Prospectives for gene therapy of retinal degenerations

Current Genomics

Volumn 13, Issue 5, 2012, Pages 350-362

  Thumann, Gabriele ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Adeno associated viral vector; Age related macular degeneration; Diabetic retinopathy; Gene therapy; Leber congenital amaurosis; Retinal degenerations; Retinitis pigmentosa; Sleeping Beauty transposon; Stargardt disease

Indexed keywords

ADENOVIRUS VECTOR; AGENTS ACTING ON THE EYE; BEVACIZUMAB; BRAIN DERIVED NEUROTROPHIC FACTOR; CILIARY NEUROTROPHIC FACTOR; CYCLIC GMP; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; GUANYLATE CYCLASE; HEMAGGLUTININ; PHOSPHODIESTERASE VI; PIGMENT EPITHELIUM DERIVED FACTOR; PROTEIN ABCA4; PROTEIN FLT01; PROTEIN FLT23K; RANIBIZUMAB; RECOMBINANT PROTEIN; RETINAL PIGMENT EPITHELIUM 65; RHODOPSIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG; VASCULOTROPIN ANTIBODY; VISUAL PIGMENT;

ADENOVIRUS; ARTICLE; BLINDNESS; CELL PROLIFERATION; CLOSED ANGLE GLAUCOMA; COMPETITIVE INHIBITION; DIABETIC RETINOPATHY; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG EFFICACY; DRUG HALF LIFE; ELECTROPORATION; ENVIRONMENTAL FACTOR; GENE THERAPY; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GLAUCOMA; HEARING LOSS; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS; IN VIVO STUDY; INTRAOCULAR PRESSURE; LEBER CONGENITAL AMAUROSIS; LENTIVIRINAE; MUTATIONAL ANALYSIS; NEOVASCULARIZATION (PATHOLOGY); NERVE DEGENERATION; NEUROPROTECTION; NONHUMAN; OPEN ANGLE GLAUCOMA; OPTICAL COHERENCE TOMOGRAPHY; OXIDATIVE STRESS; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIMARY CONGENITAL GLAUCOMA; PROTEIN EXPRESSION; RETINA DEGENERATION; RETINA GANGLION CELL; RETINA MACULA AGE RELATED DEGENERATION; RETINITIS PIGMENTOSA; SIGNAL TRANSDUCTION; STARGARDT DISEASE; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; WILD TYPE;

ANIMALIA;

EID: 84863953872     PISSN: 13892029     EISSN: 18755488     Source Type: Journal    
DOI: 10.2174/138920212801619214     Document Type: Article

References (194)

1. Zvyaga, T.A.; Fahmy, K.; Sakmar, T.P. Characterization of rhodopsin-transducin interaction: a mutant rhodopsin photoproduct with a protonated Schiff base activates transducin. Biochemistry, 1994, 33, 9753-9761.
2. Downs, M, A.; Arimoto, R.; Marshall, G.R.; Kisselev, O.G. G-protein alpha and beta-gamma subunits interact with conformationally distinct signaling states of rhodopsin. Vision Res., 2006, 46, 4442-8.
3. Marlhens, F. Bareil, C.; Griffoin, J.M.; Zrenner, E.; Amalric, P.; Eliaou, C.; Liu, S.Y.; Harris, E.; Redmond, T.M.; Arnaud, B.; Claustres, M.; Hamel, C.P. Mutations in RPE65 cause Leber's congenital amaurosis. Nat. Genet., 1997, 17,139-41.
4. Hamel, C.P.; Griffoin, J.M.; Bazalgette, C.; Lasquellec, L.; Duval, P.A.; Bareil, C.; Beaufrère, L.; Bonnet, S.; Eliaou, C.; Marlhens, F.; Schmitt-Bernard, C.F.; Tuffery, S.; Claustres, M.; Arnaud, B. Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes. J. Fr. Ophtalmol., 2000, 23, 985-95.
5. Gu, S.M.; Thompson, D.A.; Srikumari, C.R.; Lorenz, B.; Finckh, U.; Nicoletti, A.; Murthy, K.R.; Rathmann, M.; Kumaramanickavel, G.; Denton, M.J.; Gal, A. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet., 1997, 17, 194-197.
6. Farrar, G.J.; Kenna, P.; Jordan, S.A.; Kumar-Singh, R.; Humphries, M.M.; Sharp, E.M.; Sheils, D.M.; Humphries, P. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature, 1991, 354, 478-480.
7. Kajiwara, K.; Hahn, L.B.; Mukai, S.; Travis, G.H.; Berson, E.L.; Dryja, T.P. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature, 1991, 354, 480-483.
8. Maguire, A.M.; Simonelli, F.; Pierce, E.A.; Pugh, E.N. Jr; Mingozzi, F.; Bennicelli, J.; Banfi, S.; Marshall, K.A.; Testa, F.; Surace, E.M.; Rossi, S.; Lyubarsky, A.; Arruda, V.R.; Konkle, B.; Stone, E.; Sun, J.; Jacobs. J. Dell'Osso, L.; Hertle, R.; Ma, J.X.; Redmond, T.M.; Zhu, X.; Hauck, B.; Zelenaia, O.; Shindler, K.S.; Maguire, M.G.; Wright, J.F.; Volpe, N.J.; McDonnell, J.W.; Auricchio, A.; High, K.A.; Bennett. J. Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis. New Engl. J. Med., 2008, 358, 2240-2248.
9. Bainbridge, J.W.; Smith, J.; Barker, S.S.; Robbie, S.; Henderson, R.; Balaggan, K.; Viswanathan, A.; Holder, G.E.; Stockman, A.; Tyler, N.; Petersen-Jones, S.; Bhattacharya, S.S.; Thrasher, A.J.; Fitzke, F.W.; Carter, B.J.; Rubin, G.S.; Moore, A.; Ali, R.R. Effect of gene therapy on visual function in Leber's congenital amaurosis. New Engl. J. Med., 2008, 358, 2231-2239.
10. Hauswirth, 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.; Jacobson, S.G. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adenoassociated virus gene vector: short-term results of a phase I trial. Hum. Gene Ther., 2008, 19, 979-990.
11. Cideciyan, A.V.; Aleman, T.S.; Boye, S.L.; Schwartz, S.B.; Kaushal, S.; Roman, A.J.; Pang, J.J.; Sumaroka, A.; Windsor, E.A.; Wilson, J.M.; Flotte, T.R.; Fishman, G.A.; Heon, E.; Stone, E.M.; Byrne, B.J.; Jacobson, S.G.; Hauswirth, W.W. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc. Natl. Acad. Sci. U.S.A., 2008, 105, 15112-15117.
12. Simonelli, F.; Maguire, A.M.; Testa, F.; Pierce, E.A.; Mingozzi, F.; Bennicelli, J.L.; Rossi, S.; Marshall, K.; Banfi, S.; Surace, E.M.; Sun, J.; Redmond, T.; Zhu, X.; Shindler, K.S.; Ying, G.S.; Ziviello, C.; Acerra, C.; Wright, J.F.; McDonnell, J.W.; High, K.A.; Bennett. J.; Auricchio, A. Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration. Molecular Therapy, 2010, 18, 643-650.
13. Milam AH, Li ZY, Fariss RN. Histopathology of the human retina in retinitis pigmentosa. Prog. Retin. Eye Res., 1998, 17, 175-205.
14. Cideciyan, A.V.; Hood, D.C.; Huang, Y.; Banin, E.; Li, Z.Y.; Stone, E.M.; Milam, A.H.; Jacobson, S.G. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc. Natl. Acad. Sci. U.S.A., 1998, 95, 7103-7108.
15. Berson, E. L. Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect. Trans. Am. Ophthalmol. Soc., 1990, 88, 355-388.
16. Xu, L.; Hu, L.; Ma, K.; Li, J.; Jonas, J.B. Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study. Eur. J. Ophthalmol., 2006, 16, 865-866.
17. Sen, P.; Bhargava, A.; George, R.; Ve Ramesh, S.; Hemamalini, A.; Prema, R.; Kumaramanickavel, G.; Vijaya, L. Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic Epidemiol., 2008, 15, 279-281.
18. Hartong, D.T.; Berson, E.L.; Dryja, T.P. Retinitis pigmentosa. Lancet, 2006, 368, 1795-809.
19. Millington-Ward, S.; Chadderton, M.; O'Reilly, M,; Palfi, A.; Goldmann, T.; Kilty, C.; Humphries, M.; Wolfrum, U.; Bennett, J.; Humphries, P.; Kenna, P.F.; Farrar, G.J. Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa. Mol. Ther. 2011, 19, 642-64.
20. Li, T.; Snyder, W.K.; Olsson, J.E.; Dryja, T.P. Transgenic mice carrying the dominant rhodopsin mutation P347S: Evidence for defective vectorial transport of rhodopsin to the outer segments. Proc. Natl. Acad. Sci. U.S.A., 1996, 93, 14176-14181.
21. Chang, B.; Hawes, N.L.; Hurd, R.E.; Davisson, M.T.; Nusinowitz, S.; Heckenlively, J.R. Retinal degeneration mutants in the mouse. Vision Res., 2002, 42. 517-25.
22. Takahashi, M.; Miyoshi, H.; Verma, I.M.; Gage, F.H. Rescue from Photoreceptor Degeneration in the rd Mouse by Human Immunode ficiency Virus Vector-Mediated Gene Transfer J. Virol., 1999, 73, 7812-7816.
23. Davis, R.J.; Tosi, J.; Janisch, K.M.;. Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphiccGMPphosphodiesterase 6 allele (Pde6bH620Q). Invest. Ophthalmol. Vis. Sci., 2008, 49, 5067-76.
24. Tosi, T.; Sancho-Pelluz, J.; Davis, R.J.;. Lentivirus-mediated expression of cDNA and shRNA slows degeneration in retinitis pigmentosa. Exp. Biol. Med., 2011, 236, 1211-1217.
25. Li, Y.; Tao, W.; Luo, L.;. NTF induces regeneration of cone outer segments in a rat model of retinal degeneration. PLoS One, 2010, 5, e9495.
26. Dalkara, D.; Kolstad, K.D.; Guerin, K.I.; Hoffmann, N.V.; Visel, M.; Klimczak, R.R.; Schaffer, D.V.; Flannery, J.G. AAV Mediated GDNF Secretion From Retinal Glia Slows Down Retinal Degeneration in a Rat Model of Retinitis Pigmentosa. Molecular Therapy, 2011, 19, 1602-1608.
27. Stargardt, K. Uber familiare progressive Degeneration in der Maculagegend des Auges. Graefes Arch. Ophthalmol., 1909, 71, 534-550.
28. Blacharski, P.A.; Fundus flavimaculatus In: Retinal dystrophies and degenerations; Newsome D. A.; Raven Press: New York, NY, 1988; pp.135-59.
29. Anderson, K.L.; Baird, L.; Lewis, R.A.; Chinault, A.C.; Otterud, B.; Leppert, M.; Lupski, J.R. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am. J. Hum. Genet., 1995, 57, 1351-1363.
30. Allikmets, R.; Singh, N.; Sun, H.; Shroyer, N.F.; Hutchinson, A.; Chidambaram, A.;. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet., 1997, 15, 236-246.
31. Azarian, S.M.; Travis, G.H. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett., 1997, 409, 247-252.
32. Illing, M.; Molday, L.L.; Molday, R.S. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J. Biol. Chem., 1997, 272, 10303-10310.
33. Sun, H.; Molday, R.S.; Nathans, J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J. Biol. Chem., 1999, 274, 8269-8281.
34. Weng, J.; Mata, N.L.; Azarian, S.M.; Tzekov, R.T.; Birch, D.G.; Travis, G.H. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell, 1999, 98, 13-23.
35. Cubeddu, R.; Taroni, P.; Hu, D.N.; Sakai, N.; Nakanishi, K.; Roberts, J.E. Photophysical studies of A2-E putative precursor of lipofuscin, in human retinal pigment epithelial cells. Photochem. Photobiol., 1999, 70, 172-5.
36. Mata, N.L.; Tzekov, R.T.; Liu, X.; Weng, J.; Birch, D.G.; Travis, G.H. Delayed dark-adaptation and lipofuscin accumulation in abcr+/α mice: implications for involvement of ABCR in agerelated macular degeneration. Invest. Ophthalmol. Vis. Sci., 2001, 42, 1685-1690.
37. Kong, J.; Kim, S-R.; Binley, K.; Pata, I.; Doi, K.; Mannik, J.; Zernant-Rajang, J.; Kan, O.; Iqball, S.; Naylor, S.; Sparrow, J.R.; Gouras, P.; Allikmets, R. Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene Ther., 2008, 15, 1311-1320.
38. Leber, T. Uber Retinitis Pigmentosa und Angeborene Amaurose. Graefes Arch. Klin. Ophthalmol., 1869, 15, 1-25.
39. Schappert-Kimmijser, J.; Henkes, H, E.; Bosch. J. Amaurosis congenita (Leber). Arch. Ophthalmol., 1959, 6, 218-225.
40. Alstrom, C.H.; Olson, O. Heredo-retinopathia congenitalis monohybrida recessiva autosomalis. Hereditas, 1957, 43, 1-17845.
41. Mihelec, M.; Pearson, R.A.; Robbie, S.J.; Buch, P.K.; Azam, S.A.; Bainbridge, J.W.; Smith, A.J.; Ali, R.R. 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. Hum. Gene Ther., 2011, 22, 1179-90.
42. Pawlyk, B.S.; Bulgakov, O.V.; Liu, X.; Xu, X.; Adamian, M.; Sun, X.; Khani, S.C.; Berson, E.L.; Sandberg, M.A.; Li, T. Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Hum. Gene Ther., 2010, 21. 993-1004.
43. Ku, C.A.; Chiodo, V.A.; Boye, S.L.; Goldberg, A.F.; Li, T.; Hauswirth, W.W.; Ramamurthy, V. Gene therapy using selfcomplementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis. Hum. Mol. Genet., 2011, 20, 4569-81.
44. den Hollander, A.I.; Roepman, R.; Koenekoop, R.K.; Cremers, F.P. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog. Retin. Eye Res., 2008, 27, 391-419.
45. Veske, A.; Nilsson, S.E.; Narfstrom, K.; Gal, A. Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics, 1999, 57, 57-61.
46. Redmond, T. M.; Yu, S.; Lee, E.; Bok, D.; Hamasaki, D.; Chen, N.; Goletz, P.; Ma, J.X.; Crouch, R. K.; Pfeifer, K. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat. Genet., 1998, 20, 344-351.
47. Pang, J.J.; Chang, B.; Hawes, N.L.;. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol. Vis., 2005, 11, 152-162.
48. Acland, G.M.; Aguirre, G.D.; Bennett. J.;. 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. Mol. Therapy, 2005, 12, 1072-1082.
49. Jacobson, SG.; Acland, G.M.; Aguirre, G.D.; Aleman. T.S.; Schwartz, S.B.; Cideciyan, A.V.; Zeiss, C.J.; Komaromy, A.M.; Kaushal, S.; Roman, A.J.; Windsor, E.A.; Sumaroka, A.; Pearce-Kelling, S.E.; Conlon, T.J.; Chiodo, V.A.; Boye, S.L.; Flotte, T.R.; Maguire, A, M.; Bennett, J.; Hauswirth, W.W. Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol. Therapy, 2006, 13, 1074-1084.
50. Pang, J.J.; Chang, B.; Kumar, A.; Nusinowitz, S.; Noorwez, S.M.; Li, J.; Rani, A.; Foster, T.C.; Chiodo, V, A.; Doyle, T.; Li, H.; Malhotra, R.; Teusner, J.T.; McDowell, J.H.; Min, S.H.; Li, Q.; Kaushal, S.; Hauswirth, W.W. Gene therapy restores visiondependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol. Therapy, 2006, 13, 565-72.
51. Nusinowitz, S.; Ridder, W.H. 3rd, Pang, J.J.; Chang, B.; Noorwez, S.M.; Kaushal, S.; Hauswirth, W.W.; Heckenlively, J.R. Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function. Vision Res., 2006, 46, 3926-34.
52. Lai, C.M.; Yu, M.J.; Brankov, M.; Barnett, N.L.; Zhou, X.; Redmond, T.M.; Narfstrom, K.; Rakoczy, P.E. Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/-knockout mouse eye results in limited rescue. Genet. Vaccines Ther., 2004, 2, 3-18.
53. 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.; Jacobson, S.G.; Hauswirth, W.W.; Bennett, J. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet., 2001, 28, 92-95.
54. Li, X,; Li, W.; Dai, X.; Kong, F.; Zheng, Q.; Zhou, X.; Lü, F.; Chang, B.; Rohrer, B.; Hauswirth, W.W.; Qu, J.; Pang, J.J. Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci., 2011, 52, 7-15.
55. Dejneka, N.S.; Surace, E.M.; Aleman, T.S.; Cideciyan, A.V.; Lyubarsky, A.; Savchenko, A.; Redmond, T.M.; Tang, W.; Wei, Z.; Rex, T.S.; Glover, E.; Maguire, A.M.; Pugh, E.N., Jr.; Jacobson, S.G.; Bennett, J. In utero gene therapy rescues vision in a murine model of congenital blindness. Molecular Therapy, 2004, 9, 182-188.
56. Bennicelli, J.; Wright, JF.; Komaromy, A.; Jacobs, J.B.; Hauck, B.; Zelenaia, O.; Mingozzi, F.; Hui, D.; Chung, D.; Rex, T.S.; Wei, Z.; Qu, G.; Zhou, S.; Zeiss, C.; Arruda, V.R.; Acland, G.M.; Dell'Osso, L.F.; High, K.A.; Maguire, A. M; Bennett, J. Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Molecular Therapy, 2008, 16, 458-465.
57. Maguire, A.M.; Simonelli, F.; Pierce, E.A.; Pugh, E.N., Jr.; Mingozzi. F.; Bennicelli, J.; Banfi, S.; Marshall, K.; Testa, F.; Surace, E.M.; Rossi, S.; Lyubarsky, A.; Arruda, V.R.; Konkle, B.; Stone, E.; Sun, J.; Jacobs, J.; Dell'Osso, L.; Hertle, R.; Ma, J.X.; Redmond, T.M.; Zhu, X.; Hauck, B.; Zelenaia, O.; Shindler, K.S.; Maguire, M.G.; Wright, J.F.; Volpe, N.J.; McDonnell, J.W.; Auricchio, A.; High, K.A.; Bennett, J. Safety and efficacy of gene transfer for Leber's congenital amaurosis. New Engl. J. Med., 2008, 358, 2240-2248.
58. 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.; Fulton, A.; Marshall, K.A.; Banfi, S.; Chung, D.C.; Morgan, J.I.; Hauck, B.; Zelenaia, O.; Zhu, X.; Raffini, L.; Coppieters, F.; De Baere, E.; Shindler, K.S.; Volpe, N.; Surace, E.M.; Acerra, C.; Lyubarsky, A.; Redmond, T.M.; Stone, E.; Sun, J.; McDonnell, J. W,; Leroy, B.P.; Simonelli, F.; Bennett, J. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis a phase 1 dose-escalation trial. Lancet, 2009, 374, 1597-1605.
59. Simonelli, F.; Maguire, A.M.; Testa, F.; Pierce, E.A.; Mingozzi, F.; Bennicelli, J.L.; Rossi, S.; Marshall, K.; Banfi, S.; Surace, E.M.; Sun, J.; Redmond, T.M.; Zhu, X.; Shindler, K.S.; Ying, G.S.; Ziviello, C.; Acerra, C.; Wright, J.F.; McDonnell, J.W.; High, K.A.; Bennett, J.; Auricchio, A. Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol. Therapy, 2010, 18, 643-650.
60. Bainbridge, J.W.; Smith, A.J.; Barker, S.S.; Robbie, S.; Henderson, R.; Balaggan, K.; Viswanathan, A.; Holder, G. E,; Stockman, A.; Tyler, N.; Petersen-Jones. S.; Bhattacharya, S.S.; Thrasher, A.J.; Fitzke, F.W.; Carter, B.J.; Rubin, G.S.; Moore, A.T.; Ali, R.R. Effect of gene therapy on visual function in Leber's congenital amaurosis. New Engl. J. Med., 2008, 358, 2231-2239.
61. Cideciyan, A.V.; Hauswirth, W.W.; Aleman, T.S.; Kaushal, S.; Schwartz, S.B.; Boye, S.L.; Windsor, E.A.; Conlon, T.J.; Sumaroka, A.; Pang, J.J.; Roman, A.J.; Byrne, B.J.; Jacobson, S.G. Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum. Gene Ther., 2009, 20, 999-1004.
62. Hauswirth, 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.; Jacobson, S.G. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adenoassociatedvirus gene vector: short-term results of a phase I trial. Hum. Gene Ther. 2008, 19, 979-990.
63. Jacobson, S.G.; Cideciyan, A.V.; Ratnakaram, R.; Heon, E.; Schwartz, S.B.; Roman, A.J.; Peden, M.C.; Aleman, T.S.; Boye, S.L.; Sumaroka, A.; Conlon, T.J.; Calcedo, R.; Pang, J.J.; Erger, K.E.; Olivares, M. B,; Mullins, C.L.; Swider, M.; Kaushal, S.; Feuer, W.J.; Iannaccone, A.; Fishman, G.A.; Stone, E.M.; Byrne, B.J.; Hauswirth, W.W. Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years. Arch. Ophthalmol., 2012, 130, 9-24.
64. 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.; Fulton, A.; Marshall, K.\A.; Banfi, S.; Chung, D.C.; Morgan, J.I.; Hauck, B.; Zelenaia, O.; Zhu, X.; Raffini, L.; Coppieters, F.; De Baere, E.; Shindler, K.S.; Volpe, N.J.; Surace, E.M.; Acerra, C.;, Lyubarsky, A.; Redmond, T.M.; Stone, E.; Sun, J.; McDonnell, J.W.; Leroy, B.P.; Simonelli, F.; Bennett, J. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet, 2009, 74, 1597-1605.
65. Quigley, H.A.; Broman, A.T. The number of people with glaucoma worldwide in 2010 and 2020. Br. J. Ophthalmol., 2006, 90, 262-267.
66. Dandona, L.; Dandona, R.; Srinivas, M.; Giridhar, P.; Vilas, K.; Prasad, M.N.; John, R.K.; McCarty, C.A.; Rao, G.N. Blindness in the Indian state of Andhra Pradesh. Invest. Ophthalmol. Vis. Sci., 2001, 42, 908-916.
67. Bejjani, B.A.; Lewis, R.A.; Tomey, K.F.; Anderson, K.L.; Dueker, D.K.; Jabak, M.; Astle, W.F.; Otterud, B.; Leppert, M.; Lupski, J.R. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am. J. Hum. Genet., 1998, 62, 325-33.
68. Plásilová, M.; Feráková, E.; Kádasi, L.; Poláková, H.; Gerinec, A.; Ott, J.; Ferák, V. Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Human Heredity, 1998, 48, 30-33.
69. Stoilov, I.; Akarsu, A.N.; Sarfarazi, M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet., 1997, 6, 641-647.
70. Ali, M.; McKibbin. M.; Booth, A.; Parry, D.A.; Jain, P.; Riazuddin, S.A.; Hejtmancik. J.F.; Khan, S.N.; Firasat, S.; Shires, M.; Gilmour, D.F.; Towns, K.; Murphy, A.L.; Azmanov, D.; Tournev, I.; Cherninkova, S.; Jafri, H.; Raashid, Y.; Toomes, C.; Craig, J.; Mackey, D.A.; Kalaydjieva, L.; Riazuddin, S.; Inglehearn, C.F. Null mutations in LTBP2 cause primary congenital glaucoma. Am. J. Hum. Genet., 2009, 84, 664-671.
71. Morissette, J.; Clépet, C.; Moisan, S.; Dubois, S.; Winstall, E.; Vermeeren, D.; Nguyen, T.D.; Polansky, J.R.; Côté, G.; Anctil, J.L.; Amyot, M.; Plante, M.; Falardeau, P.; Raymond, V. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat. Genet., 1998, 19, 319-321.
72. Gould, D.B.; Miceli-Libby, L.; Savinova, O.V.; Torrado, M.; Tomarev, S.I.; Smith, R.S.; John, S.W. Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol. Cell Biol., 2004, 24, 9019-9025.
73. Kim, B.S.; Savinova, O.V.; Reedy, M.V.; Martin, J.; Lun, Y.; Gan, L.; Smith, R.S.; Tomarev, S.I.; John, S.W.; Johnson, R.L. Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function. Mol. Cell Biol., 2001, 21, 7707-7713.
74. Gould, D.B.; Reedy, M.; Wilson, L.A.; Smith, R.S.; Johnson, R.L.; John, S.W. Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. Mol. Cell Biol., 2006, 26, 8427-8436.
75. Mozaffarieh, M.; Grieshaber, M.C.; Flammer, J. Oxygenand blood flow: players in the pathogenesis of glaucoma. Mol. Vision, 2008, 14, 224-233.
76. Mozaffarieh, M.; Grieshaber, M.C.; Orgul, S.; Flammer. J. The potential value of natural antioxidative treatment in glaucoma. Surv. Ophthalmol., 2008, 53, 479-505.
77. Dreyer, E. B. A proposed role for excitotoxicity in glaucoma. J. Glaucoma, 1998, 7, 62-67.
78. Dreyer, E. B.; Grosskreutz, C. L. Excitatory mechanisms in retinal ganglion cell death in primary open angle glaucoma(POAG). Clin. Neurosci., 1997, 4, 270-273.
79. Levin, L.A. Neuroprotection and regeneration in glaucoma. Ophthalmol. Clin. North Am., 2005, 18, 585-96.
80. Bull, N.D.; Irvine, K.A.; Franklin, R.; Martin, K. Transplanted oligodendrocyte precursor cells reduce neurodegeneration in a model of glaucoma. Invest. Ophthalmol. Vis. Sci., 2009, 50, 4244-4253.
81. Johnson, T.; Bull, N.D.; Hunt, D.P.; Marina, N.; Tomarev, S.I.; Martin, K.R. Neuroprotective effects of intravitreal mesenchymal stem cell transplantation in experimental glaucoma. Invest. Ophthalmol. Vis. Sci., 2010, 51, 2051-2059.
82. Harper, M.; Grozdanic, S.D.; Blits, B.; Kuehn, M.H.; Zamzow, D.; Buss, J.E.; Kardon, R.H.; Sakaguchi, D.S. Transplantation of BDNF-secreting mesenchymal stem cells provides neuroprotection in chronically hypertensive rat eyes. Invest. Ophthalmol. Vis. Sci., 2011, 52, 4506-4515.
83. van Adel, B.A.; Kostic, C.; Deglon, N.; Ball, A.K.; Arsenijevic, Y. Delivery of ciliary neurotrophic factor via lentiviral-mediated transfer protects axotomized retinal ganglion cells for an extended period of time. Hum. Gene Ther., 2003, 14, 103-115.
84. Miyazaki, M.; Ikeda, Y.; Yonemitsu, Y.; Goto, Y.; Murakami, Y.; Yoshida, N.; Tabata, T.; Hasegawa, M.; Tobimatsu, S.; Sueishi, K.; Ishibashi, T. Pigment epithelium-derived factor gene therapy targeting retinal ganglion cell injuries: neuroprotection against loss of function in two animal models. Hum. Gene Ther., 2011, 22, 559-565.
85. Ishikawa, H.; Takano, M.; Matsumoto, N.; Sawada, H.; Ide, C.; Mimura, O,; Dezawa, M. Effect of GDNF gene transfer into axotomized retinal ganglion cells using in vivo electroporation with a contact lens-type electrode. Gene Ther., 2005, 2, 289-298.
86. Zhang, X.; Saaddine, J.B.; Chou, C.F.; Cotch, M.F.; Cheng, Y.J.; Geiss, L.S.; Gregg, E.W.; Albright, A.L.; Klein, B.E.; Klein, R. Prevalence of diabetic retinopathy in the United States, 2005-2008. JAMA, 2010, 304, 649-656.
87. Giacco, F.; Brownlee, M. Oxidative stress and diabetic complications. Circ. Res., 2010, 107, 1058-1070.
88. Santos, J.M.; Mohammad, G.; Zhong, Q.; Kowluru, R.A. Diabetic retinopathy, superoxide damage and antioxidants. Curr. Pharm. Biotechnol., 2011, 12, 352-361.
89. Milne, R.; Brownstein, S. Advanced glycation end products and diabetic retinopathy. Amino Acids 2011 Sep 11. [Epub ahead of print].
90. Sheikpranbabu, S.; Haribalaganesh, R.; Gurunathan, S. Pigment epithelium-derived factor inhibits advanced glycation endproducts-induced cytotoxicity in retinal pericytes. Diabetes Metab., 2011, 37, 505-511.
91. Trudeau, K.; Molina, A.J.; Roy, S. High Glucose Induces Mito chondrial Morphology and Metabolic Changes in Retinal Pericytes. Invest. Ophthalmol. Vis. Sci., 2011, 52, 8657-8664.
92. Han, J.H.; Ha, S.W.; Lee, I.K.; Kim, B.W.; Kim, J.G. High glucose-induced apoptosis in bovine retinal pericytes is associated with transforming growth factor beta and betaIG-H3: betaIG-H3 induces apoptosis in retinal pericytes by releasing Arg-Gly-Asp peptides. Clin. Experiment. Ophthalmol., 2010, 38, 620-628.
93. Alikhani, M.; Roy, S.; Graves, D.T. FOXO1 plays an essential role in apoptosis of retinal pericytes. Mol. Vis., 2010, 16, 408-415.
94. Suzuki, Y.; Nakazawa, M.; Suzuki, K.; Yamazaki, H.; Miyagawa, Y. Expression profiles of cytokines and chemokines in vitreous fluid in diabetic retinopathy and central retinal vein occlusion. Jpn. J. Ophthalmol., 2011, 55, 256-263.
95. Merlak, M.; Kovacevi, D.; Balog, T.; Marotti, T.; Misljenovi, T.; Mikulici, M.; Dekaris, I. Expression of vascular endothelial growth factor in proliferative diabetic retinopathy. Coll. Antropol., 2008, 32 (Suppl 2), 39-43.
96. Khalfaoui, T.; Lizard, G.; Beltaief, O.; Colin, D.; Ben Hamida, J.; Errais, K.; Ammous, I.; Zbiba, W.; Tounsi, L.; Zhioua, R,; Anane, R.; Ouertani-Meddeb, A. Immunohistochemical analysis of cellular adhesion molecules (ICAM-1, VCAM-1) and VEGF in fibrovascular membranes of patients with proliferative diabetic retinopathy: preliminary study. Pathol. Biol. (Paris), 2009, 57, 513-517.
97. Mathews, M.K.; Merges, C.; McLeod, D.S.; Lutty, G.A. Vascular endothelial growth factor and vascular permeability changes in human diabetic retinopathy. Invest. Ophthalmol. Vis. Sci., 1997, 38, 2729-2741.
98. Antonetti, D.A.; Barber, A.J.; Khin, S.; Lieth E, Tarbell, J.M.; Gardner, T.W. Vascular permeability in experimental diabetes is associated with reduced endothelial occludin content: vascular endothelial growth factor decreases occludin in retinal endothelial cells. Penn State Retina Research Group. Diabetes, 1998, 47, 1953-1959.
99. Curtis, T.M.; Gardiner, T.A.; Stitt, A.W. Microvascular lesions of diabeticretinopathy: clues towards understanding pathogenesis? Eye (London), 2009, 23, 1496-1508.
100. Frank, R.N. Diabetic retinopathy. New Engl. J. Med., 2004, 350, 48-58.
101. Boeri, D.; Maiello, M.; Lorenzi, M. Increased prevalence of microthromboses in retinal capillaries of diabetic individuals. Diabetes, 2001, 50, 1432-1439.
102. Bixler, G.V.; Vanguilder, H.D.; Brucklacher, R.M.; Kimball, S.R.; Bronson, S, K.; Freeman, W.M. Chronic insulin treatment of diabetes does not fully normalize alterations in the retinal transcriptome. BMC Med. Genomics, 2011, 4, 40.
103. Ideno, J.; Mizukami, H.; Kakehashi, A.; Saito, Y.; Okada, T.; Urabe, M.; Kume, A.; Kuroki, M.; Kawakami, M.; Ishibashi, S.; Ozawa, K. Prevention of diabetic retinopathy by intraocular soluble flt-1 gene transfer in a spontaneously diabetic rat model. Intl. J. Mol. Med., 2007, 19, 75-79.
104. Pechan, P.;Rubin, H.; Lukason, M.; Ardinger, J.; DuFresne, E.; Hauswirth, W.W.; Wadsworth, S.C.; Scaria, A. Novel anti-VEGF chimeric molecules delivered by AAV vectors for inhibition of retinal neovascularization. Gene Therapy, 2009, 16, 10-16.
105. Le Gat, L.; Gogat, K.; Bouquet, C.; Saint-Geniez, M.; Darland, D.; Van Den Berghe, L.; Marchant, D.; Provost, A.; Perricaudet, M.; Menasche, M.; Abitbol, M. In vivo adenovirus-mediated delivery of auPA/uPAR antagonist reduces retinal neovascularization in a mouse model of retinopathy. Gene Therapy, 2003, 10, 2098-2103.
106. Ramirez, M.; Wu, Z.; Moreno-Carranza, B.; Jeziorski, M.C.; Arnold, E.; Díaz-Lezama, N.; Martínez de la Escalera, G.; Colosi, P.; Clapp, C. Vasoinhibin gene transfer by adeno-associated virus type 2 protects against VEGF-and diabetes-induced retinal vasopermeability. Invest. Ophthalmol. Vis. Sci., 2011, 52, 8944-8950.
107. rd. Risk factors for the incidence of Advanced Age-Related Macular Degeneration in the Age-Related Eye Disease Study (AREDS) AREDS report no. 19. Ophthalmology, 2005, 112, 533-539.
108. Yoshida, T. Molecular mechanism of choroidal neovascularization in age-related macular degeneration. Nippon Ganka Gakkai Zasshi, 2007, 111, 881-891.
109. Tong, J.P.; Chan, W.M.; Liu, D.T.; Lai, T.Y.; Choy, K.W.; Pang, C.P.; Lam, D.S. Aqueous humor levels of vascular endothelial growth factor and pigment epithelium-derived factor in polypoidal choroidal vasculopathy and choroidal neovascularization. Am. J. Ophthalmol., 2006, 141, 456-462.
110. Bhutto, I.A.; McLeod, D.S.; Hasegawa, T.; Kim, S.Y.; Merges, C.; Tong, P.; Lutty, G.A. Pigment epithelium-derived factor (PEDF) and vascular endothelial growth factor (VEGF) in aged human choroid and eyes with age-related macular degeneration. Exp. Eye. Res., 2006, 82, 99-110.
111. Kaiser, P.K. Treatment of Age-Related Macular Degeneration with Photodynamic Therapy (TAP) Study Group. Verteporfin therapy of subfovealchoroidal neovascularization in age-related macular degeneration: 5-year results of two randomized clinical trials with an open-label extension: TAP report no. 8. Graefes Arch. Clin. Exp. Ophthalmol., 2006, 244, 1132-1142.
112. Mruthyunjaya, P.; Stinnett, S.S.; Toth, C.A. Change in visual function after macular translocation with 360 degrees retinectomy for neovascular age-related macular degeneration. Ophthalmology, 2004, 111, 1715-1724.
113. Binder, S.; Stolba, U.; Krebs, I.; Kellner, L.; Jahn, C.; Feichtinger, H.; Povelka, M.; Frohner, U.; Kruger, A.; Hilgers, R.D.; Krugluger, W. Transplantation of autologous retinal pigment epithelium in eyes with foveal neovascularization resulting from age-related macular degeneration: a pilot study. Am. J. Ophthalmol., 2002, 133, 215-224.
114. Kozulin, P.; Natoli, R.; Bumsted O'Brien, K.M.; Madigan, M.C.; Provis, J.M. The cellular expression of antiangiogenic factors in fetal primate macula. Invest. Ophthalmol. Vis. Sci., 2010, 51, 4298-4306.
115. Kociok, N.; Joussen, A.M. Varied expression of functionally important genes of RPE and choroid in the macula and in the periphery of normal human eyes. Graefes Arch. Clin. Exp. Ophthalmol., 2007, 245, 101-113.
116. Holekamp, N.M.; Bouck, N.; Volpert, O. Pigment epitheliumderived factor is deficient in the vitreous of patients with choroidal neovascularization due to age-related macular degeneration. Am. J. Ophthalmol., 2002, 134, 220-227.
117. Spranger, J.; Osterhoff, M.; Reimann, M.; Möhlig, M.; Ristow, M.; Francis, M.K.; Cristofalo, V.; Hammes, H.P.; Smith, G.; Boulton, M.; Pfeiffer, A.F. Loss of the antiangiogenic pigment epitheliumderived factor in patients with angiogenic eye disease. Diabetes, 2001, 50, 2641-2645.
118. Ohno-Matsui, K. Molecular mechanism for choroidal neovascularization in age-related macular degeneration. Nippon Ganka Gakkai Zasshi, 2003, 107, 657-673.
119. Kwak, N.; Okamoto, N.; Wood, J.; Campochiaro, P. VEGF is major stimulator in model of choroidal neovascularization. Invest Ophthalmol Vis Sci., 2004, 4, 3158-3164.
120. Brown, D.M.; Michels, M.; Kaiser, P.K.; Heier, J.S.; Sy, J.P.; Ianchulev, T; ANCHOR Study Group. Ranibizumab versus verteporfin photodynamic therapy for neovascular age-related macular degeneration: Two-year results of the ANCHOR study. Ophthalmology, 2009, 116, 57-65.
121. Rosenfeld, P.J.; Brown, D.M.; Heier, J.S.; Boyer, D.S.; Kaiser, P.K.; Chung, C.Y.; Kim, R. Y; MARINA Study Group. Ranibizumab for neovascular age-related macular degeneration. New Engl. J. Med., 2006, 355, 1419-1431.
122. Adelman, R.A.; Zheng, Q.; Mayer, H.R. Persistent ocular hypertension following intravitreal bevacizumab and ranibizumab injections. J. Ocul. Pharmacol. Ther., 2010, 26, 105-110.
123. Krishnan, R.; Goverdhan, S.; Lochhead, J. Submacularhaemorrhage after intravitrealbevacizumab compared with intravitrealranibizumab in large occult choroidal neovascularization. Clin. Experiment. Ophthalmol., 2009, 37, 384-388.
124. Mordenti, J.; Cuthbertson, R.A.; Ferrara, N.; Thomsen, K.; Berleau, L.; Licko, V.; Allen, P.C.; Valverde, C.R.; Meng, Y.G.; Fei, D.T.; Fourre, K.M.; Ryan. A.M. Comparisons of the intraocular tissue distribution, pharmacokinetics, and safety of 125I-labeled fulllength and Fab antibodies in rhesus monkeys following intravitreal administration. Toxicol. Pathol., 1999, 27, 536-544.
125. Amaral, J.; Becerra, S.P. Effects of human recombinant PEDF protein and PEDF-derived peptide 34-mer on choroidal neovascularization. Invest. Ophthalmol. Vis. Sci., 2010, 51, 1318-1326.
126. Crafoord, S.; Geng, L.; Seregard, S.; Algvere, P.V. Photoreceptor survival in transplantation of autologous iris pigment epithelial cells to the subretinal space. Acta Ophthalmol. Scand., 2002, 80, 387-394.
127. Thumann, G.; Salz, A.K.; Walter, P.; Johnen, S. Preservation of photoreceptors in dystrophic RCS rats following allo-and xenotransplantation of IPE cells. Graefes Arch. Clin. Exp. Ophthalmol., 2009, 247, 363-369.
128. Carr, A.J.; Vugler, A.A.; Hikita, S.T.; Lawrence, J.M.; Gias, C.; Chen, L.L.; Buchholz, D.E.; Ahmado, A.; Semo, M.; Smart, M.J.; Hasan, S.; da Cruz, L.;Johnson, L.V.; Clegg, D.O.; Coffey, P.J. Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat. PLoS One, 2009, 4, e8152.
129. Lu, B.; Malcuit, C.; Wang, S.; Girman, S.; Francis, P.; Lemieux, L.; Lanza, R.; Lund, R. Long-term safety and function of RPE from human embryonic stem cells in preclinical models of macular degeneration. Stem Cells, 2009, 27, 2126-2135.
130. Zhang, T.; Hu, Y.; Li, Y.; Wu, J.; Zhao, L.; Wang, C.; Liu, Y.; Yin, Z.; Ma, Z. Photoreceptors repair by autologous transplantation of retinal pigment epithelium and partial-thickness choroid graft in rabbits. Invest. Ophthalmol. Vis. Sci., 2009, 50, 2982-2988.
131. Falkner-Radler, C.I.; Krebs, I.; Glittenberg, C.; Povazay, B.; Drexler, W.; Graf, A.; Binder, S. Human retinal pigment epithelium (RPE) transplantation: outcome after autologous RPE-choroid sheet and RPE cell-suspension in a randomised clinical study. Br. J. Ophthalmol., 2011, 95, 370-375.
132. Binder, S.; Stanzel, B.; Krebs, I.; Glittenberg. C. Transplantation of the RPE in AMD. Prog. Retin. Eye Res., 2007, 26, 516-554.
133. Binder, S.; Krebs, I.; Hilgers, R.D.; Abri, A.; Stolba, U.; Assadoulina, A.; Kellner, L.; Stanzel, B.V.; Jahn. C.; Feichtinger. H. Outcome of transplantation of autologous retinal pigment epithelium in age-related macular degeneration: a prospective trial. Invest. Ophthalmol. Vis. Sci., 2004, 45, 4151-4160.
134. Aisenbrey, S.; Lafaut, B.A.; Szurman, P.; Hilgers, R.; Esser, P.; Walter, P.; Bartz-Schmidt, K.; Thumann, G. Iris pigment epithelial translocation in the treatment of exudative macular degeneration: a 3-year follow-up. Arch. Ophthalmol., 2006, 124, 183-188.
135. Lappas, A.; Foerster, A.M.; Weinberger, A.W.; Coburger, S.; Schrage, N.F.; Kirchhof, B. Translocation of iris pigment epithelium in patients with exudative age-related macular degeneration: long-term results. Graefes Arch. Clin. Exp. Ophthalmol., 2004, 242, 638-647.
136. Bagley, R.G.; Kurtzberg, L.; Weber, W.; Nguyen, T.H.; Roth, S.; Krumbholz, R.; Yao, M.; Richards, B.; Zhang, M.; Pechan, P.; Schmid, S.; Scaria, A.; Kaplan, J.; Teicher, B.A. sFLT01: a novel fusion protein with antiangiogenic activity. Mol. Cancer Ther., 2011, 10, 404-15.
137. Singh, S.R.; Grossniklaus, H.E.; Kang, S.J.; Edelhauser, H.F.; Ambati, B.;, Kompella, U.B. Intravenous transferrin, RGD peptide and dual-targeted nanoparticles enhance anti-VEGF intraceptor gene delivery to laser-induced CNV. Gene Therapy, 2009, 16, 645-59.
138. Tuo, J.; Pang, J.J.; Cao, X.; Shen, D.; Zhang, J.; Scaria, A.; Wadsworth, S.C.; Pechan, P.; Boye, S.L.; Hauswirth, W, W,; Chan, C.C. AAV5-mediated sFLT01 gene therapy arrests retinal lesions in Ccl2(-/-)/Cx3cr1(-/-) mice. Neurobiol. Aging, 2012, 33, 433. e1-10.
139. Murakami, Y.; Ikeda, Y.; Yonemitsu, Y.; Miyazaki, M.; Inoue, M.; Hasegawa, M.; Sueishi, K.; Ishibashi, T. Inhibition of choroidal neovascularization via brief subretinal exposure to a newly developed lentiviral vector pseudotyped with Sendai viral envelope proteins. Hum Gene Ther., 2010, 21, 199-209.
140. Campochiaro, P.A.; Nguyen, Q.D.; Shah, S.M.; Klein, M.; Holz, E.; Frank, R.N.; Saperstein, D.A.; Gupta, A.; Stout, J.T.; Macko, J.; DiBartolomeo, R.; Wei, L.L. Adenoviral vector-delivered pigment epithelium-derived factor for neovascular age-related macular degeneration: results of a phase I clinical trial. Hum. Gene Ther., 2006, 17, 167-176.
141. Hartman, Z.C.; Black, E.P.; Amalfitano, A. Adenoviral infection induces a multi-faceted innate cellular immune response that is mediated by the toll-like receptor pathway in A549 cells. Virology, 2007, 358, 357-372.
142. Yoshioka, Y.; Abe, T.; Wakusawa, R.; Moriya, T.; Mochizuki, S.; Saigo, Y.; Saito, T.; Murata, H.; Tokita, Y.; Iseya, T.; Sugano, E.; Tomita, H.; Sagara, Y.; Tamai, M. Recombinant AAV-transduced iris pigment epithelial cell transplantation may transfer vector to native RPE but suppress systemic dissemination. Invest. Ophthalmol. Vis. Sci., 2006, 47, 745-752.
143. Ginn, S.; Liao, S.; Dane, A.P.; Hu, M,; Hyman, J.; Finnie, J.W.; Zheng, M.; Cavazzana-Calvo, M.; Alexander, S.I.; Thrasher, A.J.; Alexander, I.E. Lymphomagenesis in SCID-X1 mice following lentivirus-mediated phenotype correction independent of insertional mutagenesis and gamma overexpression. Mol. Therapy, 2010, 18, 965-976.
144. Butterwick, A.; Vankov, A.; Huie, P.; Freyvert, Y.; Palanker, D. Tissue damage by pulsed electrical stimulation. EEE Trans. Biomed. Eng., 2007, 54, 2261-2267.
145. Kachi, S.; Oshima, Y.; Esumi, N.; Kachi, M.; Rogers, B.; Zack, D.J.; Campochiaro, P.A. Nonviral ocular gene transfer. Gene Therapy, 2005, 12, 843-51.
146. Ivics. Z.; Hackett, P.B.; Plasterk, R.H.; Izsvak, Z. "Molecular reconstruction of Sleeping Beauty, a Tc1-like transposon from fish, and its transposition in human cells". Cell, 1997, 91, 501-10.
147. Zayed, H.; Izsvak, Z.; Walisko, O.; Ivics, Z. Development of hyperactive sleeping beauty transposon vectors by mutational analysis. Mol. Therapy, 2004, 9, 292-304.
148. Mates, L.; Chuah, M.K.; Belay, E.; Jerchow, B.; Manoj, N.; Acosta-Sanchez, A.; Grzela, D.P.; Schmitt, A.; Becker, K.; Matrai, J.; Ma, L.; Samara-Kuko, E.; Gysemans, C.; Pryputniewicz. D.; Miskey, C.; Fletcher, B.; VandenDriessche, T.; Ivics, Z.; Izsvák, Z. Molecular evolution of a novel hyperactive Sleeping Beauty transposase enables robust stable gene transfer in vertebrates. Nat Genet., 2009, 41, 753-761.
149. Izsvak, Z.; Chuah, M.K.; VandenDriessche, T.; Ivics, Z. Efficient stable gene transfer into human cells by the Sleeping Beauty transposon vectors. Methods, 2009, 49, 287-297.
150. Belay, E.; Dastidar, S.; VandenDriessche, T.; Chuah, M.K. Transposon-Mediated Gene Transfer into Adult and Induced Pluripotent Stem Cells. Curr. Gene Ther., 2011, 11, 406-413.
151. Belay, E.; Matrai, J.; Acosta-Sanchez, A.; Ma, L.; Quattrocelli, M.; Mates, L.; Sancho-Bru, P.; Geraerts, M.; Yan, B.; Vermeesch, J.; Rincón, MY.; Samara-Kuko, E.; Ivics, Z.; Verfaillie, C.; Sampaolesi, M.; Izsvák, Z.; Vandendriessche, T.; Chuah, M.K. Novel hyperactive transposons for genetic modification of induced pluripotent and adult stem cells: a nonviral paradigm for coaxed differentiation. Stem Cells, 2010, 28, 1760-1771.
152. Izsvák, Z.; Hackett, P.B.; Cooper, L.J.; Ivics, Z. Translating Sleeping Beauty transposition into cellular therapies: victories and challenges. Bioessays, 2010, 32, 756-767.
153. Liu, G.; Geurts, A.M.; Yae, K.; Srinivasan, A.R.; Fahrenkrug, S.C.; Largaespada, D.A.; Takeda, J.; Horie, K.; Olson, W.K.; Hackett, P.B. Target-site preferences of Sleeping Beauty transposons. J. Mol. Biol., 2005, 346, 161-73.
154. Yant, S.R.; Wu, X.; Huang, Y.; Garrison, B.; Burgess, S.M.; Kay, M.A. High-resolution genome-wide mapping of transposon integration in mammals. Mol. Cell Biol., 2005, 25, 2085-94.
155. Seiler, M.J.; Rao, B.; Aramant, R.B.; Yu, L.; Wang, Q.; Kitayama, E.; Pham, S.; Yan, F.; Chen, Z.; Keirstead, H.S. Three-dimensional Optical Coherence Tomagraphy Imaging of Retinal Sheet Implants in Live Rats. J. Neurisci. Methods, 2010, 188, 250-257.
156. Gouras, P.; Kong, J.; Tsang, S.H. Retinal degeneration and RPE transplantation in Rpe65(-/-) mice. Invest. Ophthalmol. Vis. Sci., 2002, 43, 3307-3311.
157. Wang, S.; Lu, B.; Wood, P.; Lund, R. D Grafting of ARPE-19 and Schwann cells to the subretinal space in RCS rats. Invest. Ophthalmol. Vis. Sci., 2005, 46, 2552-2560.
158. Wang, S.; Lu, B.; Girman, S.; Holmes, T.; Bischoff, N.; Lund. R.D. Morphological and functional rescue in RCS rats after RPE cell line transplantation at a later stage of degeneration. Invest. Ophthalmol. Vis. Sci., 2008, 49, 16-21.
159. Carr, A.J.; Vugler, A.A.; Hikita, S.T.; Lawrence, J.M.; Gias, C.; Chen, L.L.; Buchholz, D.E.; Ahmado, A.; Semo, M.; Smart, M.J.; Hasan, S.; da Cruz, L.; Johnson, L.V.; Clegg, D.O.; Coffey, P.J. Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat. PLoS One, 2009, 4, e8152
160. Binder, S.; Stanzel, B.V.; Krebs, I.; Glittenberg. C. Transplantation of the RPE in AMD. Prog. Retinal Eye Res, 2006, 26, 516-554.
161. Falkner-Radler, C.I.; Krebs, I.; Glittenberg, C.; Povazay, B.; Drexler, W.; Graf, A.; Binder, S. Human retinal pigment epithelium (RPE) transplantation: outcome after autologous RPE-choroid sheet and RPE cell-suspension in a randomised clinical study. Br. J. Ophthalmol., 2011, 95, 370-375.
162. Arnhold, S.; Semkova, I.; Andressen, C.; Lenartz, D.; Meissner, G.; Sturm, V.; Kochanek, S.; Addicks, K.; Schraermeyer. U. Iris pigment epithelial cells: a possible cell source for the future treatment of neurodegenerative diseases. Exp. Neurol., 2004, 187, 410-417.
163. Thumann, G.; Bartz-Schmidt, K.U.; Heimann, K.; Schraermeyer, U. Phagocytosis of rod outer segments by human iris pigment epithelial cells in vitro. Graefes Arch. Clin. Exp. Ophthalmol., 1998, 236, 753-757.
164. Abe, T.; Tomita, H.; Ohashi, T.; Yamada, K.; Takeda, Y.; Akaishi, K.; Yoshida, M.; Sato, M.; Tamai, M. Characterization of iris pigment epithelial cell for auto cell transplantation. Cell Transplant., 1999, 8, 501-510.
165. Thumann, G.; Kociok, N.; Bartz-Schmidt, K.U.; Esser, P.; Schraermeyer, U.; Heimann. K. Detection of mRNA for proteins involved in retinol metabolism in iris pigment epithelium. Graefes Arch. Clin. Exp. Ophthalmol., 1999, 237, 1046-1051.
166. Kociok, N.; Heppekausen, H.; Schraermeyer, U.; Esser, P.; Thumann, G.; Grisanti, S.; Heimann, K. The mRNA expression of cytokines and their receptors in cultured iris pigment epithelial cells: a comparison with retinal pigment epithelial cells. Exp. Eye Res., 1998, 67, 237-250.
167. Crafoord, S.; Geng, L.; Seregard, S.; Algvere, P.V. Photoreceptor survival in transplantation of autologous iris pigment epithelial cells to the subretinal space. Acta Ophthalmol. Scand., 2002, 80, 387-394.
168. Thumann, G.; Bartz-Schmidt, K.U.; El Bakri, H.; Schraermeyer. U.; Spee, C.; Cui, J.;, Hinton, D.R.; Ryan, S.J.; Heimann, K. Transplantation of autologous iris pigment epithelium to the subretinal space in rabbits. Transplantation, 1999, 68, 195-201.
169. Thumann, G.; Salz, A.K.; Walter, P.; Johnen. S. Preservation of photoreceptors in dystrophic RCS rats following allo-and xenotransplantation of IPE cells. Graefes Arch. Clin. Exp. Ophthalmol., 2009, 247, 363-369.
170. Thomson, H.A.; Treharne, A.J.; Backholer, L.S.; Cuda, F.; Grossel, M.C.; Lotery, A.J. Biodegradable poly(α-hydroxy ester) blended microspheres as suitable carriers for retinal pigment epithelium cell transplantation. J. Biomed. Mater. Res. A, 2010, 95, 1233-1243.
171. Tezcaner, A.; Hicks. D. In vitro characterization of micropatterned PLGA-PHBV8 blend films as temporary scaffolds for photoreceptor cells. J. Biomed. Mater. Res. A, 2008, 86, 170-181.
172. Thumann, G.; Viethen, A.; Gaebler, A.; Walter, P.; Kaempf. S.;, Johnen, S.; Salz, A.K. The in vitro and in vivo behaviour of retinal pigment epithelial cells cultured on ultrathin collagen membranes. Biomaterials, 2009, 30, 287-294.
173. Thumann, G.; Hueber, A.; Dinslage, S.; Schaefer, F.; Yasukawa, T.; Kirchhof, B.; Yafai, Y.; Eichler, W.; Bringmann, A.; Wiedemann, P. Characteristics of Iris and Retinal Pigment Epithelial cells cultured on collagen type I membranes. Curr. Eye Res., 2006, 31, 241-249.
174. Lee, C.J.; Fishman, H.A.; Bent, S.F. Spatial cues for the enhancement of retinal pigment epithelial cell function in potential transplants. Biomaterials, 2007, 28, 2192-2201.
175. Eurell, T.E.; Brown, D.R.; Gerding, P.A.; Hamor, R.E. Alginate as a new biomaterial for the growth of porcine retinal pigment epithelium. Vet. Ophthalmol., 2003, 6, 237-243.
176. Ohno-Matsui, K.; Mori, K.; Ichinose, S.; Sato, T.; Wang, J.; Shimada., N.; Kojima, A.; Mochizuki, M.; Morita, I. In vitro and in vivo characterization of iris pigment epithelial cells cultured on amniotic membranes. Mol. Vision, 2006, 12, 1022-1032.
177. Singh, M.S.; MacLaren, R.E. Stem cells as a therapeutic tool for the blind: biology and future prospects. Proc. Biol. Sci., 2011, 278, 3009-3016.
178. Klimanskaya, I.; Hipp, J.; Rezai, K.A.; West, M.; Atala, A.; Lanza, R. Derivation and comparative assessment of retinal pigment epithelium from human embryonic stem cells using transcriptomics. Cloning Stem Cells, 2004, 6, 217-245.
179. Lund, R.D.; Wang, S.; Klimanskaya, I.; Holmes, T.; Ramos-Kelsey, R.; Lu, B.; Girman, S.; Bischoff, N.; Sauvé, Y.; Lanza, R. Human embryonic stem cell-derived cells rescue visual function in dystrophic RCS rats. Cloning Stem Cells, 2006, 8, 189-199.
180. Huang, Y.; Enzmann, V.; Ildstad, S.T. Stem cell-based therapeutic applications in retinal degenerative diseases. Stem Cell Rev., 2011, 7, 434-445.
181. Wang, N.K.; Tosi, J.; Kasanuki, J.M.; Chou, C.L.; Kong, J.; Parmalee, N.; Wert, K.J.; Allikmets, R.; Lai, C.C.; Chien, C.L.; Nagasaki, T.; Lin, C.S.; Tsang, S.H. Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa. Transplantation, 2010, 89, 911-919.
182. Johnen, S.; Stickelmann, C.; Stocker, M.; Izsvak, Z.; Walter, P.; Thumann, G. Sleeping Beauty-based non viral transfer of PEDF into primary pigment epithelial cells: a method yielding high transfection efficiencies and long term expression. Invest. Ophthalmol. Vis. Sci., 2011, 52, 4379 (Abstract).
183. Djalali-Talab, Y.; Kazanskaya, O.; Johnen, S.; Koutsonas, A.; Armogan, N.; Walter, P.; Thumann, G. Gene therapy of a CNV rodent model using non-virally stably transfected RPE cells with the PEDF gene. Invest. Ophthalmol. Vis. Sci., 2011, 52, 4380 (Abstract).
184. MacLaren, R.E.; Pearson, R.A.; MacNeil, A.; Douglas, R.H.; Salt, T.E.; Akimoto, M.; Swaroop, A.; Sowden, J.C.; Ali, R.R. Retinal repair by transplantation of photoreceptor precursors. Nature, 2006, 444, 203-207.
185. Lamba, D.A.; Karl, M.O.; Ware, C.B.; Reh, T.A. Efficient generation of retinal progenitor cells from human embryonic stem cells. Proc. Natl. Acad. Sci. U. S. A., 2006, 103, 12769-12774.
186. Osakada, F.; Ikeda, H.; Mandai, M.; Wataya, T.; Watanabe, K.; Yoshimura, N.; Akaike, A.; Sasai, Y.; Takahashi, M. Toward the generation of rod and cone photoreceptors from mouse, monkey and human embryonic stem cells. Nat. Biotechnol., 2008, 26, 215-224.
187. Lamba, D.A.; Gust, J.; Reh. T.A. Transplantation of human embryonic stem cell-derived photoreceptors restores some visual function in Crx-deficient mice. Cell Stem Cell, 2009, 4, 73-79.
188. Li, Y.; Zhao, H.; Lan, F.; Lee, A.; Chen, L.; Lin, C.; Yao, Y.; Li, L. Generation of human-induced pluripotent stem cells from gut mesentery-derived cells by ectopic expression of OCT4/SOX2/NANOG. Cell Reprogram., 2010, 12, 237-247.
189. Okita, K.; Ichisaka, T.; Yamanaka, S. Generation of germlinecompetent induced pluripotent stem cells. Nature, 2007, 448, 313-317.
190. Chen, M.; Chen, Q.; Sun, X.; Shen, W.; Liu, B.; Zhong, X.; Leng, Y.; Li. C.; Zhang, W.; Chai, F.; Huang, B.; Gao, Q.; Xiang, A.; Zhuo, Y.; Ge, J. Generation of retinal ganglion-like cells from reprogrammed mouse fibroblasts. Invest. Ophthalmol. Vis. Sci., 2010, 51, 5970-5978.
191. Parameswaran, S.; Balasubramanian, S.; Babai, N.; Qiu, F.; Eudy, J.D.; Thoreson, W.B.; Ahmad, I. Induced pluripotent stem cells generate both retinal ganglion cells and photoreceptors: therapeutic implications in degenerative changes in glaucoma and age-related macular degeneration. Stem Cells, 2010, 28, 695-703.
192. Du, H.; Lim, S.L.; Grob, S.; Zhang, K. Induced pluripotent stem cell therapies for geographic atrophy of age-related macular degeneration. Semin. Ophthalmol., 2011, 26, 216-224.
193. Lamba, D.A.; McUsic, A.; Hirata, R.; Wang, P.R.; Russell, D.; Reh, T.A. Generation, purification and transplantation of photoreceptors derived from human induced pluripotent stem cells. PLoS One, 2010, 5, e8763.
194. Tucker, B. A,; Park, I.H.; Qi, S.D.; Klassen, H.J.; Jiang, C.; Yao, J.; Redenti, S.; Daley, G.Q.; Young, M.J. Transplantation of adult mouse iPS cell-derived photoreceptor precursors restores retinal structure and function in degenerative mice. PLoS One, 2011, 6, e18992.