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Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy

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By Unikora Yang, Mejora Vision MD, Hôpital Maisonneuve Rosemont, T. Michael Redmond
| JAMA (The Journal of the American Medical Association) Verified
[Skip to Content Landing] Original Investigation October 3, 2019 JAMA Ophthalmol. 2019;137(12):1381-1388. doi:10.1001/jamaophthalmol.2019.3914 Full Text Key Points Question Can the pathogenicity of RPE65 variants of uncertain significance be identified before gene therapy? Findings In this case series of 4 pediatric patients with Leber congenital amaurosis, compound heterozygous or homozygous variants of uncertain significance were found in the RPE65 gene.
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