Improvement in vision: a new goal for treatment of hereditary retinal degenerations

Bibliography

• ANBramall, AFWright, SGJacobson, RRMcInnes. The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders. Annu Rev Neurosci 2010;33:441-72
   PubMed Web of Science ®Google Scholar
• AFWright, CFChakarova, MMAbd El-Aziz, SSBhattacharya. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet 2010;11:273-84
   PubMed Web of Science ®Google Scholar
• CPHamel. Gene discovery and prevalence in inherited retinal dystrophies. C R Biol 2014;337:160-6
   Google Scholar
• ELBerson. Nutrition and retinal degenerations. Int Ophthalmol Clin 2000;40:93-111
   Google Scholar
• DRHoffman, KGLocke, DHWheaton, et al. A randomized, placebo-controlled clinical trial of docosahexaenoic acid supplementation for X-linked retinitis pigmentosa. Am J Ophthalmol 2004;137:704-18
   PubMed Web of Science ®Google Scholar
• RetNet: retinal Information Network. Daiger SP and the University of Texas Health Science Center. RetNet, Houston, TX; 2014. Available from: https://sph.uth.edu/retnet/ [Last accessed 10 December 2014]
   Google Scholar
• AVCideciyan. Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res 2010;29:398-427
   PubMed Web of Science ®Google Scholar
• PColella, AAuricchio. Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients. Hum Gen Ther 2012;23:796-807
   Web of Science ®Google Scholar
• RBHufnagel, ZMAhmed, ZMCorrea, RASisk. Gene therapy for Leber congenital amaurosis: advances and future directions. Graefes Arch Clin Exp Ophthalmol 2012;250:1117-28
   Google Scholar
• SEBoye, SLBoye, ASLewin, WWHauswirth. A comprehensive review of retinal gene therapy. Mol Ther 2013;3:509-19
   Google Scholar
• LSCarvalho, LHVandenberghe. Promising and delivering gene therapies for vision loss. Vision Res 2014;10.1016/j.visres.2014.07.013
   Google Scholar
• EAPierce, JBennett. The status of RPE65 gene therapy trials: safety and efficacy. CSH Perspect Med 2015;10.1101/cshperspect.a017285
   Google Scholar
• DAThompson, RRAli, EBanin, et al. Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano symposium. Invest Ophthalmol Vis Sci 2015;56:918-31
   Google Scholar
• JCSaari. Biochemistry of visual pigment regeneration: the Friedenwald lecture. Invest Ophthalmol Vis Sci 2000;41:337-48
   PubMed Web of Science ®Google Scholar
• GHTravis, MGolczak, RMoise, KPalczewski. Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents. Annu Rev Pharmacol Toxicol 2007;47:469-512
   PubMed Web of Science ®Google Scholar
• KPalczewski. Retinoids for treatment of retinal diseases. Trends Pharmacol Sci 2010;31:289-95
   Google Scholar
• PHTang, MKono, YKoutalos, et al. New insights into retinoid metabolism and cycling within the retina. Prog Retin Eye Res 2013;23:48-63
   Google Scholar
• KPalczewski. Chemistry and biology of the initial steps in vision: the Friedenwald Lecture. Invest Ophthalmol Vis Sci 2014;55:6651-72
   Google Scholar
• SGJacobson, TSAleman, AVCideciyan, et al. Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success. Proc Natl Acad Sci USA 2005;102:6177-82
   PubMed Web of Science ®Google Scholar
• SGJacobson, TSAleman, AVCideciyan, et al. Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci USA 2007;104:15123-8
   PubMed Web of Science ®Google Scholar
• SGJacobson, AVCideciyan, TSAleman, et al. Photoreceptor layer topography in children with Leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci 2008;49:4573-7
   PubMed Web of Science ®Google Scholar
• SGJacobson, TSAleman, AVCideciyan, et al. Defining the residual vision in Leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci 2009;50:2368-75
   PubMedGoogle Scholar
• NLMata, RARadu, RCClemmons, GHTravis. Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight. Neuron 2002;36:69-80
   PubMed Web of Science ®Google Scholar
• JJKaylor, QYuan, JCook, et al. Identification of DES1 as a vitamin A isomerase in Muller glial cells of the retina. Nat Chem Biol 2013;9:30-6
   PubMed Web of Science ®Google Scholar
• YXue, SQShen, JJui, et al. CRALBP supports the mammalian retinal visual cycle and cone vision. J Clin Invest 2015;125:727-38
   PubMed Web of Science ®Google Scholar
• JPVan Hooser, TSAleman, YGHe, et al. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci USA 2000;97:8623-8
   PubMed Web of Science ®Google Scholar
• JPVan Hooser, YLiang, TMaeda, et al. Recovery of visual functions in a mouse model of Leber congenital amaurosis. J Biol Chem 2002;277:19173-82
   PubMed Web of Science ®Google Scholar
• ZAblonczy, RKCrouch, PWGoletz, et al. 11-cis-retinal reduces constitutive opsin phosphorylation and improves quantum catch in retinoid-deficient mouse rod photoreceptors. J Biol Chem 2002;277:40491-8
   PubMed Web of Science ®Google Scholar
• TMaeda, AMaeda, GCasadesus, et al. Evaluation of 9-cis-retinyl acetate therapy in Rpe65-/- mice. Invest Ophthalmol Vis Sci 2009;50:4368-78
   PubMed Web of Science ®Google Scholar
• TMaeda, AVCideciyan, AMaeda, et al. Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate. Hum Mol Genet 2009;18:2277-87
   PubMed Web of Science ®Google Scholar
• PMGearhart, CGearhart, DAThompson, SMPetersen-Jones. Improvement of visual performance with intravitreal administration of 9-cis-retinal in Rpe65-mutant dogs. Arch Ophthalmol 2010;128:1442-8
   PubMedGoogle Scholar
• AMaeda, KPalczewski. Retinal degeneration in animal models with a defective visual cycle. Drug Discov Tod Dis Models 2013;10:e163-72
   Google Scholar
• YImanishi, MLBatten, DWPiston, et al. Noninvasive two-photon imaging reveals retinyl ester storage structures in the eye. J Cell Biol 2004;164:373-83
   Google Scholar
• TOrban, GPalczewska, KPalczewski. Retinyl ester storage particles (retinosomes) from the retinal pigmented epithelium resemble lipid droplets in other tissues. J Biol Chem 2011;283:17248-58
   Google Scholar
• RHubbard, GWald. Cis-trans isomers of vitamin A and retinene in the rhodopsin system. J Gen Physiol 1952;36:269-315
   PubMed Web of Science ®Google Scholar
• JFan, BRohrer, GMoiseyev, et al. Isorhodopsin rather than rhodopsin mediates rod function in RPE65 knock-out mice. Proc Natl Acad Sci USA 2003;100:13662-7
   PubMed Web of Science ®Google Scholar
• KPalczewski. G protein-coupled receptor rhodopsin. Annu Rev Biochem 2006;75:743-67
   PubMed Web of Science ®Google Scholar
• GMAcland, GDAguirre, JRay, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001;28:92-5
   PubMed Web of Science ®Google Scholar
• GMAcland, GDAguirre, JBennett, 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. Mol Ther 2005;12:1072-82
   PubMed Web of Science ®Google Scholar
• GKAguirre, AMKomáromy, AVCideciyan, et al. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Med 2007;4:e230
   PubMed Web of Science ®Google Scholar
• RCCaruso, TSAleman, AVCideciyan, et al. Retinal disease in Rpe65-deficient mice: comparison to human Leber congenital amaurosis due to RPE65 mutations. Invest Ophthalmol Vis Sci 2010;51:5304-13
   Google Scholar
• AVCideciyan, SGJacobson, WABeltran, et al. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci USA 2013;110:E517-25
   PubMed Web of Science ®Google Scholar
• JWBainbridge, AJSmith, SSBarker, et al. Effect of gene therapy on visual function in Leber’s congenital amaurosis. N Engl J Med 2008;358:2231-9
   PubMed Web of Science ®Google Scholar
• AMMaguire, FSimonelli, EAPierce, et al. Safety and efficacy of gene transfer for Leber’s congenital amaurosis. N Engl J Med 2008;358:2240-8
   PubMed Web of Science ®Google Scholar
• WWHauswirth, TSAleman, SKaushal, 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. Hum Gene Ther 2008;19:979-90
   PubMed Web of Science ®Google Scholar
• AVCideciyan, TSAleman, SLBoye, et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci USA 2008;105:15112-17
   PubMed Web of Science ®Google Scholar
• EBanin, DBandah-Rozenfeld, AObolensky, et al. Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. Hum Gene Ther 2010;21:1749-57
   PubMed Web of Science ®Google Scholar
• SGJacobson, AVCideciyan, RRatnakaram. 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
   PubMed Web of Science ®Google Scholar
• AVCideciyan, WWHauswirth, TSAleman, et al. Vision 1 year after gene therapy for Leber’s congenital amaurosis. N Engl J Med 2009;361:725-7
   PubMed Web of Science ®Google Scholar
• AVCideciyan, GKAguirre, SGJacobson, et al. Pseudo-fovea formation after gene therapy for RPE65-LCA. Invest Ophthalmol Vis Sci 2014;56:526-37
   Google Scholar
• RKKoenekoop, SRufang, JSallum, et al. Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. Lancet 2014;384:1513-20
   PubMed Web of Science ®Google Scholar
• AVCideciyan, ATMoore, EZrenner, et al. Increased vision within days of oral cis-retinoid (QLT091001) treatment in blindness due to mutations in retinal pigment epithelium-specific protein 65kDa (RPE65) or lecithin retinol acyltransferase (LRAT). ARVO Meeting Abstract 2012;53:6965
   Google Scholar
• TMRedmond, EPoliakov, SYu, et al. Mutation of key residues of Rpe65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc Natl Acad Sci USA 2005;102:13658-63
   PubMed Web of Science ®Google Scholar
• ARPhilp, MJin, SLi, et al. Predicting the pathogenicity of RPE65 mutations. Hum Mutat 2009;30:1183-8
   Google Scholar
• SLi, TIzumi, JHu, et al. Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites. J Biol Chem 2014;289:18943-56
   Google Scholar
• AJRoman, SBSchwartz, TSAleman, et al. Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Exp Eye Res 2005;80:259-72
   PubMed Web of Science ®Google Scholar
• AJRoman, AVCideciyan, TSAleman, et al. Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. Physiol Meas 2007;25:N51-6
   Google Scholar
• BKEdwards, EWard, BAKohler, et al. Annual report to the nation on the status of cancer, 1975-2006, featuring colorectal cancer trends and impact of interventions (risk factors, screening, and treatment) to reduce future rates. Cancer 2010;116:544-73
   PubMed Web of Science ®Google Scholar
• MVBlagosklonny. NCI’s provocative questions on cancer: some answers to ignite discussion. Oncotarget 2011;2:1352-67
   Google Scholar
• JBennett, MAshtari, JWellman, et al. AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med 2012;4:120ra15
   PubMed Web of Science ®Google Scholar
• ZHan, SMConley, RMakkia, et al. Comparative analysis of DNA nanoparticles and AAVs for ocular gene delivery. PLoS One 2012;7:e52189
   PubMed Web of Science ®Google Scholar
• AKoirala, RSMakkia, SMConley, et al. S/MAR-containing DNA nanoparticles promote persistent RPE gene expression and improvement in RPE65-associated LCA. Hum Mol Genet 2013;22:1632-42
   PubMed Web of Science ®Google Scholar
• AKoirala, SMConley, RMakkia, et al. Persistence of non-viral vector mediated RPE65 expression: case for viability as a gene transfer therapy for RPE-based diseases. J Control Release 2013;172:745-52
   PubMed Web of Science ®Google Scholar
• SGJacobson, AVCideciyan. Treatment possibilities for retinitis pigmentosa. N Eng J Med 2010;363:1669-71
   Google Scholar
• GJChader, JWeiland, MSHumayun. Artificial vision: needs, functioning, and testing of a retinal electronic prosthesis. Prog Brain Res 2009;175:317-32
   PubMed Web of Science ®Google Scholar
• JDWeiland, AKCho, MSHumayun. Retinal prostheses: current clinical results and future needs. Ophthalmology 2011;118:2227-37
   PubMed Web of Science ®Google Scholar
• JFRizzoIII, DBShire, SKKelly, et al. Overview of the boston retinal prosthesis: challenges and opportunities to restore useful vision to the blind. Cong Proc IEEE Eng Med Biol Soc 2011;2011:7492-5
   PubMedGoogle Scholar
• SJGarg, JFederman. Optogenetics, visual prosthesis and electrostimulation for retinal dystrophies. Curr Opin Ophthalmol 2013;24:407-14
   PubMed Web of Science ®Google Scholar
• SPicaud, J-ASahel. Retinal prostheses: clinical results and future challenges. C R Biol 2014;337:214-22
   Google Scholar
• LFenno, OYizhar, KDeisseroth. The development and application of optogenetics. Annu Rev Neurosci 2011;34:389-412
   PubMed Web of Science ®Google Scholar
• SNirenberg, CPandarinath. Retinal prosthetic strategy with the capacity to restore normal vision. Proc Natl Acad Sci USA 2012;109:15012-17
   PubMed Web of Science ®Google Scholar
• SGJacobson, ASumaroka, KLuo, AVCideciyan. Retinal optogenetic therapies: clinical criteria for candidacy. Clin Genet 2013;84:175-82
   Google Scholar
• BMGaub, MHBerry, AEHolt, et al. Restoration of visual function by expression of a light-gated mammalian ion channel in retinal ganglion cells or ON-bipolar cells. Proc Natl Acad Sci USA 2014;111(51):E5574-83
   PubMedGoogle Scholar
• SDSchwartz, CDRegillo, BLLam, et al. Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt’s macular dystrophy: follow-up of two open-label phase 1/2 studies. Lancet 2015;385(9967):509-16
   PubMed Web of Science ®Google Scholar
• LAWiley, ERBurnight, AESongstad, et al. Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases. Prog Retin Eye Res 2015;44:15-35
   PubMed Web of Science ®Google Scholar
• LFPorter, GCMBlack. Personalized ophthalmology. Clin Genet 2014;86:1-11
   Google Scholar
• UAMeyer. Personalized medicine: a personal view. Clin Pharmacol Ther 2012;91:373-5
   Google Scholar
• EMStone. Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc 2003;101:437-84
   PubMedGoogle Scholar
• BPBrooks, IMMacdonald, SJTumminia, et al. National Ophthalmic Disease Genotyping Network (eyeGENE). Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Arch Ophthalmol 2008;126:424-5
   Google Scholar
• CZeitz, AGRobson, IAudo. Congenital stationary night blindness: An analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res 2015;45C:58-110
   Google Scholar