The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
Open accessAbstract
Mutations in RPE65 , a gene essential to normal operation of the visual (retinoid) cycle, cause the childhood blindness known as Leber congenital amaurosis (LCA). Retinal gene therapy restores vision to blind canine and murine models of LCA. Gene therapy in blind humans with LCA from RPE65 mutations may also have potential for success but only if the retinal photoreceptor layer is intact, as in the early-disease stage-treated animals. Here, we use high-resolution in vivo microscopy to quantify photoreceptor layer thickness in the human disease to define the relationship of retinal structure to vision and determine the potential for gene therapy success. The normally cone photoreceptor-rich central retina and rod-rich regions were studied. Despite severely reduced cone vision, many RPE65 -mutant retinas had near-normal central microstructure. Absent rod vision was associated with a detectable but thinned photoreceptor layer. We asked whether abnormally thinned RPE65 -mutant retina with photoreceptor loss would respond to treatment. Gene therapy in Rpe65 -/- mice at advanced-disease stages, a more faithful mimic of the humans we studied, showed success but only in animals with better-preserved photoreceptor structure. The results indicate that identifying and then targeting retinal locations with retained photoreceptors will be a prerequisite for successful gene therapy in humans with RPE65 mutations and in other retinal degenerative disorders now moving from proof-of-concept studies toward clinical trials.
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Cites
Gene therapy restores vision in a canine model of childhood blindness
Acland, G. M., Aguirre, G. D., Ray, J., Zhang, Q., Aleman, T. S., Cideciyan, A. V., Pearce-Kelling, S. E., Anand, V., Zeng, Y., Maguire, A. M., et al. (2001) · Nature Genetics · doi:10.1038/ng0501-92 · Cited by 1,202
Self-citationAge-related macular degeneration: etiology, pathogenesis, and therapeutic strategies
Ambati, J., Ambati, B. K., Yoo, S. H., Ianchulev, S., & Adamis, A. P. (2003) · Survey of Ophthalmology · doi:10.1016/s0039-6257(03)00030-4 · Cited by 959
Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
Gu, S.-M., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-194 · Cited by 663
Mutations in RPE65 cause Leber's congenital amaurosis
Marlhens, F., Bareil, C., Griffoin, J.-M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S.-Y., Harris, E., Redmond, T. M., Arnaud, B., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-139 · Cited by 606
Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy
Bennett, J., Tanabe, T., Sun, D., Zeng, Y., Kjeldbye, H., Gouras, P., & Maguire, A. M. (1996) · Nature Medicine · doi:10.1038/nm0696-649 · Cited by 316
Self-citationCorrection of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk
Vollrath, D., Feng, W., Duncan, J. L., Yasumura, D., D'Cruz, P. M., Chappelow, A., Matthes, M. T., Kay, M. A., & LaVail, M. M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.221364198 · Cited by 290
Van Hooser, J. P., Aleman, T. S., He, Y.-G., Cideciyan, A. V., Kuksa, V., Pittler, S. J., Stone, E. M., Jacobson, S. G., & Palczewski, K. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.150236297 · Cited by 252
Self-citationRecovery of Visual Functions in a Mouse Model of Leber Congenital Amaurosis
Van Hooser, J. P., Liang, Y., Maeda, T., Kuksa, V., Jang, G.-F., He, Y.-G., Rieke, F., Fong, H. K. W., Detwiler, P. B., & Palczewski, K. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m112384200 · Cited by 154
Self-citationZnoiko, S. L., Rohrer, B., Lu, K., Lohr, H. R., Crouch, R. K., & Ma, J.-X. (2005) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.04-0653 · Cited by 146
Gollapalli, D. R., & Rando, R. R. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0401936101 · Cited by 49
Cited by
Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69740-7 · Cited by 2,924
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145
Self-citationHauswirth, W. W., Aleman, T. S., Kaushal, S., Cideciyan, A. V., Schwartz, S. B., Wang, L., Conlon, T. J., Boye, S. L., Flotte, T. R., Byrne, B. J., et al. (2008) · Human Gene Therapy · doi:10.1089/hum.2008.107 · Cited by 954
Self-citationTherapeutic in vivo gene transfer for genetic disease using AAV: Progress and challenges
Mingozzi, F., & High, K. A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2988 · Cited by 893
Maguire, A. M., High, K. A., Auricchio, A., Wright, J. F., Pierce, E. A., Testa, F., Mingozzi, F., Bennicelli, J. L., Ying, G.-S., Rossi, S., et al. (2009) · The Lancet · doi:10.1016/s0140-6736(09)61836-5 · Cited by 865
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Metadata
- Authors
- Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S. B., Windsor, E. A. M., Traboulsi, E. I., Heon, E., Pittler, S. J., Milam, A. H., Maguire, A. M., Palczewski, K., Stone, E. M., & Bennett, J.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2005-04-18
- Volume
- 102
- Issue
- 17
- Pages
- 6177-6182
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1999109674
- Cited by
- 274
- References
- 10
- FWCI
- 5.88
- Type
- journal article
- Language
- en
- Open access
- green
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- Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S. B., Windsor, E. A. M., Traboulsi, E. I., Heon, E., Pittler, S. J., Milam, A. H., Maguire, A. M., Palczewski, K., Stone, E. M., & Bennett, J. (2005). Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0500646102
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Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
