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Page 1
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum.
Saberi M, Golchehre Z, Karamzade A, Entezam M, Eshaghkhani Y, Alavinejad E, Khojasteh Jafari H, Keramatipour M. Saberi M, et al. Iran Biomed J. 2019 Sep;23(5):362-8. doi: 10.29252/.23.5.362. Epub 2019 May 19. Iran Biomed J. 2019. PMID: 31103025 Free PMC article. Review.
BACKGROUND: LLeber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins …
BACKGROUND: LLeber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. …
Leber congenital amaurosis.
Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J. Perrault I, et al. Mol Genet Metab. 1999 Oct;68(2):200-8. doi: 10.1006/mgme.1999.2906. Mol Genet Metab. 1999. PMID: 10527670 Review.
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. ...Based on these striking differences of physiopathologic processes, we reexamined all clinical physiopa …
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsibl …
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. den Hollander AI, et al. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Prog Retin Eye Res. 2008. PMID: 18632300 Review.
Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. ...Several of these genes have also been implicated in other non-syndromic or syndromic retinal diseases, such as ret …
Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or severe visual impairment bef …
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. To date, 15 causative genes have been identified that account for the heterogeneous pres …
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies, characterized by vision loss …
The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.
Wang X, Yu C, Tzekov RT, Zhu Y, Li W. Wang X, et al. Orphanet J Rare Dis. 2020 Feb 14;15(1):49. doi: 10.1186/s13023-020-1304-1. Orphanet J Rare Dis. 2020. PMID: 32059734 Free PMC article. Review.
RESULTS: The BCVA significantly improved in treated eyes at 1 yr post treatment by - 0.10 logMAR (95% CI, - 0.17 - -0.04; p = 0.002), while there was no significant difference at 2-3 years post treatment (WMD: 0.01; 95% CI, - 0.00 - 0.02; p = 0.15). FST sensitivity to blue …
RESULTS: The BCVA significantly improved in treated eyes at 1 yr post treatment by - 0.10 logMAR (95% CI, - 0.17 - -0.04; p = 0.002), while …
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W, Zhou T, Jiang H, Zhang M, Hu M, Zhang L. Duan W, et al. BMC Med Genomics. 2022 Sep 17;15(1):197. doi: 10.1186/s12920-022-01356-z. BMC Med Genomics. 2022. PMID: 36115989 Free PMC article. Review.
BACKGROUND: Leber's congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision, nystagmus, and sluggish or absent pupillary responses. ...
BACKGROUND: Leber's congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by earl …
Recent advances in ocular gene therapy.
Chung DC, Lee V, Maguire AM. Chung DC, et al. Curr Opin Ophthalmol. 2009 Sep;20(5):377-81. doi: 10.1097/ICU.0b013e32832f802a. Curr Opin Ophthalmol. 2009. PMID: 19667988 Review.
PURPOSE OF REVIEW: Ocular gene therapy has made significant advances due to improvements in viral vector delivery methods. Recent clinical trials for the treatment of Leber's congenital amaurosis have provided evidence for successful in-vivo gene therapy in h …
PURPOSE OF REVIEW: Ocular gene therapy has made significant advances due to improvements in viral vector delivery methods. Recent clinical t …
Intracellular transport of recombinant adeno-associated virus vectors.
Nonnenmacher M, Weber T. Nonnenmacher M, et al. Gene Ther. 2012 Jun;19(6):649-58. doi: 10.1038/gt.2012.6. Epub 2012 Feb 23. Gene Ther. 2012. PMID: 22357511 Free PMC article. Review.
Recombinant adeno-associated viral vectors (rAAVs) have been widely used for gene delivery in animal models, and are currently evaluated for human gene therapy after successful clinical trials in the treatment of inherited, degenerative or acquired diseases, such as Leber …
Recombinant adeno-associated viral vectors (rAAVs) have been widely used for gene delivery in animal models, and are currently evaluated for …
Dog models for blinding inherited retinal dystrophies.
Petersen-Jones SM, Komáromy AM. Petersen-Jones SM, et al. Hum Gene Ther Clin Dev. 2015 Mar;26(1):15-26. doi: 10.1089/humc.2014.155. Epub 2015 Feb 11. Hum Gene Ther Clin Dev. 2015. PMID: 25671556 Free PMC article. Review.
Towards understanding CRUMBS function in retinal dystrophies.
Richard M, Roepman R, Aartsen WM, van Rossum AG, den Hollander AI, Knust E, Wijnholds J, Cremers FP. Richard M, et al. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R235-43. doi: 10.1093/hmg/ddl195. Hum Mol Genet. 2006. PMID: 16987889 Review.
Mutations in the Crumbs homologue 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (arRP) and autosomal Leber congenital amaurosis (arLCA). The crumbs (crb) gene was originally identified in Drosophila and encodes a large transmembrane protein req …
Mutations in the Crumbs homologue 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (arRP) and autosomal Leber congenit …
15 results