albakri A, et al. Am J Med Genet A. 2023 Apr;191(4):1007-1012. doi: 10.1002/ajmg.a.63108. Epub 2023 Jan 3. Am J Med Genet A. 2023. PMID: 36595661 Free PMC article.
The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). ...All five were from Tonoas Island, within the Chuuk Lagoon, with ages ranging from 6 months to 16 years. D …
The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated Sta …
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Motta FL, Martin RP, Porto FBO, Wohler ES, Resende RG, Gomes CP, Pesquero JB, Sallum JMF. Motta FL, et al. Genes (Basel). 2019 Dec 24;11(1):24. doi: 10.3390/genes11010024. Genes (Basel). 2019. PMID: 31878136 Free PMC article.
Initially, these RPE65 variants met only three pathogenic criteria: (i) absence or low frequency in the population, (ii) several missense pathogenic RPE65 variants, and (iii) 15 out of 16 lines of computational evidence supporting them as damaging, which together allowed t …
Initially, these RPE65 variants met only three pathogenic criteria: (i) absence or low frequency in the population, (ii) several missense pa …
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl D, Shin S, Lee ST, Choi JR, Lee J, Byeon SH, Han SH, Lim HT, Han J. Surl D, et al. Mol Vis. 2020 Feb 24;26:26-35. eCollection 2020. Mol Vis. 2020. PMID: 32165824 Free PMC article.
PURPOSE: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype-phenotype correlation in a Korean cohort. ...We detected two pathogenic or likely pathogenic variants …
PURPOSE: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the …
132 results