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  • AclandGM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. 2001. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 28:9295.
  • Baas D, Bumsted KM, Martinez JA, Vaccarino FM, Wikler KC, Barnstable CJ. 2000. The subcellular localization of Otx2 is cell-type specific and developmentally regulated in the mouse retina. Brain Res Mol Brain Res 78:2637.
  • Bennicelli J, Wright JF, Komaromy A, Jacobs JB, Hauck B, Zelenaia O, Mingozzi F, Hui D, Chung D, Rex TS, Wei Z, Qu G, Zhou S, Zeiss C, Arruda VR, Acland GM, Dell'Osso LF, High KA, Maguire AM, Bennett J. 2008. Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol Ther 16:458465.
  • Berger W, Kloeckener-Gruissem B, Neidhardt J. 2010. The molecular basis of human retinal and vitreoretinal diseases. Prog Retinal Eye Res 29:335375.
  • Blackshaw S, Fraioli RE, Furukawa T, Cepko CL. 2001. Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes. Cell 107:579589.
  • Boatright JH, Borst DE, Peoples JW, Bruno J Edwards CL, Si JS, Nickerson JM. 1997. A major cis activator of the IRBP gene contains CRX-binding and Ret-1/PCE-I elements. Mol Vis 22:15.
  • Bobola N, Briata P, Ilengo C, Rosatto N, Craft C, Corte G, Ravazzolo R. 1999. OTX2 homeodomain protein binds a DNA element necessary for interphotoreceptor retinoid binding protein gene expression. Mech Dev 82:165169.
  • Bovolenta P, Mallamaci A, Briata P, Corte G, Boncinelli E. 1997. Implication of OTX2 in pigment epithelium determination and neural retina differentiation. J Neurosci 17:42434252.
  • Boye SE, Boye SL, Pang J, Ryals R, Everhart D, Umino Y, Neeley AW, Besharse J, Barlow R, Hauswirth WW. 2010. Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. PLoS One 5:e11306.
  • Chau, KY, Chen, S, Zack, DJ, Ono, SJ. 2000. Functional domains of the cone-rod homeobox (CRX) transcription factor. J Biol Chem 275:3726437270.
  • Chen J, Rattner A, Nathans J. 2005. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. J Neurosci 25:118129.
  • Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins Na, Zack DJ. 1997. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron 19:10171030.
  • Chen S, Wang Q-L, Xu S, Liu I, Li LY, Wang Y, Zack DJ. 2002. Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. Hum Mol Genet 11:873884.
  • Chen Y, Zhang Q, Shen T, Xiao X, Li S, Guan L, Zhang J, Zhu Z, Yin Y, Wang P, Guo X, Wang J, Zhang Q. 2013. Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 54:43514357.
  • Cheng H, Khanna H, Oh ECT, Hicks D, Mitton KP, Swaroop A. 2004. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet 13:15631575.
  • Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobson SG, Swaroop A. 2006. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum Mol Genet 15:25882602.
  • Chong NH, Alexander RA, Barnett KC, Bird AC, Luthert PJ. 1999. An immunohistochemical study of an autosomal dominant feline rod/cone dysplasia (Rdy cats). Exp Eye Res 68:5157.
  • Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang J-J, Sumaroka A, Windsor EaM, Wilson JM, Flotte TR, Fishman Ga, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW. 2008. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci USA 105:1511215117.
  • Colella P, Auricchio A. 2012. Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients. Hum Gene Ther 23:796807.
  • Corbo JC, Lawrence KA, Karlstetter M, Myers CA, Abdelaziz M, Dirkes W, Weigelt K, Seifert M, Benes V, Fritsche LG, Weber BHF, Langmann T. 2010. CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors. Genome Res 20:15121525.
  • Curtis R, Barnett KC, Leon A. 1987. An early-onset retinal Dystrophy with dominant inheritance in the Abyssinian Cat. Invest Ophthalmol Vis Sci 28:131139.
  • Daniele LL, Lillo C, Lyubarsky AL, Nikonov SS, Philp N, Mears AJ, Swaroop A, Williams DS, Pugh EN. 2005. Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Invest. Ophthalmol Vis Sci 46:21562167.
  • den Hollander AI, Roepman R, Koenekoop RK, Cremers FPM. 2008. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 27:391419.
  • Dharmaraj SR, Silva ER, Pina aL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. 2000. Mutational analysis and clinical correlation in Leber congenital amaurosis. Ophthalmic Genet 21:135150.
  • Fei Y, Hughes TE. 2000. Nuclear trafficking of photoreceptor protein crx: the targeting sequence and pathologic implications. Invest Ophthalmol Vis Sci 41:28492856.
  • Fei Y, Matragoon S, Smith SB, Overbeek Pa, Chen S, Zack DJ, Liou GI. 1999. Functional dissection of the promoter of the interphotoreceptor retinoid-binding protein gene: the cone-rod-homeobox element is essential for photoreceptor-specific expression in vivo. J Biochem 125:11891199.
  • Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC,Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. 1997. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91:543553.
  • Freund C, Wang QL, Chen S, Muskat B, Wiles C, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone, EM. 1998. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 18:311312.
  • Furukawa T, Morrow EM, Cepko CL. 1997. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 91:531541.
  • Furukawa T, Morrow EM, Li T, Davis FC, Cepko CL. 1999. Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nat Genet 23:466470.
  • Galvin Ja, Fishman Ga, Stone EM, Koenekoop RK. 2005. Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina 25:919929.
  • Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq, D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier J-L, Munnich A, Rozet J-M, Kaplan J. 2004. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 23:306317.
  • Hao H, Kim DS, Klocke B, Johnson KR, Cui K, Gotoh N, Zang C, Gregorski J, Gieser L, Peng W, Fann Y, Seifert M, Zhao K, Swaroop A. 2012. Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis. PLoS Genet 8:e1002649.
  • Hennig AK, Peng GH, Chen S. 2008. Regulation of photoreceptor gene expression by Crx-associated transcription factor network. Brain Res 1192:114133.
  • Hennig AK, Peng G-H, Chen S. 2013. Transcription coactivators p300 and CBP are necessary for photoreceptor-specific chromatin organization and gene expression. PLoS One 8:e69721.
  • Homma K, Okamoto S, Mandai M, Gotoh N, Rajasimha HK, Chang YS, Chen S, Li W, Cogliati T, Swaroop A, Takahashi M. 2013. Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors. Stem Cells 31:11491159.
  • Housset M, Samuel A, Ettaiche M, Bemelmans A, Béby F, Billon N, Lamonerie T. 2013. Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration. J Neurosci 33:98909904.
  • Hsiau TH, Diaconu C, Myers CA, Lee J, Cepko CL, Corbo JC. 2007. The cis-regulatory logic of the mammalian photoreceptor transcriptional network. PLoS One 2:e643.
  • Huang L, Xiao X, Li S, Jia X, Wang P, Guo X, Zhang Q. 2012. CRX variants in cone-rod dystrophy and mutation overview. Biochem Biophys Res Commun 426:498503.
  • Itabashi T, Wada Y, Sato H, Kawamura M, Shiono T, Tamai M. 2004. Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod Dystrophy. Am J Ophthalmol 49:876877.
  • Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR. 1998. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci 39:24172426.
  • Jiang, L, Zhang, H, Dizhoor, AM, Boye, SE, Hauswirth, WW, Frederick, JM, Baehr, W. 2011. Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model. Proc Natl Acad Sci U S A 108: 1847681.
  • Jin Z-B, Mandai M, Yokota T, Higuchi K, Ohmori K, Ohtsuki F, Takakura S, Itabashi T, Wada Y, Akimoto M, Ooto S, Suzuki T, Hirami Y, Ikeda H, Kawagoe N, Oishi a, Ichiyama S, Takahashi M, Yoshimura N, Kosugi S. 2008. Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study. J Med Genet 45:465472.
  • Kimura A, Singh A, Wawrousek EF, Kikuchi M, Nakamura M, Shinohara T. 2000. Both PCE-1/RX and OTX/CRX Interactions are necessary for photoreceptor-specific gene expression. J Biol Chem 275: 11521160.
  • Kitiratschky VBD, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H. 2008. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation. Br J Ophthalmol 92:10861091.
  • Koenekoop RK, Loyer M, Dembinska O, Beneish R. 2002. Mutation report Visual improvement in Leber congenital amaurosis and the CRX genotype. Ophthalmic Genetics 23:4960.
  • Kwasnieski JC, Mogno I, Myers CA, Corbo JC, Cohen BA. 2012. Complex effects of nucleotide variants in a mammalian cis -regulatory element. Proc Natl Acad Sci USA 109:1949819503.
  • Lamba Da, Gust J, Reh TA. 2009. Transplantation of human embryonic stem cell-derived photoreceptors restores some visual function in Crx-deficient mice. Cell Stem Cell 4:7379.
  • Langmann T, Lai CCL, Weigelt K, Tam BM, Warneke-Wittstock R, Moritz OL, Weber BHF. 2008. CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. Nucleic Acids Res 36:65236534.
  • Leon A, Curtis R. 1990. Autosomal dominant rod-cone dysplasia in the Rdy cat. 1. Light and electron microscopic findings. Exp Eye Res 51:361381.
  • Leon A, Curtis R. 1991. Autosomal dominant Dysplasia findings in the Rdy Cat 2 . Electrophysiological. Exp Eye Res 53:489502.
  • Li L, Xiao X, Li S, Jia X, Wang P, Guo X, Jiao X, Zhang Q, Hejtmancik JF. 2011. Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One 6:e19458.
  • Lines Ma, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM. 2002. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. Ophthalmology 109:18621870.
  • Livesey FJ, Furukawa T, Steffen MA, Church GM, Cepko CL. 2000. Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx. Curr Biol 10:301310.
  • Lotery aJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman Ga, Musarella Ma, Hoyt CS, Héon E, Levin a, Jan J, Lam B, Carr RE, Franklin a, Radha S, Andorf JL, Sheffield VC, Stone EM. 2000. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol 118:538543.
  • Maguire AM, Simonelli F, Pierce EA, Pugh Jr EN, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. 2008. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 358:22402248.
  • Mancuso K, Hauswirth WW, Li Q, Connor TB, Kuchenbecker JA, Mauck MC, Neitz J, Neitz M. 2009. Gene therapy for red-green colour blindness in adult primates. Nature 461:784787.
  • Mears aJ, Kondo M, Swain PK, Takada Y, Bush Ra, Saunders TL, Sieving PA, Swaroop A. 2001. Nrl is required for rod photoreceptor development. Nat Genet 29:447452.
  • Menotti-Raymond M, Deckman KH, David VA, Myrkalo J, O'Brien SJ, Narfstrom K. 2010. Mutation discovered in a feline model of human congenital retinal blinding disease. Invest Ophthalmol Vis Sci 51:28522859.
  • Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A. 2000. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. J Biol Chem 275:2979429799.
  • Morrow EM, Furukawa T, Raviola E, Cepko CL. 2005. Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice. BMC Neurosci 6:5.
  • Nakamura M, Ito S, Miyake Y. 2002. Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. Am J Ophthalmol 134:465467.
  • Nichols LL, Alur RP, Boobalan E, Sergeev YV, Caruso RC, Stone EM, Swaroop A, Johnson Ma, Brooks BP. 2010. Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Hum Mutat 31:E14721483.
  • Nishida A, Furukawa A, Koike C, Tano Y, Aizawa S, Matsuo I, Furukawa T. 2003. Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development. Nat Neurosci 6:12551263.
  • O'Reilly M, Palfi A, Chadderton N, Millington-Ward S, Ader M, Cronin T, Tuohy T, Auricchio A, Hildinger M, Tivnan A, McNally N, Humphries MM, Kiang A-S, Humphries P, Kenna PF, Farrar GJ. 2007. RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet 81:127135.
  • Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B. 2007. Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. Ophthalmology 114:13481357.e1.
  • Peng GH, Chen S. 2005. Chromatin immunoprecipitation identifies photoreceptor transcription factor targets in mouse models of retinal degeneration: new findings and challenges. Vis Neurosci 22:575586.
  • Peng GH, Chen S. 2007. Crx activates opsin transcription by recruiting HAT-containing co-activators and promoting histone acetylation. Hum Mol Genet 16:24332452.
  • Peng GH, Chen S. 2011. Active opsin loci adopt intrachromosomal loops that depend on the photoreceptor transcription factor network. Proc Natl Acad Sci USA 108:1782117826.
  • Peng GH, Ahmad O, Ahmad F, Liu J, Chen S. 2005. The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. Hum Mol Genet 14:747764.
  • Perrault I, Hanein S, Gerber S, Barbet F, Dufier JL, Munnich A, Rozet JM, Kaplan J. 2003. Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. J Med Genet 40:e90.
  • Plouhinec JL, Sauka-Spengler T, Germot A, Le Mentec C, Cabana T, Harrison G, Pieau C, Sire JY, Véron G, Mazan S. 2003. The mammalian Crx genes are highly divergent representatives of the Otx5 gene family, a gnathostome orthology class of orthodenticle-related homeogenes involved in the differentiation of retinal photoreceptors and circadian entrainment. Mol Biol Evol 20:513521.
  • Ranade SS, Yang-Zhou D, Kong SW, McDonald EC, Cook TA, Pignoni F. 2008. Analysis of the Otd-dependent transcriptome supports the evolutionary conservation of CRX/OTX/OTD functions in flies and vertebrates. Dev Biol 315:521534.
  • Rehemtulla a, Warwar R, Kumar R, Ji X, Zack DJ, Swaroop A. 1996. The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression. Proc Natl Acad Sci USA 93:191195.
  • Rivolta C, Berson EL, Dryja TP. 2001. Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Human Mutat 18:488498.
  • Roduit R, Escher P, Schorderet DF. 2009. Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. PLoS One 4:e7379.
  • Roger JE, Hiriyanna A, Gotoh N, Hao H, Cheng DF, Ratnapriya R, Kautzmann MI, Chang B, Swaroop A. 2014. OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. J Clin Invest 124:631643.
  • Rovsing L, Clokie S, Bustos DM, Rohde K, Coon SL, Litman T, Rath MF, Møller M, Klein DC. 2011. Crx broadly modulates the pineal transcriptome. J Neurochem 119:262274.
  • Samuel A, Housset M, Fant B, Lamonerie T. 2014. Otx2 ChIP-seq reveals unique and redundant functions in the mature mouse retina. PLoS One 9:e89110.
  • Sankila EM, Joensuu TH, Hamalainen RH, Raitanen N, Valle O, Ignatius J, Cormand B. 2000. A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy, Hum Mutat 16:94.
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  • Schweingruber C, Rufener SC, Zünd D, Yamashita A, Mühlemann O. 2013. Nonsense-mediated mRNA decay: mechanisms of substrate mRNA recognition and degradation in mammalian cells. Biochim Biophys Acta 1829:612623.
  • Shen Y, Raymond PA. 2004. Zebrafish cone-rod (crx) homeobox gene promotes retinogenesis. Dev Biol 269:237251.
  • Silva E, Yang JM, Li Y, Dharmaraj S, Sundin OH, Maumenee IH. 2000. A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype. Invest Ophthalmol Vis Sci 41:20762079.
  • Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP. 1998. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet 63:13071315.
  • Sohocki MM, Daiger SP, Bowne SJ, Rodriquez Ja, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis Ra, Saperstein DA, Sullivan LS. 2001. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 17:4251.
  • Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. 1997. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 19:13291336.
  • Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA. 1999. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 8:299305.
  • Tam LCS, Kiang A-S, Kennan A, Kenna PF, Chadderton N, Ader M, Palfi A, Aherne A, Ayuso C, Campbell M, Reynolds A, McKee A, Humphries MM, Farrar GJ, Humphries P. 2008. Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). Hum Mol Genet 17:20842100.
  • Terrell D, Xie B, Workman M, Mahato S, Zelhof A, Gebelein B, Cook T. 2012. OTX2 and CRX rescue overlapping and photoreceptor-specific functions in the Drosophila eye. Dev Dyn 241:215228.
  • Tran NM, Zhang A, Zhang X, Huecker JB, Hennig AK, Chen S. 2014. Mechanistically distinct mouse models for CRX-associated retinopathy. PLoS Genet 10:e1004111.
  • Tzekov RT, Sohocki MM, Daiger SP, Birch DG. 2000. Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene. Ophthalmic Genet 21:8999.
  • Tzekov RT, Liu Y, Sohocki MM, Zack DJ, Daiger SP, Heckenlively JR, Birch DG. 2001. Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene. Invest Ophthalmol Vis Sci 42:13191327.
  • Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C. 2007. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. Invest Ophthalmol Vis Sci 48:56535661.
  • Vandendries ER, Johnson D, Reinke R. 1996. orthodenticle is required for photoreceptor cell development in the Drosophila eye. Dev Biol 173:243255.
  • Viczian AS, Vignali R, Zuber ME, Barsacchi G, Harris WA. 2003. XOtx5b and XOtx2 regulate photoreceptor and bipolar fates in the Xenopus retina. Development 130:12811294.
  • Vopalensky P, Pergner J, Liegertova M, Benito-Gutierrez E, Arendt D, Kozmik Z. 2012. Molecular analysis of the amphioxus frontal eye unravels the evolutionary origin of the retina and pigment cells of the vertebrate eye. Proc Natl Acad Sci USA 109:1538315388.
  • Walia S, Fishman Ga, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM. 2010. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 117:11901198.
  • Wang P, Guo X, Zhang Q. 2007. Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation. Graefes Arch Clin Exp Ophthalmol 245:14011402.
  • Watanabe S, Sanuki R, Ueno S, Koyasu T, Hasegawa T, Furukawa T. 2013. Tropisms of AAV for subretinal delivery to the neonatal mouse retina and its application for in vivo rescue of developmental photoreceptor disorders. PLoS One 8:e54146.
  • Webber AL, Hodor P, Thut CJ, Vogt TF, Zhang T, Holder DJ, Petrukhin K. 2008. Dual role of Nr2e3 in photoreceptor development and maintenance. Exp Eye Res 87:3548.
  • Won J, Shi LY, Hicks W, Wang J, Hurd R, Naggert JK, Chang B, Nishina PM. 2011. Mouse model resources for vision research. J Ophthalmol 2011:391384.
  • Yoshida S, Mears AJ, Friedman JS, Carter T, He S, Oh E, Jing Y, Farjo R, Fleury G, Barlow C, Hero AO, Swaroop A. 2004. Expression profiling of the developing and mature Nrl−/− mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl. Hum Mol Genet 13:1487503.
  • Zernant J, Kulm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. 2005. Genotyping microarray (disease chip) for leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci 46:3052 3059.
  • Zhang Q, Li S, Guo X, Guo L, Xiao X, Jia X, Kuang Z. 2001. Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype. Ophthamol Genet 22: 8996.
  • Zhang Q, Li S, Xiao X. 2002. An A112V mutation in the CRX gene identified in 3 Chinese family with retinal degeneration other than LCA., Invest Ophthamol Vis Sci 43(Supp)1:U173U173.
  • Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, Falsini B, Ghiglione D, Macaluso C, Manitto MP, Garrè C, Ciccodicola a, Rinaldi E, Banfi S. 2005. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J Med Genet 42:e47.
  • Zou X, Yao F, Liang X, Xu F, Li H, Sui R, Dong F. 2013. De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients. Ophthalmic Genet 16.