| Literature DB >> 30559420 |
Artur V Cideciyan1, Samuel G Jacobson2, Arlene V Drack3, Allen C Ho4, Jason Charng5, Alexandra V Garafalo5, Alejandro J Roman5, Alexander Sumaroka5, Ian C Han3, Maria D Hochstedler3, Wanda L Pfeifer3, Elliott H Sohn3, Magali Taiel6, Michael R Schwartz6, Patricia Biasutto6, Wilma de Wit6, Michael E Cheetham7, Peter Adamson6,7, David M Rodman6, Gerard Platenburg6, Maria D Tome6, Irina Balikova8, Fanny Nerinckx8, Julie De Zaeytijd8, Caroline Van Cauwenbergh8, Bart P Leroy8, Stephen R Russell3.
Abstract
Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protein 290 (CEP290) were treated (ClinicalTrials.gov no. NCT03140969 ) with intravitreal injections of an antisense oligonucleotide to restore correct splicing. There were no serious adverse events, and vision improved at 3 months. The visual acuity of one exceptional responder improved from light perception to 20/400.Entities:
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Year: 2018 PMID： 30559420 DOI： 10.1038/s41591-018-0295-0
Source DB: PubMed Journal: Nat Med ISSN： 1078-8956 Impact factor: 53.440