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Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.
Russell SR, Drack AV, Cideciyan AV, Jacobson SG, Leroy BP, Van Cauwenbergh C, Ho AC, Dumitrescu AV, Han IC, Martin M, Pfeifer WL, Sohn EH, Walshire J, Garafalo AV, Krishnan AK, Powers CA, Sumaroka A, Roman AJ, Vanhonsebrouck E, Jones E, Nerinckx F, De Zaeytijd J, Collin RWJ, Hoyng C, Adamson P, Cheetham ME, Schwartz MR, den Hollander W, Asmus F, Platenburg G, Rodman D, Girach A. Russell SR, et al. Nat Med. 2022 May;28(5):1014-1021. doi: 10.1038/s41591-022-01755-w. Epub 2022 Apr 4. Nat Med. 2022. PMID: 35379979 Free PMC article. Clinical Trial.
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. ...Eight patients developed cataracts, of which six (75.0%) were categorized as serious (2/3 with 160 g/80 g; 4/5 with 320 g/160 …
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindne …
Leber's congenital amaurosis and the role of gene therapy in congenital retinal disorders.
Sharif W, Sharif Z. Sharif W, et al. Int J Ophthalmol. 2017 Mar 18;10(3):480-484. doi: 10.18240/ijo.2017.03.24. eCollection 2017. Int J Ophthalmol. 2017. PMID: 28393043 Free PMC article. Review.
Leber's congenital amaurosis (LCA) and recent gene therapy advancement for treating inherited retinopathies were extensive literature reviewed using MEDLINE, PubMed and EMBASE. ...
Leber's congenital amaurosis (LCA) and recent gene therapy advancement for treating inherited retinopathies were extens …
Hereditary Retinal Dystrophy.
Hohman TC. Hohman TC. Handb Exp Pharmacol. 2017;242:337-367. doi: 10.1007/164_2016_91. Handb Exp Pharmacol. 2017. PMID: 28035529 Review.
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrola …
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies in …
[Ciliopathies].
Gerth-Kahlert C, Koller S. Gerth-Kahlert C, et al. Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13. Klin Monbl Augenheilkd. 2018. PMID: 29534263 Review. German.
The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most severe type of retinal dystrophy: Leber's congenital amaurosis (LCA). The most common syndromic c …
The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia …
Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice.
Yang F, Ma H, Boye SL, Hauswirth WW, Ding XQ. Yang F, et al. Adv Exp Med Biol. 2018;1074:125-131. doi: 10.1007/978-3-319-75402-4_16. Adv Exp Med Biol. 2018. PMID: 29721936
Leber congenital amaurosis (LCA) is a devastating pediatric retinal degenerative disease, accounting for 20% of blindness in children attending schools for the blind. ...
Leber congenital amaurosis (LCA) is a devastating pediatric retinal degenerative disease, accounting for 20% of blindne …
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?
Tallapaka K, Aggarwal S, Bhattacherjee A, Das Bhowmik A, Dalal A. Tallapaka K, et al. Mol Syndromol. 2019 May;10(3):177-182. doi: 10.1159/000496280. Epub 2019 Jan 22. Mol Syndromol. 2019. PMID: 31191208 Free PMC article.
A patient referred for prenatal diagnostics, after first-trimester ultrasound due to a previous child with Leber congenital amaurosis, was suggestive of a Meckel syndrome-like phenotype. ...
A patient referred for prenatal diagnostics, after first-trimester ultrasound due to a previous child with Leber congenital …
Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.
Wei X, Zhu T, Wang L, Sui R. Wei X, et al. Doc Ophthalmol. 2023 Dec;147(3):225-232. doi: 10.1007/s10633-023-09953-8. Epub 2023 Sep 16. Doc Ophthalmol. 2023. PMID: 37715919
PURPOSE: Autoimmune polyglandular syndrome Type 1 (APS-1) is a rare autosomal recessive disorder caused by defects in the autoimmune regulator (AIRE) gene. ...Sanger sequencing validation and segregation analysis were further performed for confirmation. RESULTS: A 3 …
PURPOSE: Autoimmune polyglandular syndrome Type 1 (APS-1) is a rare autosomal recessive disorder caused by defects in the autoimmune …
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2.
Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, Banfi S, Surace EM, Sun J, Acerra C, Wright JF, Wellman J, High KA, Auricchio A, Bennett J, Simonelli F. Testa F, et al. Ophthalmology. 2013 Jun;120(6):1283-91. doi: 10.1016/j.ophtha.2012.11.048. Epub 2013 Mar 6. Ophthalmology. 2013. PMID: 23474247 Free PMC article.
OBJECTIVE: The aim of this study was to show the clinical data of long-term (3-year) follow-up of 5 patients affected by Leber congenital amaurosis type 2 (LCA2) treated with a single unilateral injection of adeno-associated virus AAV2-hRPE65v2. …
OBJECTIVE: The aim of this study was to show the clinical data of long-term (3-year) follow-up of 5 patients affected by Leber …
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 …
87 results