期刊
JOURNAL OF CLINICAL INVESTIGATION
卷 121, 期 6, 页码 2160-2168出版社
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI57377
关键词
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资金
- National Eye Institute [R21EY020662]
- Center for Cellular and Molecular Therapeutics (CCMT) at CHOP
- Foundation Fighting Blindness, CHOP-PENN Pediatric Center for Retinal Degenerations
- NIH/NCRR [UL1-RR-024134, 1R01EY019014-01A2]
- Research to Prevent Blindness
- Paul and Evanina Mackall Foundation Trust at Scheie Eye Institute
- anonymous donors
- Italian Telethon Foundation
- F.M. Kirby Foundation
- FWO [OZP 3G004306]
Leber congenital amaurosis (LCA) is a rare degenerative eye disease, linked to mutations in at least 14 genes. A recent gene therapy trial in patients with LCA2, who have mutations in RPE65, demonstrated that subretinal injection of an acieno-associated virus (AAV) carrying the normal cDNA of that gene (AAV2-hRPE65v2) could markedly improve vision. However, it remains unclear how the visual cortex responds to recovery of retinal function after prolonged sensory deprivation. Here, 3 of the gene therapy trial subjects, treated at ages 8, 9, and 35 years, underwent functional MRI within 2 years of unilateral injection of AAV2-hRPE6Sv2. All subjects showed increased cortical activation in response to high- and medium-contrast stimuli after exposure to the treated compared with the untreated eye. Furthermore, we observed a correlation between the visual field maps and the distribution of cortical activations for the treated eyes. These data suggest that despite severe and long-term visual impairment, treated LCA2 patients have intact and responsive visual pathways. In addition, these data suggest that gene therapy resulted in not only sustained and improved visual ability, but also enhanced contrast sensitivity.
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