Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.
case_series · Level IV
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- Record sourced from PubMed, PMID 30559420.
- Also identified by DOI 10.1038/s41591-018-0295-0.
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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.
Medical subject headings
- Cilia
- Leber Congenital Amaurosis
- Oligonucleotides, Antisense
- Photoreceptor Cells, Vertebrate
- Vision, Ocular