References
- Preising MN, Ayuso C. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet. 2004;25:101–110.
- Seabra MC, Ho YK, Anant JS. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J Biol Chem. 1995;270:24420–24427.
- Seabra MC, Brown MS, Goldstein JL. Retinal degeneration in choroideremia: deficiency of Rab geranylgeranyl transferase. Science. 1993;259:377–381.
- Wavre-Shapton ST, Tolmachova T, da Silva ML, et al. Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium. PLoS One. 2013;8:1–11.
- Tolmachova T, Anders R, Abrink M, et al. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. J Clin Invest. 2006;116:386–394.
- Tolmachova T, Wavre-Shapton ST, Barnard AR, et al. Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia. Investig Ophthalmol Vis Sci. 2010;51:4913–4920.
- Xue K, Oldani M, Jolly JK, et al. Correlation of optical coherence tomography and autofluorescence in the outer retina and choroid of patients with choroideremia. Investig Ophthalmol Vis Sci. 2016;57:3674–3684.
- Paavo M, Carvalho JRL, Lee W, et al. Patterns and intensities of near-infrared and short-wavelength fundus autofluorescence in choroideremia probands and carriers. Investig Ophthalmol Vis Sci. 2019;60:3752–3761.
- Gill JS, Moosajee M, Dubis AM. Cellular imaging of inherited retinal diseases using adaptive optics. Eye. 2019;33:1683–1698.
- Foote KG, Rinella N, Tang J, et al. Cone structure persists beyond margins of short-wavelength autofluorescence in choroideremia. Investig Ophthalmol Vis Sci. 2019;60:4931–4942.
- Cremers FPM, Armstrong SA, Seabra MC, et al. REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem. 1994;269:2111–2117.
- Aylward JW, Xue K, Patrício MI, et al. Retinal degeneration in choroideremia follows an exponential decay function. Ophthalmology. 2018;125:1122–1124.
- Köhnke M, Delon C, Hastie ML, et al. Rab GTPase prenylation hierarchy and its potential role in choroideremia disease. PLoS One. 2013;8:1–11.
- Tanaka D, Kameyama K, Okamoto H, et al. Caenorhabditis elegans Rab escort protein (REP-1) differently regulates each Rab protein function and localization in a tissue-dependent manner. Genes Cells. 2008;13:1141–1157.
- Strunnikova NV, Barb J, Sergeev YV, et al. Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients. PLoS One. 2009;4:e8402.
- Jauregui R, Park KS, Tanaka AJ, et al. Spectrum of disease severity and phenotype in choroideremia carriers. Am J Ophthalmol. 2019;207:77–86.
- Carrel L, Willard HF. Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A. 1999;96:7364–7369.
- Simunovic MP, Jolly JK, Xue K, et al. The spectrum of CHM gene mutations in choroideremia and their relationship to clinical phenotype. Investig Ophthalmol Vis Sci. 2016;57:6033–6039.
- Fry LE, Patrício MI, Williams J, et al. Association of messenger RNA level with phenotype in patients with choroideremia: potential implications for gene therapy dose. JAMA Ophthalmol. 2020;138:128–135.
- Radziwon A, Arno GK, Wheaton D, et al. Single-base substitutions in the CHM promoter as a cause of choroideremia. Hum Mutat. 2017;38:704–715.
- Vaché C, Torriano S, Faugère V, et al. Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses. Hum Mutat. 2019;40:31–35.
- Contestabile MT, Piane M, Cascone NC, et al. Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene. Mol Vis. 2014;20:325–333.
- Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, et al. New type of mutations in three Spanish families with choroideremia. Investig Ophthalmol Vis Sci. 2008;49:1315–1321.
- Torriano S, Erkilic N, Faugère V, et al. Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy. Hum Mol Genet. 2017;26:3573–3584.
- Esposito G, De Falco F, Tinto N, et al. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. Hum Mutat. 2011;32:1460–1469.
- Sergeev YV, Smaoui N, Sui R, et al. The functional effect of pathogenic mutations in Rab escort protein 1. Mutat Res - Fundam Mol Mech Mutagen. 2009;665:44–50.
- Fokkema IFAC, Taschner PEM, Schaafsma GCP, et al. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011;32:557–563.
- Edwards TL, Groppe M, Jolly JK, et al. Correlation of retinal structure and function in choroideremia carriers. Ophthalmology. 2015;122(6):1274-6.
- Clinical Trials NIH. [ cited 2021 Jan 6]. Available from: https://www.clinicaltrials.gov/
- Xue K, Groppe M, Salvetti AP, et al. Technique of retinal gene therapy: delivery of viral vector into the subretinal space. Eye. 2017;31:1308–1316.
- Clinical Trials NIH Identifier NCT04483440 [Internet]. 2020 [cited 2021 Jan 5]. p. 1. Available from: https://clinicaltrials.gov/ct2/show/study/NCT04483440.
- MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia: initial fi ndings from a phase 1/2 clinical trial. Lancet. 2014;383:1129–1137.
- Colella P, Ronzitti G, Mingozzi F.. Emerging issues in AAV-mediated in vivo gene therapy. Mol Ther - Methods Clin Dev. 2018;8:87–104.
- Edwards TL, Jolly JK, Groppe M, et al. Visual acuity after retinal gene therapy for choroideremia. N Engl J Med. 2016;374:1996–1998.
- Xue K, Jolly JK, Barnard AR, et al. Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia. Nat Med. 2018;24:1507–1512.
- Clinical trials NIH Record NCT02341807. 2015 [cited 2020 Oct 30]. Available from: https://clinicaltrials.gov/ct2/show/NCT02341807
- Dimopoulos IS, Hoang SC, Radziwon A, et al. Two-year results after aav2-mediated gene therapy for choroideremia: the Alberta experience. Am J Ophthalmol. 2018;193:130–142.
- Lam BL, Verriotto J, Gregori N, et al. Choroideremia gene therapy phase II clinical trial: 6-month results. Invest Ophthalmol Vis Sci. 2017;58:3386.
- Lam BL, Davis JL, Gregori NZ, et al. Choroideremia gene therapy phase 2 clinical trial: 24-month results. Am J Ophthalmol. 2019;197:65–73.
- Fischer MD, Ochakovski GA, Beier B, et al. Efficacy and safety of retinal gene therapy using adeno-associated virus vector for patients with choroideremia: a randomized clinical trial. JAMA Ophthalmol. 2019;137:1247–1254.
- Fischer MD, Ochakovski GA, Beier B, et al. Changes in retinal sensitivity after gene therapy in choroideremia. RETINA. 2020;40(1):160–168.
- Jolly JK, Xue K, Edwards TL, et al. Characterizing the natural history of visual function in choroideremia using microperimetry and multimodal retinal imaging. Investig Ophthalmol Vis Sci. 2017;58:5575–5583.
- Clinical Trials NIH Record NCT03507686 [Internet]. 2017 [cited 2020 Oct 30]. Available from: https://clinicaltrials.gov/ct2/show/NCT03507686.
- Clinical Trials NIH Record NCT03496012 [Internet]. 2017 [cited 2020 Oct 30]. Available from: https://clinicaltrials.gov/ct2/show/NCT03496012.
- Clinical Trials NIH Record NCT03584165 [Internet]. 2018 [cited 2020 Oct 30]. Available from: https://clinicaltrials.gov/ct2/show/NCT03584165.
- Byrne LC, Day TP, Visel M, et al. In vivo directed evolution of AAV in the primate retina. bioRxiv. 2019;1–12.
- Wassmer S, Comander J, Carvalho L, et al. 80. Delayed inflammatory response to intravitreal AAV gene transfer in non-human primates. Mol Ther. 2016;24:S35.
- Timmers AM, Newmark JA, Turunen HT, et al. Ocular inflammatory response to intravitreal injection of adeno-associated virus vector: relative contribution of genome and capsid. Hum Gene Ther. 2020;31:80–89.
- Jinek M, Chylinski K, Fonfara I, et al. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science. 2012;337:816–821.
- Giannelli SG, Luoni M, Castoldi V, et al. Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery. Hum Mol Genet. 2018;27:761–779.
- Hu S, Du J, Chen N, et al. In vivo CRISPR/Cas9-mediated genome editing mitigates photoreceptor degeneration in a mouse model of X-linked retinitis pigmentosa. Investig Ophthalmol Vis Sci. 2020;61:1–10.
- Maeder ML, Stefanidakis M, Wilson CJ, et al. Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. Nat Med. 2019;25:229–233.
- Peddle CF, Maclaren RE. The application of CRISPR/CAS9 for the treatment of retinal diseases. Yale J Biol Med. 2017;90:533–541.
- Fry LE, Peddle CF, Barnard AR, et al. RNA editing as a therapeutic approach for retinal gene therapy requiring long coding sequences. Int J Mol Sci. 2020;21. DOI:10.3390/ijms21030777
- Sander JD, Joung JK. CRISPR-Cas systems for editing, regulating and targeting genomes. Nat Biotechnol. 2014;32:347–350.
- Mao Z, Bozzella M, Seluanov A, et al. DNA repair by nonhomologous end joining and homologous recombination during cell cycle in human cells. Cell Cycle. 2008;7:2902–2906.
- Song F, Stieger K. Optimizing the DNA donor template for homology-directed repair of double-strand breaks. Mol Ther Nucleic Acids. 2017;7:53–60.
- Komor AC, Kim YB, Packer MS, et al. Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage. Nature. 2016;533(7603):420–424.
- Komor AC, Zhao KT, Packer MS, et al. Improved base excision repair inhibition and bacteriophage Mu Gam protein yields C:G-to-T:A base editors with higher efficiency and product purity. Sci Adv. 2017;3:eaao4774.
- Kurt IC, Zhou R, Iyer S, et al. CRISPR C-to-G base editors for inducing targeted DNA transversions in human cells. Nat Biotechnol. 2020;39:41–46.
- Anzalone AV, Randolph PB, Davis JR, et al. Search-and-replace genome editing without double-strand breaks or donor DNA. Nature. 2019;576:149–157.
- Kantor A, McClements ME, MacLaren RE. CRISPR-Cas9 DNA base-editing and prime-editing. Int J Mol Sci. 2020;21:6240.
- Nishikura K. A-to-I editing of coding and non-coding RNAs by ADARs. Nat Rev Mol Cell Biol. 2016;17:83–96.
- Huang X, Lv J, Li Y, et al. Programmable C‐to‐U RNA editing using the human APOBEC 3A deaminase. EMBO J. 2020;39(22):e104741.
- Abudayyeh OO, Gootenberg JS, Franklin B, et al. A cytosine deaminase for programmable single-base RNA editing. Science. 2019;538:eaax7063.
- Cox DBT, Gootenberg JS, Abudayyeh OO, et al. RNA editing with CRISPR-Cas13. Science. 2017;358:1019–1027.
- Marina RJ, Brannan KW, Dong KD, et al. Evaluation of engineered CRISPR-Cas-mediated systems for site-specific RNA editing. Cell Rep. 2020;33:108350.
- Montiel-Gonźalez MF, Vallecillo-Viejo IC, Rosenthal JJC. An efficient system for selectively altering genetic information within mRNAs. Nucleic Acids Res. 2016;44:1–12.
- Katrekar D, Chen G, Meluzzi D, et al. In vivo RNA editing of point mutations via RNA-guided adenosine deaminases. Nat Methods. 2019;16:239–242.
- Qu L, Yi Z, Zhu S, et al. Programmable RNA editing by recruiting endogenous ADAR using engineered RNAs. Nat Biotechnol. 2019;37:1059–1069.
- Merkle T, Merz S, Reautschnig P, et al. Precise RNA editing by recruiting endogenous ADARs with antisense oligonucleotides. Nat Biotechnol. 2019;37:133–138.
- Xue K, MacLaren RE. Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases. Expert Opin Investig Drugs. 2020;29:1163–1170.
- Collin RW, Den Hollander AI, Der Velde-Visser SDV, et al. Antisense oligonucleotide (AON)-based therapy for leber congenital amaurosis caused by a frequent mutation in CEP290. Mol Ther Nucleic Acids. 2012;1:e14.
- Gerard X, Perrault I, Hanein S, et al. AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation. Mol Ther Nucleic Acids. 2012;1:e29.
- Cideciyan AV, Jacobson SG, Drack AV, et al. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. Nat Med. 2019;25:225–228.
- Van Den Hurk JAJM, Van De Pol DJR, Wissinger B, et al. Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet. 2003;113:268–275.
- Garanto A, van der Velde-visser SD, Cremers FPM, et al. Antisense oligonucleotide-based splice correction of a deep-intronic mutation in chm underlying choroideremia. In: Ash JD, Anderson RE, LaVail MM, et al., editors. Retinal degeneration Disease. Cham: Springer International Publishing; 2018. 83–89.
- Richardson R, Smart M, Tracey-White D, et al. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders. Exp Eye Res. 2017;155:24–37.
- Moosajee M, Gregory-Evans K, Ellis CD, et al. Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum Mol Genet. 2008;17:3987–4000.
- Moosajee M, Tracey-White D, Smart M, et al. Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsensemediated zebrafish model. Hum Mol Genet. 2016;25:3416–3431.
- Kerem E, Konstan MW, De Boeck K, et al. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med. 2014;2:539–547.
- McDonald CM, Campbell C, Torricelli RE, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390:1489–1498.
- Torriano S, Erkilic N, Baux D, et al. The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy. Sci Rep. 2018;8:1–15.
- Tolmachova T, Tolmachov OE, Barnard AR, et al. Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo. J Mol Med. 2013;91:825–837.