BennettJ. (2003). Touching base: mutant of the month. Nat. Genet., 33, 119.
2.
AclandG.M., AguirreG.D., RayJ., et al. (2001). Gene therapy restores vision in a canine model of childhood blindness. Nat. Genet., 28, 92–95.
3.
AclandG.M., AguirreG.D., BennettJ., et al. (2005). 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. Ther., 12, 1072–1082.
4.
AmadoD., MingozziF., HuiD., et al. (2010). Safety and efficacy of subretinal re-administration of an AAV2 vector in large animal models: implications for studies in humans. Sci. Transl. Med., 2, 21ra16.
5.
AndersonW.F., BlaeseR.M., and CulverK. (1990). The ADA human gene therapy clinical protocol: points to consider response with clinical protocol, July 6, 1990. Hum. Gene Ther., 1, 331–362.
6.
AshtariM., CyckowskiL.L., MonroeJ.F., et al. (2011). The human visual cortex responds to gene therapy-mediated recovery of retinal function. J. Clin. Invest., 121, 2160–2168.
7.
BainbridgeJ.W., SmithA.J., BarkerS.S., et al. (2008). Effect of gene therapy on visual function in Leber's congenital amaurosis. N. Engl. J. Med., 358, 2231–2239.
8.
BennettJ., WilsonJ., SunD., et al. (1994). Adenovirus vector-mediated in vivo gene transfer into adult murine retina. Invest. Ophthalmol. Vis. Sci., 35, 2535–2542.
9.
BennettJ., TanabeT., SunD., et al. (1996). Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nat. Med., 2, 649–654.
10.
BennettJ., DuanD., EngelhardtJ.F., and MaguireA.M. (1997). Real-time, noninvasive in vivo assessment of adeno-associated virus-mediated retinal transduction. Invest. Ophthalmol. Vis. Sci., 38, 2857–2863.
11.
BennettJ., MaguireA.M., CideciyanA.V., et al. (1999). Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. Proc. Natl. Acad. Sci. USA, 96, 9920–9925.
12.
BennettJ., AnandV., AclandG.M., and MaguireA.M. (2000). Cross-species comparison of in vivo reporter gene expression after recombinant adeno-associated virus-mediated retinal transduction. Methods Enzymol., 316, 777–789.
13.
BennettJ., AshtariM., WellmanJ., et al. (2012a). AAV2 gene therapy readministration in three adults with congenital blindness. Sci. Transl. Med., 4, 120ra15.
14.
BennettJ., JacobsonS., MaguireA., et al. (2012b). Method of treating or retarding the development of blindness. USA Patent 8,147,823 B2.
15.
BennicelliJ., WrightJ.F., KomaromyA., et al. (2008). Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol. Ther., 16, 458–465.
16.
BoldtK., MansD.A., WonJ., et al. (2011). Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J. Clin. Invest., 121, 2169–2180.
17.
BrinsterR.L., ChenH.Y., TrumbauerM., et al. (1981). Somatic expression of herpes thymidine kinase in mice following injection of a fusion gene into eggs. Cell, 27, 223–231.
18.
CideciyanA.V., AlemanT.S., BoyeS.L., et al. (2008). Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc. Natl. Acad. Sci. USA, 105, 15112–15117.
19.
CideciyanA.V., JacobsonS.G., BeltranW.A., et al. (2013). Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc. Natl. Acad. Sci. USA, 110, E517–E525.
20.
CremersF.P.M., van de PolD.J.R., van KerkhoffL.P.M., et al. (1990). Cloning of a gene that is rearranged in patients with choroideraemia. Nature, 347, 674–677.
21.
DrivasT.G., HolzbaurE.L.F., and BennettJ. (2013). Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. J. Clin. Invest., 123, 4525–4539.
22.
DryjaT.P., McGeeT., ReichelE., et al. (1990). A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature, 343, 364–366.
23.
FarrarG.J., McWilliamP., BradleyD.G., et al. (1990). Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics, 8, 35–40.
24.
GuS.M., ThompsonD.A., SrikumariC.R., et al. (1997). Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet., 17, 194–197.
25.
HighK.A. (2004). Clinical gene transfer studies for hemophilia B. Semin. Thromb. Hemost., 30, 257–267.
26.
JacobsonS., AlemanT., CideciyanA., et al. (2005). Identifying photoreceptors in blind eyes due to RPE65 mutations: prerequisite for human gene therapy success. Proc. Natl. Acad. Sci. USA, 102, 6177–6182.
27.
JacobsonS., AclandG., AguirreG.D., et al. (2006a). Safety of recombinant adeno-associated virus 2-RPE65 vector delivered by ocular subretinal injection. Mol. Ther., 13, 1074–1084.
28.
JacobsonS., BoyeS., AlemanT., et al. (2006b). Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Hum. Gene Ther., 17, 1–44.
29.
JiangH., PierceG.F., OzeloM.C., et al. (2006). Evidence of multiyear factor IX expression by AAV-mediated gene transfer to skeletal muscle in an individual with severe hemophilia B. Mol. Ther., 14, 452–455.
30.
KayM.A., MannoC.S., RagniM.V., et al. (2000). Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector. Nat. Genet., 24, 257–261.
31.
LiT., AdamianM., RoofD.J., et al. (1994). In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector. Invest. Ophthalmol. Vis. Sci., 35, 2543–2549.
32.
MaguireA.M., BennettJ., NickleA., et al. (1995). Adenovirus-mediated gene transfer to canine retinal photoreceptors: effects of inflammation. Invest. Ophthalmol. Vis. Sci., 36, S777.
33.
MaguireA.M., SimonelliF., PierceE.A., et al. (2008). Safety and efficacy of gene transfer for Leber's congenital amaurosis. N. Engl. J. Med., 358, 2240–2248.
34.
MaguireA.M., HighK.A., AuricchioA., et al. (2009). Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet, 374, 1597–1605.
35.
MarlhensF., BareilC., FriffoinJ.-M., et al. (1997). Mutations in RPE65 cause Leber's congenital amaurosis. Nat. Genet., 17, 139–141.
36.
MorimuraH., FishmanG.A., GroverS., et al. (1998). Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc. Natl. Acad. Sci. USA, 95, 3088–3093.
37.
PalmiterR.D., BrinsterR.L., HammerR.E., et al. (1982). Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. Nature, 300, 611–615.
38.
RetNet. Available at www.sph.uth.tmc.edu/RetNet (accessed on June20, 2014).
39.
VasireddyV., MillsJ.A., GaddameediR., et al. (2013). AAV-mediated gene therapy for choroideremia: preclinical studies in personalized models. PLoS One, 8, e61396.
40.
WadeN. (1999). Patient dies while undergoing gene therapy. New York Times, Sept.29.
41.
WojnoA.P., PierceE.A., and BennettJ. (2013). Seeing the light. Sci. Transl. Med., 5, 175fs8.
42.
Spark Therapeutics LLC. (2014) Safety and efficacy study in subjects with Leber Congenital Amaurosis. In: Clinical Trials.gov[Internet]. Available from http://clinicaltrials.gov/show/NCT00999609.
43.
U.S. Recombinant DNA Advisory Committee (RAC). Human Gene Transfer Protocol #0510-740 (2005 ). A Phase I Safety Study in Subjects with Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 into the Retinal Pigment Epithelium (RPE) (RAC, Bethesda, MD). Available at www.webconferences.com/nihoba/13_dec_2005.html
44.
ZackD.J., BennettJ., WangY., et al. (1991). Unusual topography of bovine rhodopsin promoter-lacZ fusion gene expression in transgenic mouse retinas. Neuron, 6, 187–199.