Promising and delivering gene therapies for vision loss

Vision Research

Volumn 111, Issue , 2015, Pages 124-133

  Carvalho, Livia S ^a   Vandenberghe, Luk H ^a  

^a SCHEPENS EYE RESEARCH INSTITUTE   (United States)

Author keywords

AAV; Clinical trial; Gene therapy; LCA; Lentiviral vector; Retina

Indexed keywords

AGENTS ACTING ON THE EYE; ANGIOSTATIN; ENDOSTATIN; GS 010; LENTIVIRUS VECTOR; MYOSIN VIIA; PARVOVIRUS VECTOR; POLYMER; RAB PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; RETINAL PIGMENT EPITHELIUM SPECIFIC 65 KDA PROTEIN; STARGEN; UNCLASSIFIED DRUG; USHSTAT; VASCULOTROPIN RECEPTOR 1; VISUAL PIGMENT;

AGE RELATED MACULAR DEGENERATION; ARTICLE; CHOROIDEREMIA; CLINICAL TRIAL (TOPIC); DNA VECTOR; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; EYE INFLAMMATION; FLT1 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; HUMAN; LEBER CONGENITAL AMAUROSIS; LEBER HEREDITARY OPTIC NEUROPATHY; MYO7A GENE; ND4 GENE; NONHUMAN; NONVIRAL GENE DELIVERY SYSTEM; OPTOGENETICS; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; PROMOTER REGION; REP1 GENE; RETINA GANGLION CELL; RETINITIS PIGMENTOSA; RPE65 GENE; STARGARDT DISEASE; SUBRETINAL DRUG ADMINISTRATION; VESICULAR STOMATITIS; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; VIRAL TROPISM; VISUAL ACUITY; VISUAL IMPAIRMENT; BLINDNESS; DEPENDOPARVOVIRUS; GENE THERAPY; GENE TRANSFER; GENETICS; PROCEDURES; RETINAL DEGENERATION;

BLINDNESS; CLINICAL TRIALS AS TOPIC; DEPENDOVIRUS; GENE TRANSFER TECHNIQUES; GENETIC THERAPY; HUMANS; RETINAL DEGENERATION;

EID: 84941316428     PISSN: 00426989     EISSN: 18785646     Source Type: Journal    
DOI: 10.1016/j.visres.2014.07.013     Document Type: Article

References (111)

1. Acland G.M., Aguirre G.D., Ray J., Zhang Q., Aleman T.S., Cideciyan A.V., et al. Gene therapy restores vision in a canine model of childhood blindness. Nature Genetics 2001, 28:92-95. 10.1038/88327.
2. Acland G.M., Aguirre G.D., Bennett J., Aleman T.S., Cideciyan A.V., Bennicelli J., et al. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Molecular Therapy: The Journal of the American Society of Gene Therapy 2005, 12:1072-1082. 10.1016/j.ymthe.2005.08.008.
3. Aleman T.S., Cideciyan A.V., Sumaroka A., Windsor E.A., Herrera W., White D.A., et al. Retinal laminar architecture in human retinitis pigmentosa caused by rhodopsin gene mutations. Investigative Ophthalmology & Visual Science 2008, 49:1580-1590. 10.1167/iovs.07-1110.
4. Ali R.R., Reichel M.B., Thrasher A.J., Levinsky R.J., Kinnon C., Kanuga N., et al. Gene transfer into the mouse retina mediated by an adeno-associated viral vector. Human Molecular Genetics 1996, 5:591-594.
5. Allocca M., Doria M., Petrillo M., Colella P., Garcia-Hoyos M., Gibbs D., et al. Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. Journal of Clinical Investigation 2008, 118:1955-1964. 10.1172/JCI34316.
6. Annear M.J., Mowat F.M., Bartoe J.T., Querubin J., Azam S.A., Basche M., et al. Successful gene therapy in older Rpe65-deficient dogs following subretinal injection of an adeno-associated vector expressing RPE65. Human Gene Therapy 2013, 24:883-893. 10.1089/hum.2013.146.
7. Bainbridge J.W., Stephens C., Parsley K., Demaison C., Halfyard A., Thrasher A.J., et al. In vivo gene transfer to the mouse eye using an HIV-based lentiviral vector; efficient long-term transduction of corneal endothelium and retinal pigment epithelium. Gene Therapy 2001, 8:1665-1668. 10.1038/sj.gt.3301574.
8. Bainbridge J.W., Smith A.J., Barker S.S., Robbie S., Henderson R., Balaggan K., et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. New England Journal of Medicine 2008, 358:2231-2239. 10.1056/NEJMoa0802268.
9. Bainbridge J.W., Tan M.H., Ali R.R. Gene therapy progress and prospects: The eye. Gene Therapy 2006, 13:1191-1197. 10.1038/sj.gt.3302812.
10. Bennett J., Tanabe T., Sun D., Zeng Y., Kjeldbye H., Gouras P., et al. Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nature Medicine 1996, 2:649-654.
11. Bennett J., Ashtari M., Wellman J., Marshall K.A., Cyckowski L.L., Chung D.C., et al. AAV2 gene therapy readministration in three adults with congenital blindness. Science Translational Medicine 2012, 4:120ra115. 10.1126/scitranslmed.3002865.
12. Bennett J., Wilson J., Sun D., Forbes B., Maguire A. Adenovirus vector-mediated in vivo gene transfer into adult murine retina. Investigative Ophthalmology & Visual Science 1994, 35:2535-2542.
13. Bi A., Cui J., Ma Y.P., Olshevskaya E., Pu M., Dizhoor A.M., et al. Ectopic expression of a microbial-type rhodopsin restores visual responses in mice with photoreceptor degeneration. Neuron 2006, 50:23-33. 10.1016/j.neuron.2006.02.026.
14. Binley K., Widdowson P.S., Kelleher M., de Belin J., Loader J., Ferrige G., et al. Safety and biodistribution of an equine infectious anemia virus-based gene therapy, RetinoStat((R)), for age-related macular degeneration. Human Gene Therapy 2012, 23:980-991. 10.1089/hum.2012.008.
15. Binley K., Widdowson P., Loader J., Kelleher M., Iqball S., Ferrige G., et al. Transduction of photoreceptors with equine infectious anemia virus lentiviral vectors: Safety and biodistribution of StarGen for Stargardt disease. Investigative Ophthalmology & Visual Science 2013, 54:4061-4071. 10.1167/iovs.13-11871.
16. Birch D.G., Weleber R.G., Duncan J.L., Jaffe G.J., Tao W. Randomized trial of ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for retinitis pigmentosa. American Journal of Ophthalmology 2013, 156:283-292. e281. 10.1016/j.ajo.2013.03.021.
17. Bischof D., Cornetta K. Flexibility in cell targeting by pseudotyping lentiviral vectors. Methods in Molecular Biology 2010, 614:53-68. 10.1007/978-1-60761-533-0_3.
18. Blomer U., Naldini L., Verma I.M., Trono D., Gage F.H. Applications of gene therapy to the CNS. Human Molecular Genetics 1996, 5(Spec No.):1397-1404.
19. Bok D., Yasumura D., Matthes M.T., Ruiz A., Duncan J.L., Chappelow A.V., et al. Effects of adeno-associated virus-vectored ciliary neurotrophic factor on retinal structure and function in mice with a P216L rds/peripherin mutation. Experimental Eye Research 2002, 74:719-735.
20. Boye S.E., Alexander J.J., Boye S.L., Witherspoon C.D., Sandefer K.J., Conlon T.J., et al. The human rhodopsin kinase promoter in an AAV5 vector confers rod- and cone-specific expression in the primate retina. Human Gene Therapy 2012, 23:1101-1115. 10.1089/hum.2012.125.
21. Buch P.K., MacLaren R.E., Duran Y., Balaggan K.S., MacNeil A., Schlichtenbrede F.C., et al. In contrast to AAV-mediated Cntf expression, AAV-mediated Gdnf expression enhances gene replacement therapy in rodent models of retinal degeneration. Molecular Therapy 2006, 14:700-709. 10.1016/j.ymthe.2006.05.019.
22. Buch P.K., Bainbridge J.W., Ali R.R. AAV-mediated gene therapy for retinal disorders: From mouse to man. Gene Therapy 2008, 15:849-857. 10.1038/gt.2008.66.
23. Busskamp V., Picaud S., Sahel J.A., Roska B. Optogenetic therapy for retinitis pigmentosa. Gene Therapy 2012, 19:169-175. 10.1038/gt.2011.155.
24. Byrne L.C., Ozturk B.E., Lee T., Fortuny C., Visel M., Dalkara D., et al. Retinoschisin gene therapy in photoreceptors, Muller glia or all retinal cells in the Rs1h-/- mouse. Gene Therapy 2014, 10.1038/gt.2014.31.
25. Carvalho L.S., Xu J., Pearson R.A., Smith A.J., Bainbridge J.W., Morris L.M., et al. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Human Molecular Genetics 2011, 20:3161-3175. 10.1093/hmg/ddr218.
26. Cepko C. Neuroscience. Seeing the light of day. Science 2010, 329:403-404. 10.1126/science.1194086.
27. Cepko C.L., Vandenberghe L.H. Retinal gene therapy coming of age. Human Gene Therapy 2013, 24:242-244. 10.1089/hum.2013.050.
28. Cheng Y., Huang L., Li X., Qi H., Zhou P., Yu W., et al. Prevalence of neutralizing factors against adeno-associated virus types 2 in age-related macular degeneration and polypoidal choroidal vasculopathy. Current Gene Therapy 2013, 13:182-188.
29. Cideciyan A.V., Aleman T.S., Boye S.L., Schwartz S.B., Kaushal S., Roman A.J., et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proceedings of the National academy of Sciences of the United States of America 2008, 105:15112-15117. 10.1073/pnas.0807027105.
30. Cideciyan A.V., Hauswirth W.W., Aleman T.S., Kaushal S., Schwartz S.B., Boye S.L., et al. Human RPE65 gene therapy for Leber congenital amaurosis: Persistence of early visual improvements and safety at 1 year. Human Gene Therapy 2009, 20:999-1004. 10.1089/hum.2009.086.
31. Cideciyan A.V., Jacobson S.G., Beltran W.A., Sumaroka A., Swider M., Iwabe S., et al. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proceedings of the National academy of Sciences of the United States of America 2013, 110:E517-525. 10.1073/pnas.1218933110.
32. Colella P., Trapani I., Cesi G., Sommella A., Manfredi A., Puppo A., et al. Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors. Gene Therapy 2014, 21:450-456. 10.1038/gt.2014.8.
33. Cwerman-Thibault H., Augustin S., Ellouze S., Sahel J.A., Corral-Debrinski M. Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial. Comptes Rendus Biologies 2014, 337:193-206. 10.1016/j.crvi.2013.11.011.
34. Dai X., Han J., Qi Y., Zhang H., Xiang L., Lv J., et al. AAV-mediated lysophosphatidylcholine acyltransferase 1 (Lpcat1) gene replacement therapy rescues retinal degeneration in rd11 mice. Investigative Ophthalmology & Visual Science 2014, 55:1724-1734. 10.1167/iovs.13-13654.
35. Dalkara D., Byrne L.C., Klimczak R.R., Visel M., Yin L., Merigan W.H., et al. In vivo-directed evolution of a new adeno-associated virus for therapeutic outer retinal gene delivery from the vitreous. Science Translational Medicine 2013, 5:189ra176. 10.1126/scitranslmed.3005708.
36. Dalkara D., Sahel J.A. Gene therapy for inherited retinal degenerations. Comptes Rendus Biologies 2014, 337:185-192. 10.1016/j.crvi.2014.01.002.
37. del Pozo-Rodriguez A., Delgado D., Gascon A.R., Solinis M.A. Lipid nanoparticles as drug/gene delivery systems to the retina. Journal of Ocular Pharmacology and Therapeutics 2013, 29:173-188. 10.1089/jop.2012.0128.
38. Diebold Y., Calonge M. Applications of nanoparticles in ophthalmology. Progress in Retinal and Eye Research 2010, 29:596-609. 10.1016/j.preteyeres.2010.08.002.
39. Dinculescu A., Glushakova L., Min S.H., Hauswirth W.W. Adeno-associated virus-vectored gene therapy for retinal disease. Human Gene Therapy 2005, 16:649-663. 10.1089/hum.2005.16.649.
40. Dong B., Nakai H., Xiao W. Characterization of genome integrity for oversized recombinant AAV vector. Molecular Therapy 2010, 18:87-92. 10.1038/mt.2009.258.
41. Duan D., Yue Y., Engelhardt J.F. Expanding AAV packaging capacity with trans-splicing or overlapping vectors: A quantitative comparison. Molecular Therapy 2001, 4:383-391. 10.1006/mthe.2001.0456.
42. Dunaief J.L., Kwun R.C., Bhardwaj N., Lopez R., Gouras P., Goff S.P. Retroviral gene transfer into retinal pigment epithelial cells followed by transplantation into rat retina. Human Gene Therapy 1995, 6:1225-1229. 10.1089/hum.1995.6.9-1225.
43. Dyka F.M., Boye S.L., Chiodo V.A., Hauswirth W.W., Boye S.E. Dual adeno-associated virus vectors result in efficient in vitro and in vivo expression of an oversized gene, MYO7A. Human Gene Therapy Methods 2014, 25:166-177. 10.1089/hgtb.2013.212.
44. Ebrey T., Koutalos Y. Vertebrate photoreceptors. Progress in Retinal and Eye Research 2001, 20:49-94.
45. Ellouze S., Augustin S., Bouaita A., Bonnet C., Simonutti M., Forster V., et al. Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. American Journal of Human Genetics 2008, 83:373-387. 10.1016/j.ajhg.2008.08.013.
46. Ghosh A., Yue Y., Lai Y., Duan D. A hybrid vector system expands adeno-associated viral vector packaging capacity in a transgene-independent manner. Molecular Therapy 2008, 16:124-130. 10.1038/sj.mt.6300322.
47. Grose W.E., Clark K.R., Griffin D., Malik V., Shontz K.M., Montgomery C.L., et al. Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. PLoS ONE 2012, 7:e39233. 10.1371/journal.pone.0039233.
48. Gruter O., Kostic C., Crippa S.V., Perez M.T., Zografos L., Schorderet D.F., et al. Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier. Gene Therapy 2005, 12:942-947. 10.1038/sj.gt.3302485.
49. Han Z., Conley S.M., Makkia R., Guo J., Cooper M.J., Naash M.I. Comparative analysis of DNA nanoparticles and AAVs for ocular gene delivery. PLoS ONE 2012, 7:e52189. 10.1371/journal.pone.0052189.
50. Hauswirth W.W., Aleman T.S., Kaushal S., Cideciyan A.V., Schwartz S.B., Wang L., et al. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: Short-term results of a phase I trial. Human Gene Therapy 2008, 19:979-990. 10.1089/hum.2008.107.
51. Hellstrom M., Ruitenberg M.J., Pollett M.A., Ehlert E.M., Twisk J., Verhaagen J., et al. Cellular tropism and transduction properties of seven adeno-associated viral vector serotypes in adult retina after intravitreal injection. Gene Therapy 2009, 16:521-532. 10.1038/gt.2008.178.
52. Holz F.G., Schmitz-Valckenberg S., Fleckenstein M. Recent developments in the treatment of age-related macular degeneration. Journal of Clinical Investigation 2014, 124:1430-1438. 10.1172/JCI71029.
53. Jacobson S.G., Cideciyan A.V., Ratnakaram R., Heon E., Schwartz S.B., Roman A.J., et al. Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: Safety and efficacy in 15 children and adults followed up to 3 years. Archives of Ophthalmology 2012, 130:9-24. 10.1001/archophthalmol.2011.298.
54. Jomary C., Vincent K.A., Grist J., Neal M.J., Jones S.E. Rescue of photoreceptor function by AAV-mediated gene transfer in a mouse model of inherited retinal degeneration. Gene Therapy 1997, 4:683-690. 10.1038/sj.gt.3300440.
55. Kapranov P., Chen L., Dederich D., Dong B., He J., Steinmann K.E., et al. Native molecular state of adeno-associated viral vectors revealed by single-molecule sequencing. Human Gene Therapy 2012, 23:46-55. 10.1089/hum.2011.160.
56. Kay C.N., Ryals R.C., Aslanidi G.V., Min S.H., Ruan Q., Sun J., et al. Targeting photoreceptors via intravitreal delivery using novel, capsid-mutated AAV vectors. PLoS ONE 2013, 8:e62097. 10.1371/journal.pone.0062097.
57. Kendall R.L., Thomas K.A. Inhibition of vascular endothelial cell growth factor activity by an endogenously encoded soluble receptor. Proceedings of the National academy of Sciences of the United States of America 1993, 90:10705-10709.
58. Kido M., Rich K.A., Yang G., Barron E., Kohn D.B., al-Ubaidi M.R., et al. Use of a retroviral vector with an internal opsin promoter to direct gene expression to retinal photoreceptor cells. Current Eye Research 1996, 15:833-844.
59. Klimczak R.R., Koerber J.T., Dalkara D., Flannery J.G., Schaffer D.V. A novel adeno-associated viral variant for efficient and selective intravitreal transduction of rat Muller cells. PLoS ONE 2009, 4:e7467. 10.1371/journal.pone.0007467.
60. Koirala A., Conley S.M., Makkia R., Liu Z., Cooper M.J., Sparrow J.R., et al. Persistence of non-viral vector mediated RPE65 expression: Case for viability as a gene transfer therapy for RPE-based diseases. Journal of Controlled Release 2013, 172:745-752. 10.1016/j.jconrel.2013.08.299.
61. Koirala A., Conley S.M., Naash M.I. A review of therapeutic prospects of non-viral gene therapy in the retinal pigment epithelium. Biomaterials 2013, 34:7158-7167. 10.1016/j.biomaterials.2013.06.002.
62. Komaromy A.M., Rowlan J.S., Corr A.T., Reinstein S.L., Boye S.L., Cooper A.E., et al. Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia. Molecular Therapy 2013, 21:1131-1141. 10.1038/mt.2013.50.
63. Kompella U.B., Amrite A.C., Pacha Ravi R., Durazo S.A. Nanomedicines for back of the eye drug delivery, gene delivery, and imaging. Progress in Retinal and Eye Research 2013, 36:172-198. 10.1016/j.preteyeres.2013.04.001.
64. Koo T., Popplewell L., Athanasopoulos T., Dickson G. Triple trans-splicing adeno-associated virus vectors capable of transferring the coding sequence for full-length dystrophin protein into dystrophic mice. Human Gene Therapy 2014, 25:98-108. 10.1089/hum.2013.164.
65. Kostic C., Chiodini F., Salmon P., Wiznerowicz M., Deglon N., Hornfeld D., et al. Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina. Gene Therapy 2003, 10:818-821. 10.1038/sj.gt.3301948.
66. Lai Y., Yue Y., Duan D. Evidence for the failure of adeno-associated virus serotype 5 to package a viral genome > or = 8.2 kb. Molecular Therapy 2010, 18:75-79. 10.1038/mt.2009.256.
67. Lau D., McGee L.H., Zhou S., Rendahl K.G., Manning W.C., Escobedo J.A., et al. Retinal degeneration is slowed in transgenic rats by AAV-mediated delivery of FGF-2. Investigative Ophthalmology & Visual Science 2000, 41:3622-3633.
68. Le Meur G., Stieger K., Smith A.J., Weber M., Deschamps J.Y., Nivard D., et al. Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Gene Therapy 2007, 14:292-303. 10.1038/sj.gt.3302861.
69. Li T., Adamian M., Roof D.J., Berson E.L., Dryja T.P., Roessler B.J., et al. In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector. Investigative Ophthalmology & Visual Science 1994, 35:2543-2549.
70. Liang F.Q., Aleman T.S., Dejneka N.S., Dudus L., Fisher K.J., Maguire A.M., et al. Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. Molecular Therapy 2001, 4:461-472. 10.1006/mthe.2001.0473.
71. Lipinski D.M., Barnard A.R., Charbel Issa P., Singh M.S., De Silva S.R., Trabalza A., et al. Vesicular stomatitis virus glycoprotein- and Venezuelan equine encephalitis virus-derived glycoprotein-pseudotyped lentivirus vectors differentially transduce corneal endothelium, trabecular meshwork, and human photoreceptors. Human Gene Therapy 2014, 25:50-62. 10.1089/hum.2013.009.
72. Loeb J.E., Cordier W.S., Harris M.E., Weitzman M.D., Hope T.J. Enhanced expression of transgenes from adeno-associated virus vectors with the woodchuck hepatitis virus posttranscriptional regulatory element: Implications for gene therapy. Human Gene Therapy 1999, 10:2295-2305. 10.1089/10430349950016942.
73. Lopes V.S., Boye S.E., Louie C.M., Boye S., Dyka F., Chiodo V., et al. Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. Gene Therapy 2013, 20:824-833. 10.1038/gt.2013.3.
74. Lostal W., Bartoli M., Bourg N., Roudaut C., Bentaib A., Miyake K., et al. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Human Molecular Genetics 2010, 19:1897-1907. 10.1093/hmg/ddq065.
75. Maclachlan T.K., Lukason M., Collins M., Munger R., Isenberger E., Rogers C., et al. Preclinical safety evaluation of AAV2-sFLT01 - A gene therapy for age-related macular degeneration. Molecular Therapy 2011, 19:326-334. 10.1038/mt.2010.258.
76. MacLaren R.E. An analysis of retinal gene therapy clinical trials. Current Opinion in Molecular Therapeutics 2009, 11:540-546.
77. MacLaren R.E., Groppe M., Barnard A.R., Cottriall C.L., Tolmachova T., Seymour L., et al. Retinal gene therapy in patients with choroideremia: Initial findings from a phase 1/2 clinical trial. Lancet 2014, 383:1129-1137. 10.1016/S0140-6736(13)62117-0.
78. Maguire A.M., Simonelli F., Pierce E.A., Pugh E.N., Mingozzi F., Bennicelli J., et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. The New England Journal of Medicine 2008, 358:2240-2248. 10.1056/NEJMoa0802315.
79. Maguire A.M., High K.A., Auricchio A., Wright J.F., Pierce E.A., Testa F., et al. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: A phase 1 dose-escalation trial. Lancet 2009, 374:1597-1605. 10.1016/S0140-6736(09)61836-5.
80. Mashhour B., Couton D., Perricaudet M., Briand P. In vivo adenovirus-mediated gene transfer into ocular tissues. Gene Therapy 1994, 1:122-126.
81. McClements M.E., MacLaren R.E. Gene therapy for retinal disease. Translational Research: The Journal of Laboratory and Clinical Medicine 2013, 161:241-254. 10.1016/j.trsl.2012.12.007.
82. McGee Sanftner L.H., Abel H., Hauswirth W.W., Flannery J.G. Glial cell line derived neurotrophic factor delays photoreceptor degeneration in a transgenic rat model of retinitis pigmentosa. Molecular Therapy 2001, 4:622-629. 10.1006/mthe.2001.0498.
83. Mihelec M., Pearson R.A., Robbie S.J., Buch P.K., Azam S.A., Bainbridge J.W., et al. Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of Leber congenital amaurosis caused by guanylate cyclase-1 deficiency. Human Gene Therapy 2011, 22:1179-1190. 10.1089/hum.2011.069.
84. Miyazaki J., Takaki S., Araki K., Tashiro F., Tominaga A., Takatsu K., et al. Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5. Gene 1989, 79:269-277.
85. Miyoshi H., Takahashi M., Gage F.H., Verma I.M. Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector. Proceedings of the National academy of Sciences of the United States of America 1997, 94:10319-10323.
86. Narfstrom K., Katz M.L., Bragadottir R., Seeliger M., Boulanger A., Redmond T.M., et al. Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Investigative Ophthalmology & Visual Science 2003, 44:1663-1672.
87. Narfstrom K., Seeliger M., Lai C.M., Vaegan, Katz M., Rakoczy E.P., et al. Morphological aspects related to long-term functional improvement of the retina in the 4 years following rAAV-mediated gene transfer in the RPE65 null mutation dog. Advances in Experimental Medicine and Biology 2008, 613:139-146.
88. Oesterhelt D. The structure and mechanism of the family of retinal proteins from halophilic archaea. Current Opinion in Structural Biology 1998, 8:489-500.
89. O'Reilly M., Kohn D.B., Bartlett J., Benson J., Brooks P.J., Byrne B.J., et al. Gene therapy for rare diseases: Summary of a National Institutes of Health workshop, September 13, 2012. Human Gene Therapy 2013, 24:355-362. 10.1089/hum.2013.064.
90. Pechan P., Rubin H., Lukason M., Ardinger J., DuFresne E., Hauswirth W.W. Novel anti-VEGF chimeric molecules delivered by AAV vectors for inhibition of retinal neovascularization. Gene Therapy 2009, 16:10-16. 10.1038/gt.2008.115.
91. Petrs-Silva H., Linden R. Advances in recombinant adeno-associated viral vectors for gene delivery. Current Gene Therapy 2013, 13:335-345.
92. Petrs-Silva H., Linden R. Advances in gene therapy technologies to treat retinitis pigmentosa. Clinical Ophthalmology 2014, 8:127-136. 10.2147/OPTH.S38041.
93. Rolling F., Le Meur G., Stieger K., Smith A.J., Weber M., Deschamps J.Y., et al. Gene therapeutic prospects in early onset of severe retinal dystrophy: Restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Bulletin et Memoires de l'Academie Royale de Medecine de Belgique 2006, 161:497-508. discussion 508-499.
94. Sarra G.M., Stephens C., Schlichtenbrede F.C., Bainbridge J.W., Thrasher A.J., Luthert P.J., et al. Kinetics of transgene expression in mouse retina following sub-retinal injection of recombinant adeno-associated virus. Vision Research 2002, 42:541-549.
95. Smith A.J., Bainbridge J.W., Ali R.R. Gene supplementation therapy for recessive forms of inherited retinal dystrophies. Gene Therapy 2012, 19:154-161. 10.1038/gt.2011.161.
96. Srivastava A., Lusby E.W., Berns K.I. Nucleotide sequence and organization of the adeno-associated virus 2 genome. Journal of Virology 1983, 45:555-564.
97. Surace E.M., Auricchio A. Versatility of AAV vectors for retinal gene transfer. Vision Research 2008, 48:353-359. 10.1016/j.visres.2007.07.027.
98. Tamboli V., Mishra G.P., Mitrat A.K. Polymeric vectors for ocular gene delivery. Therapeutic Delivery 2011, 2:523-536. 10.4155/tde.11.20.
99. Tan M.H., Smith A.J., Pawlyk B., Xu X., Liu X., Bainbridge J.B., et al. Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: Effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. Human Molecular Genetics 2009, 18:2099-2114. 10.1093/hmg/ddp133.
100. Testa F., Maguire A.M., Rossi S., Pierce E.A., Melillo P., Marshall K., et al. Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology 2013, 120:1283-1291. 10.1016/j.ophtha.2012.11.048.
101. Trapani I., Colella P., Sommella A., Iodice C., Cesi G., de Simone S., et al. Effective delivery of large genes to the retina by dual AAV vectors. EMBO Molecular Medicine 2014, 6:194-211. 10.1002/emmm.201302948.
102. Vandenberghe L.H., Bell P., Maguire A.M., Cearley C.N., Xiao R., Calcedo R., et al. Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey. Science Translational Medicine 2011, 3:88ra54. 10.1126/scitranslmed.3002103.
103. Vandenberghe L.H., Bell P., Maguire A.M., Xiao R., Hopkins T.B., Grant R., et al. AAV9 targets cone photoreceptors in the nonhuman primate retina. PLoS ONE 2013, 8:e53463. 10.1371/journal.pone.0053463.
104. Vandenberghe L.H., Auricchio A. Novel adeno-associated viral vectors for retinal gene therapy. Gene Therapy 2012, 19:162-168. 10.1038/gt.2011.151.
105. Wojno A.P., Pierce E.A., Bennett J. Seeing the light. Science Translational Medicine 2013, 5:175fs178. 10.1126/scitranslmed.3005798.
106. Yan Z., Zhang Y., Duan D., Engelhardt J.F. Trans-splicing vectors expand the utility of adeno-associated virus for gene therapy. Proceedings of the National academy of Sciences of the United States of America 2000, 97:6716-6721.
107. Yang J., Zhou W., Zhang Y., Zidon T., Ritchie T., Engelhardt J.F. Concatamerization of adeno-associated virus circular genomes occurs through intermolecular recombination. Journal of Virology 1999, 73:9468-9477.
108. Yin L., Greenberg K., Hunter J.J., Dalkara D., Kolstad K.D., Masella B.D., et al. Intravitreal injection of AAV2 transduces macaque inner retina. Investigative Ophthalmology & Visual Science 2011, 52:2775-2783. 10.1167/iovs.10-6250.
109. Zallocchi M., Binley K., Lad Y., Ellis S., Widdowson P., Iqball S., et al. EIAV-based retinal gene therapy in the shaker1 mouse model for Usher syndrome type 1B: Development of UshStat. PLoS ONE 2014, 9:e94272. 10.1371/journal.pone.0094272.
110. Zhang Y., Yue Y., Li L., Hakim C.H., Zhang K., Thomas G.D., et al. Dual AAV therapy ameliorates exercise-induced muscle injury and functional ischemia in murine models of Duchenne muscular dystrophy. Human Molecular Genetics 2013, 22:3720-3729. 10.1093/hmg/ddt224.
111. Zhang Y., Duan D. Novel mini-dystrophin gene dual adeno-associated virus vectors restore neuronal nitric oxide synthase expression at the sarcolemma. Human Gene Therapy 2012, 23:98-103. 10.1089/hum.2011.131.