[1]

Allikmets R. 2004. Leber congenital amaurosis: a genetic paradigm. Ophthalmic Genetics 25:67−79

doi: 10.1080/13816810490514261
[2]

Apte RS. 2018. Gene therapy for retinal degeneration. Cell 173:5

doi: 10.1016/j.cell.2018.03.021
[3]

Bok D. 1993. The retinal pigment epithelium: a versatile partner in vision. Journal of Cell Science 1993:189−195

doi: 10.1242/jcs.1993.supplement_17.27
[4]

Chacon-Camacho OF, Zenteno JC. 2015. Review and update on the molecular basis of Leber congenital amaurosis. World Journal of Clinical Cases 3:112−124

doi: 10.12998/wjcc.v3.i2.112
[5]

Sahel JA. 2011. Spotlight on childhood blindness. Journal of Clinical Investigation 121:2145−2149

doi: 10.1172/jci58300
[6]

Verma A, Perumalsamy V, Shetty S, Kulm M, Sundaresan P. 2013. Mutational screening of LCA genes emphasizing RPE65 in south Indian cohort of patients. PLoS One 8:e73172

doi: 10.1371/journal.pone.0073172
[7]

Harris EW. 2001. Leber's congenital amaurosis and RPE65. International Ophthalmology Clinics 41:73−82

doi: 10.1097/00004397-200101000-00008
[8]

Rohrer B, Goletz P, Znoiko S, Ablonczy Z, Ma JX, et al. 2003. Correlation of regenerable opsin with rod ERG signal in Rpe65−/− mice during development and aging. Investigative Opthalmology & Visual Science 44:310−315

doi: 10.1167/iovs.02-0567
[9]

Feathers KL, Lyubarsky AL, Khan NW, Teofilo K, Swaroop A, et al. 2008. Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments. Investigative Opthalmology & Visual Science 49:1126−1135

doi: 10.1167/iovs.07-1234
[10]

Lyubarsky AL, Savchenko AB, Morocco SB, Daniele LL, Redmond TM, et al. 2005. Mole quantity of RPE65 and its productivity in the generation of 11-cis-retinal from retinyl esters in the living mouse eye. Biochemistry 44:9880−9888

doi: 10.1021/bi0505363
[11]

Redmond TM, Yu S, Lee E, Bok D, Hamasaki D, et al. 1998. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nature Genetics 20:344−351

doi: 10.1038/3813
[12]

Grimm C, Wenzel A, Hafezi F, Yu S, Redmond TM, et al. 2000. Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration. Nature Genetics 25:63−66

doi: 10.1038/75614
[13]

Chen Y, Moiseyev G, Takahashi Y, Ma JX. 2006. RPE65 gene delivery restores isomerohydrolase activity and prevents early cone loss in Rpe65−/− mice. Investigative Ophthalmology & Visual Science 47:1177−1184

doi: 10.1167/iovs.05-0965
[14]

Abduljaleel Z. 2019. Comprehensive structure-function analysis of causative variants in retinal pigment epithelium specific 65 kDa protein associated Leber Congenital Amaurosis. Non-coding RNA Research 4:121−127

doi: 10.1016/j.ncrna.2019.11.001
[15]

Sinim Kahraman N, Öner A, Özkul Y, Dündar M. 2022. Frequency of RPE65 gene mutation in patients with hereditary retinal dystrophy. Turkish Journal of Ophthalmology 52:270−275

doi: 10.4274/tjo.galenos.2021.74944
[16]

Feathers KL, Jia L, Khan NW, Smith AJ, Ma JX, et al. 2023. Gene supplementation in mice heterozygous for the D477G RPE65 variant implicated in autosomal dominant retinitis pigmentosa. Human Gene Therapy 34:639−648

doi: 10.1089/hum.2022.240
[17]

Vázquez-Domínguez I, Duijkers L, Fadaie Z, Alaerds ECW, Post MA, et al. 2022. The predicted splicing variant c. 11+5G>A in RPE65 leads to a reduction in mRNA expression in a cell-specific manner. Cells 11:3640

doi: 10.3390/cells11223640
[18]

Bjeloš M, Bušić M, Ćurić A, Šarić B, Bosnar D, et al. 2022. RPE65 c.353G>A, p.(Arg118Lys): a novel point mutation associated with retinitis pigmentosa and macular atrophy. International Journal of Molecular Sciences 23:10513

doi: 10.3390/ijms231810513
[19]

Pappalardo J, Heath Jeffery RC, Thompson JA, Chelva E, Pham Q, et al. 2021. A novel phenotype in a family with autosomal dominant retinal dystrophy due to c. 1430A > G in retinoid isomerohydrolase (RPE65) and c. 37C > T in bestrophin 1 (BEST1). Documenta Ophthalmologica 143:61−73

doi: 10.1007/s10633-021-09819-x
[20]

Zhong Z, Rong F, Dai Y, Yibulayin A, Zeng L, et al. 2019. Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population. Molecular Vision 25:204−214
[21]

Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, et al. 2005. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Molecular Vision 11:152−162
[22]

Takeuchi H, Inagaki S, Morozumi W, Nakano Y, Inoue Y, et al. 2018. VGF nerve growth factor inducible is involved in retinal ganglion cells death induced by optic nerve crush. Scientific Reports 8:16443

doi: 10.1038/s41598-018-34585-3
[23]

Fan J, Rohrer B, Frederick JM, Baehr W, Crouch RK. 2008. Rpe65–/–and Lrat–/–Mice: comparable models of leber congenital amaurosis. Investigative Opthalmology & Visual Science 49:2384−2389

doi: 10.1167/iovs.08-1727
[24]

Berson DM, Dunn FA, Takao M. 2002. Phototransduction by retinal ganglion cells that set the circadian clock. Science 295:1070−1073

doi: 10.1126/science.1067262
[25]

Hattar S, Liao HW, Takao M, Berson DM, Yau KW. 2002. Melanopsin-containing retinal ganglion cells: architecture, projections, and intrinsic photosensitivity. Science 295:1065−1070

doi: 10.1126/science.1069609
[26]

Tu DC, Owens LA, Anderson L, Golczak M, Doyle SE, et al. 2006. Inner retinal photoreception independent of the visual retinoid cycle. Proceedings of the National Academy of Sciences of the United States of America 103:10426−10431

doi: 10.1073/pnas.0600917103
[27]

Métrailler S, Emery M, Schorderet DF, Cottet S, Roduit R. 2013. ERK1/2 pathway is activated in degenerated Rpe65-deficient mice. Experimental Eye Research 116:86−95

doi: 10.1016/j.exer.2013.08.015
[28]

Cideciyan AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, et al. 2013. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proceedings of the National Academy of Sciences of the United States of America 110:E517−E525

doi: 10.1073/pnas.1218933110
[29]

Motta FL, Martin RP, Porto FBO, Wohler ES, Resende RG, et al. 2020. Pathogenicity reclassification of RPE65 missense variants related to leber congenital amaurosis and early-onset retinal dystrophy. Genes 11:24

doi: 10.3390/genes11010024
[30]

Li S, Xiao X, Yi Z, Sun W, Wang P, et al. 2020. RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. Acta Ophthalmologica 98:e181−e190

doi: 10.1111/aos.14181