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2025

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Year Number of Results
2001 1
2003 1
2007 1
2010 1
2011 1
2013 1
2014 1
2015 3
2016 1
2017 1
2018 1
2019 1
2020 2
2021 4
2025 0

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Page 1
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK. Chiu W, et al. Int J Mol Sci. 2021 Apr 26;22(9):4534. doi: 10.3390/ijms22094534. Int J Mol Sci. 2021. PMID: 33926102 Free PMC article. Review.
Among these clinical trials, voretigene neparvovec-rzyl (Luxturna), an adeno-associated virus vector-based gene therapy drug, was approved by the FDA for treating patients with confirmed biallelic RPE65 mutation-associated Leber Congenital Amaurosis (LCA) in …
Among these clinical trials, voretigene neparvovec-rzyl (Luxturna), an adeno-associated virus vector-based gene therapy drug, was approved b …
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/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
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Jo …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital
[Hereditary cerebro-oculo-renal syndromes].
Sessa G, Hjortshøj TD, Egfjord M. Sessa G, et al. Ugeskr Laeger. 2014 Feb 17;176(8A):V07130452. Ugeskr Laeger. 2014. PMID: 25350305 Free article. Review. Danish.
Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. ...
Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have …
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.
Leroy BP, Birch DG, Duncan JL, Lam BL, Koenekoop RK, Porto FBO, Russell SR, Girach A. Leroy BP, et al. Retina. 2021 May 1;41(5):898-907. doi: 10.1097/IAE.0000000000003133. Retina. 2021. PMID: 33595255 Free PMC article. Review.
PURPOSE: Leber congenital amaurosis due to CEP290 mutations (LCA10) is an inherited retinal disease that often results in severe visual impairment or blindness in early childhood. ...RNA editing using antisense oligonucleotides or Staphylococcus aureus CRISPR …
PURPOSE: Leber congenital amaurosis due to CEP290 mutations (LCA10) is an inherited retinal disease that often results …
Pharmacotherapy of retinal disease with visual cycle modulators.
Hussain RM, Gregori NZ, Ciulla TA, Lam BL. Hussain RM, et al. Expert Opin Pharmacother. 2018 Apr;19(5):471-481. doi: 10.1080/14656566.2018.1448060. Epub 2018 Mar 15. Expert Opin Pharmacother. 2018. PMID: 29542350 Free article. Review.
INTRODUCTION: Pharmacotherapy with visual cycle modulators (VCMs) is under investigation for retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Stargardt macular dystrophy (SMD) and nonexudative age-related macular degeneration (AMD), all blinding d …
INTRODUCTION: Pharmacotherapy with visual cycle modulators (VCMs) is under investigation for retinitis pigmentosa (RP), Leber cong
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
Rivolta C, Berson EL, Dryja TP. Rivolta C, et al. Hum Mutat. 2001 Dec;18(6):488-98. doi: 10.1002/humu.1226. Hum Mutat. 2001. PMID: 11748842 Review.
We summarize 18 mutations in the human CRX gene that have been associated with Leber congenital amaurosis (congenital retinal blindness), cone-rod degeneration, or retinitis pigmentosa. ...Four of the 18 mutations (approximately 20%) were de novo mutat …
We summarize 18 mutations in the human CRX gene that have been associated with Leber congenital amaurosis (congenita
Therapeutic Genome Editing and In Vivo Delivery.
Ramirez-Phillips AC, Liu D. Ramirez-Phillips AC, et al. AAPS J. 2021 Jun 2;23(4):80. doi: 10.1208/s12248-021-00613-w. AAPS J. 2021. PMID: 34080099 Review.
Compared to earlier nucleases such as zinc finger nuclease and transcription activator-like effector nuclease, the relatively low cost and ease of producing clustered regularly interspaced short palindromic repeats associated protein 9 (CRISPR/Cas9) systems have made thera …
Compared to earlier nucleases such as zinc finger nuclease and transcription activator-like effector nuclease, the relatively low cost and e …
20 results