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Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC. Huang CH, et al. Genes (Basel). 2021 Aug 19;12(8):1261. doi: 10.3390/genes12081261. Genes (Basel). 2021. PMID: 34440435 Free PMC article. Review.
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. ...
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with …
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.
These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late adulthood. The advances in genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing …
These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late …
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
Kumaran N, Moore AT, Weleber RG, Michaelides M. Kumaran N, et al. Br J Ophthalmol. 2017 Sep;101(9):1147-1154. doi: 10.1136/bjophthalmol-2016-309975. Epub 2017 Jul 8. Br J Ophthalmol. 2017. PMID: 28689169 Free PMC article. Review.
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and marked …
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypical …
Gene therapy for heart failure and cardiomyopathies.
Argirò A, Ding J, Adler E. Argirò A, et al. Rev Esp Cardiol (Engl Ed). 2023 Dec;76(12):1042-1054. doi: 10.1016/j.rec.2023.06.009. Epub 2023 Jul 26. Rev Esp Cardiol (Engl Ed). 2023. PMID: 37506969 Free article. Review. English, Spanish.
Gene therapy has already received approval for treating genetic disorders like Leber's congenital amaurosis and spinal muscular atrophy. Currently, research is being conducted to explore its potential use in cardiology. ...
Gene therapy has already received approval for treating genetic disorders like Leber's congenital amaurosis and spinal …
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 …
Retinogenesis of the Human Fetal Retina: An Apical Polarity Perspective.
Quinn PMJ, Wijnholds J. Quinn PMJ, et al. Genes (Basel). 2019 Nov 29;10(12):987. doi: 10.3390/genes10120987. Genes (Basel). 2019. PMID: 31795518 Free PMC article. Review.
We discuss the roles of apical-basal cell polarity in retinogenesis with a focus on Leber congenital amaurosis which leads to blindness shortly after birth. ...
We discuss the roles of apical-basal cell polarity in retinogenesis with a focus on Leber congenital amaurosis which le …
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Sarkar H, Moosajee M. Sarkar H, et al. Exp Eye Res. 2019 Nov;188:107793. doi: 10.1016/j.exer.2019.107793. Epub 2019 Sep 7. Exp Eye Res. 2019. PMID: 31505163 Review.
Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photoreceptors. It functions as part of the visual cycle, which is a series of enzymatic reactions required for the regeneration of the visual pigment, …
Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photorecept …
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT, Thompson DA. Fahim AT, et al. Adv Exp Med Biol. 2019;1185:209-213. doi: 10.1007/978-3-030-27378-1_34. Adv Exp Med Biol. 2019. PMID: 31884613 Free PMC article. Review.
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. ...
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. ...
The rapidly evolving state of gene therapy.
Gruntman AM, Flotte TR. Gruntman AM, et al. FASEB J. 2018 Apr;32(4):1733-1740. doi: 10.1096/fj.201700982R. FASEB J. 2018. PMID: 31282760 Review.
Food and Drug Administration has recently approved Luxturna (Spark Therapeutics Inc, Philadelphia, PA, USA), a recombinant adeno-associated virus (rAAV) 2 gene therapy for one type of Leber congenital amaurosis 2 ( 1 , 2 ). The European Medicines Agency (EMA) …
Food and Drug Administration has recently approved Luxturna (Spark Therapeutics Inc, Philadelphia, PA, USA), a recombinant adeno-associated …
Progress and challenges in viral vector manufacturing.
van der Loo JC, Wright JF. van der Loo JC, et al. Hum Mol Genet. 2016 Apr 15;25(R1):R42-52. doi: 10.1093/hmg/ddv451. Epub 2015 Oct 30. Hum Mol Genet. 2016. PMID: 26519140 Free PMC article. Review.
This enthusiasm is driven by positive data in clinical trials including gene replacement for Hemophilia B, X-linked Severe Combined Immunodeficiency, Leber's Congenital Amaurosis Type 2 and in cancer immunotherapy trials for hematological malignancies using c …
This enthusiasm is driven by positive data in clinical trials including gene replacement for Hemophilia B, X-linked Severe Combined Immunode …
27 results