TY - JOUR UR - http://doi.org/10.1038/s41591-018-0295-0 Y1 - 2019/02// ID - discovery10064672 N1 - This version is the author accepted manuscript. For information on re-use, please refer to the publisher?s terms and conditions. TI - Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect VL - 25 JF - Nature Medicine KW - Antisense oligonucleotide therapy KW - Clinical trials KW - Neurodegeneration KW - Oligo delivery N2 - 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. A1 - Cideciyan, AV A1 - Jacobson, SG A1 - Drack, AV A1 - Ho, AC A1 - Charng, J A1 - Garafalo, AV A1 - Roman, AJ A1 - Sumaroka, A A1 - Han, IC A1 - Hochstedler, MD A1 - Pfeifer, WL A1 - Sohn, EH A1 - Taiel, M A1 - Schwartz, MR A1 - Biasutto, P A1 - Wit, WD A1 - Cheetham, ME A1 - Adamson, P A1 - Rodman, DM A1 - Platenburg, G A1 - Tome, MD A1 - Balikova, I A1 - Nerinckx, F A1 - Zaeytijd, JD A1 - Van Cauwenbergh, C A1 - Leroy, BP A1 - Russell, SR EP - 228 SP - 225 AV - public ER -