Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitispigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available inclinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especiallyAsian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severenyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other geneticmutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal inearly childhood, and the phenotype is highly variable depending on the type of mutations in RPE65-associated retinal dystrophy,which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of RPE65-associated retinaldystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy productfor the treatment of RPE65-related retinal dystrophy.
Abstract
Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitispigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available inclinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especiallyAsian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severenyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other geneticmutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal inearly childhood, and the phenotype is highly variable depending on the type of mutations in RPE65-associated retinal dystrophy,which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of RPE65-associated retinaldystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy productfor the treatment of RPE65-related retinal dystrophy.
참고문헌 (154)
- Dias MF, "Molecular genetics and emerging therapies for retinitis pigmentosa : basic research and clinical perspectives", Prog Retin Eye Res, 63, pp.107~131 (2018)
- Sallum JM, "Epidemiology of mutations in the 65-kDa retinal pigment epithelium(RPE65)gene-mediated inherited retinal dystrophies : a systematic literature review", Adv Ther, 39, pp.1179~1198 (2022)
- Chung DC, "The natural history of inherited retinal dystrophy due to biallelic mutations in the RPE65 gene", Am J Ophthalmol, 199, pp.58~70 (2019)
- Stone EM, "Leber congenital amaurosis : a model for efficient genetic testing of heterogeneous disorders : LXIV Edward Jackson Memorial Lecture", Am J Ophthalmol, 144, pp.791~811 (2007)
- Bertelsen M, "Prevalence of generalized retinal dystrophy in Denmark", Ophthalmic Epidemiol, 21, pp.217~223 (2014)
- Holtan JP, "Inherited retinal disease in Norway : a characterization of current clinical and genetic knowledge", Acta Ophthalmol, 98, pp.286~295 (2020)
- Eisenberger T, "Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies", PLoS One, 8, pp.e78496~ (2013)
- Weisschuh N, "Genetic architecture of inherited retinal degeneration in Germany : a large cohort study from a single diagnostic center over a 9-year period", Hum Mutat, 41, pp.1514~1527 (2020)
- Vallespin E, "Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray", Invest Ophthalmol Vis Sci, 48, pp.5653~5661 (2007)
- Henderson RH, "An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy", Invest Ophthalmol Vis Sci, 48, pp.5684~5689 (2007)
- Whelan L, "Findings from a genotyping study of over 1000 people with inherited retinal disorders in Ireland", Genes (Basel), 11, pp.105~ (2020)
- Booij JC, "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1genes in patients with juvenile retinitis pigmentosa", J Med Genet, 42, pp.e67~ (2005)
- Haer-Wigman L, "Diagnostic exome sequencing in 266 Dutch patients with visual impairment", Eur J Hum Genet, 25, pp.591~599 (2017)
- Simonelli F, "Clinical and molecular genetics of Leber’s congenital amaurosis : a multicenter study of Italian patients", Invest Ophthalmol Vis Sci, 48, pp.4284~4290 (2007)
- Coppieters F, "Genetic screening of LCA in Belgium : predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes", Hum Mutat, 31, pp.E1709~66 (2010)
- Bocquet B, "Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France : assessment of 21-year data management", Ophthalmic Epidemiol, 20, pp.13~25 (2013)
- Astuti GD, "Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark", Eur J Hum Genet, 24, pp.1071~1079 (2016)
- Heon E, "RPE65 is the predominant LCA gene in a Canadian ethnically diverse LCA patient population", Invest Ophthalmol Vis Sci, 56, pp.3847~ (2015)
- Zernant J, "Genotyping microarray(disease chip)for Leber congenital amaurosis : detection of modifier alleles", Invest Ophthalmol Vis Sci, 46, pp.3052~3059 (2005)
- Dharmaraj SR, "Mutational analysis and clinical correlation in Leber congenital amaurosis", Ophthalmic Genet, 21, pp.135~150 (2000)
- Galvin JA, "Evaluation of genotype-phenotype associations in Leber congenital amaurosis", Retina, 25, pp.919~929 (2005)
- Simovich MJ, "Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis", Hum Mutat, 18, pp.164~ (2001)
- Morimura H, "Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis", Proc Natl Acad Sci U S A, 95, pp.3088~3093 (1998)
- Lotery AJ, "Mutation analysis of 3 genes in patients with Leber congenital amaurosis", Arch Ophthalmol, 118, pp.538~543 (2000)
- Zenteno JC, "Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing", Mol Genet Genomic Med, 8 (2020)[DOI]
- Glen WB Jr, "A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy", Ophthalmic Genet, 40, pp.110~117 (2019)
- Xu Y, "Molecular genetics of Leber congenital amaurosis in Chinese : new data from 66 probands and mutation overview of 159 probands", Exp Eye Res, 149, pp.93~99 (2016)
- Liu J, "A gene scan study of RPE65 in Chinese patients with Leber congenital amaurosis", Chin Med J(Engl), 130, pp.2709~2712 (2017)
- Li L, "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis", PLoS One, 6, pp.e19458~ (2011)
- Chen Y, "Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis", Invest Ophthalmol Vis Sci, 54, pp.4351~4357 (2013)
- Zhong Z, "Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population", Mol Vis, 25, pp.204~214 (2019)
- Xu K, "Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy", Br J Ophthalmol, 104, pp.932~937 (2020)
- Mamatha G, "Screening of the RPE65 gene in the Asian Indian patients with Leber congenital amaurosis", Ophthalmic Genet, 29, pp.73~78 (2008)
- Sundaresan P, "Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India", Mol Vis, 15, pp.1781~1787 (2009)
- Srikrupa NN, "Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing", Clin Genet, 93, pp.329~339 (2018)
- Verma A, "Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients", PLoS One, 8, pp.e73172~ (2013)
- Viswarubhiny S, "Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India", Eye Vis(Lond), 8, pp.20~ (2021)
- Surl D, "Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis", Mol Vis, 26, pp.26~35 (2020)
- Seong MW, "Molecular characterization of Leber congenital amaurosis in Koreans", Mol Vis, 14, pp.1429~1436 (2008)
- Thompson JA, "The genetic profile of Leber congenital amaurosis in an Australian cohort", Mol Genet Genomic Med, 5, pp.652~667 (2017)
- Sitorus RS, "Analysis of three genes in Leber congenital amaurosis in Indonesian patients", Vision Res, 43, pp.3087~3093 (2003)
- El Matri K, "Clinical and genetic characteristics of Leber congenital amaurosis in the Tunisian population : experience of the oculogenetic laboratory LR14SP01", Acta Ophthalmol, 96, pp.35~ (2018)
- Motta FL, "Relative frequency of inherited retinal dystrophies in Brazil", Sci Rep, 8, pp.15939~ (2018)
- Sallum JM, "Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients", Am J Med Genet C Semin Med Genet, 184, pp.728~752 (2020)
- AlHamahami A, "Phenotypic and genotypic characterization of Leber congenital amaurosis in Omani families : a Sultan Qaboos University Hospital experience", Oman Med J, 33(Abstr Suppl) (2018)
- Khan AO, "Genetic analysis of strictly defined Leber congenital amaurosis with(and without)neurodevelopmental delay", Br J Ophthalmol, 98, pp.1724~1728 (2014)
- Hanein S, "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, pp.306~317 (2004)
- Lopez-Rodriguez R, "RPE65-related retinal dystrophy : mutational and phenotypic spectrum in 45 affected patients", Exp Eye Res, 212, pp.108761~ (2021)
- Li S, "RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China", Acta Ophthalmol, 98, pp.e181~90 (2020)
- Xu F, "Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients", Mol Vis, 18, pp.744~750 (2012)
- Li Y, "Mutation survey of known LCA genes and loci in the Saudi Arabian population", Invest Ophthalmol Vis Sci, 50, pp.1336~1343 (2009)
- Srilekha S, "Homozygosity mapping in Leber congenital amaurosis and autosomal recessive retinitis pigmentosa in South Indian families", PLoS One, 10, pp.e0131679~ (2015)
- Skorczyk-Werner A, "Novel gene variants in Polish patients with Leber congenital amaurosis(LCA)", Orphanet J Rare Dis, 15, pp.345~ (2020)
- McKibbin M, "Genotype-phenotype correlation for Leber congenital amaurosis in Northern Pakistan", Arch Ophthalmol, 128, pp.107~113 (2010)
- Na KH, "Prevalence, age at diagnosis, mortality, and cause of death in retinitis pigmentosa in Korea: a nationwide population-based study", Am J Ophthalmol, 176, pp.157~165 (2017)
- Rim TH, "Four-year nationwide incidence of retinitis pigmentosa in South Korea : a population-based retrospective study from 2011 to 2014", BMJ Open, 7, pp.e015531~ (2017)
- Najera C, "Epidemiology of retinitis pigmentosa in the Valencian community(Spain)", Genet Epidemiol, 12, pp.37~46 (1995)
- Ammann F, "Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland", J Neurol Sci, 2, pp.183~196 (1965)
- Haim M, "Epidemiology of retinitis pigmentosa in Denmark", Acta Ophthalmol Scand Suppl, (233), pp.1~34 (2002)
- Peterlin B, "Prevalence of retinitis pigmentosa in Slovenia", Clin Genet, 42, pp.122~123 (1992)
- Chizzolini M, "Good epidemiologic practice in retinitis pigmentosa : from phenotyping to biobanking", Curr Genomics, 12, pp.260~266 (2011)
- Bundey S, "A study of retinitis pigmentosa in the city of Birmingham", J Med Genet, 23, pp.188~ (1986)
- Bunker CH, "Prevalence of retinitis pigmentosa in Maine", Am J Ophthalmol, 97, pp.357~365 (1984)
- Grondahl J, "Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway", Clin Genet, 31, pp.255~264 (1987)
- Puech B, "Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France", J Fr Ophtalmol, 14, pp.153~164 (1991)
- Hu DN, "Prevalence and mode of inheritance of major genetic eye diseases in China", J Med Genet, 24, pp.584~588 (1987)
- Sharon D, "A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium(IIRDC)", Hum Mutat, 41, pp.140~149 (2020)
- O’Neill JJ, "The epidemiology of retinitis pigmentosa in Northern Ireland", Invest Ophthalmol Vis Sci, 48, pp.3724~ (2007)
- Gonzalez-del Pozo M, "Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing", PLoS One, 6, pp.e27894~ (2011)
- Bocquet B, "Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations", Mol Vis, 19, pp.2487~2500 (2013)
- Pierrache LH, "Prevalence of retinitis pigmentosa subtypes in two Rotterdam-based tertiary care centers", Acta Ophthalmol, 96(Suppl. A260), pp.26~27 (2018)
- Colombo L, "Molecular epidemiology in 591 italian probands with nonsyndromic retinitis pigmentosa and usher syndrome", Invest Ophthalmol Vis Sci, 62, pp.13~ (2021)
- Wang F, "Next generation sequencing-based molecular diagnosis of retinitis pigmentosa : identification of a novel genotype-phenotype correlation and clinical refinements", Hum Genet, 133, pp.331~345 (2014)
- Perea-Romero I, "Author correction : genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications", Sci Rep, 11, pp.10340~ (2021)
- Kimchi A, "Nonsyndromic retinitis pigmentosa in the Ashkenazi Jewish population : genetic and clinical aspects", Ophthalmology, 125, pp.725~734 (2018)
- Singh HP, "Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening", Invest Ophthalmol Vis Sci, 50, pp.4065~4071 (2009)
- Dan H, "Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa", Mol Genet Genomic Med, 8, pp.e1131~ (2020)
- Pontikos N, "Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom", Ophthalmology, 127, pp.1384~1394 (2020)
- Tran VH, "Genetics of retinitis pigmentosa and other hereditary retinal disorders in Western Switzerland", Invest Ophthalmol Vis Sci, 55, pp.4514~ (2014)
- Feldhaus B, "Leber congenital amaurosis(LCA) : prevalence of mutations in a large German cohort and clinical characterization of the associated phenotype", Invest Ophthalmol Vis Sci, 59, pp.1832~ (2018)
- Ramkumar HL, "A report on molecular diagnostic testing for inherited retinal dystrophies by targeted genetic analyses", Genet Test Mol Biomarkers, 21, pp.66~73 (2017)
- Villanueva A, "Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent", Ophthalmic Genet, 39, pp.73~79 (2018)
- Gao FJ, "Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population", Orphanet J Rare Dis, 16, pp.174~ (2021)
- Magliyah M, "Late presentation of RPE65 retinopathy in three siblings", Doc Ophthalmol, 140, pp.289~297 (2020)
- Tayebi N, "Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families", Mol Vis, 25, pp.106~117 (2019)
- Habibi I, "Genetic spectrum of retinal dystrophies in Tunisia", Sci Rep, 10, pp.11199~ (2020)
- Khan AO, "Phenotype-guided genetic testing of pediatric inherited retinal disease in the United Arab Emirates", Retina, 40, pp.1829~1837 (2020)
- Hull S, "Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy", Am J Med Genet C Semin Med Genet, 184, pp.708~717 (2020)
- Maranhao B, "Investigating the molecular basis of retinal degeneration in a familial cohort of Pakistani decent by exome sequencing", PLoS One, 10, pp.e0136561~ (2015)
- Mejecase C, "The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates", Am J Med Genet C Semin Med Genet, 184, pp.762~772 (2020)
- Rehman AU, "Exploring the genetic landscape of retinal diseases in North-Western Pakistan reveals a high degree of autozygosity and a prevalent founder mutation in ABCA4", Genes(Basel), 11, pp.12~ (2019)
- Maria M, "Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from Pakistan", PLoS One, 10, pp.e0119806~ (2015)
- Salmaninejad A, "Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies", Sci Rep, 10, pp.19413~ (2020)
- Hamel CP, "Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro", J Biol Chem, 268, pp.15751~15757 (1993)
- Cai X, "RPE65: role in the visual cycle, human retinal disease, and gene therapy", Ophthalmic Genet, 30, pp.57~62 (2009)
- Travis GH, "Diseases caused by defects in the visual cycle : retinoids as potential therapeutic agents", Annu Rev Pharmacol Toxicol, 47, pp.469~512 (2007)
- "Standard Protein BLAST"[URL]
- "ClinVar"[URL]
- Fokkema IF, "The LOVD3 platform : efficient genome-wide sharing of genetic variants", Eur J Hum Genet, 29, pp.1796~1803 (2021)
- Stenson PD, "Human Gene Mutation Database(HGMD) : 2003 update", Hum Mutat, 21, pp.577~581 (2003)
- Karczewski, "The mutational constraint spectrum quantified from variation in 141,456humans", Nature, 581, pp.434~443 (2020)
- Wiel L, "MetaDome : pathogenicity analysis of genetic variants through aggregation of homologous human protein domains", Hum Mutat, 40, pp.1030~1038 (2019)
- Pierrache LH, "Longitudinal study of RPE65-associated inherited retinal degenerations", Retina, 40, pp.1812~1828 (2020)
- Chung DC, "Absence of genotype-phenotype correlations in RPE65 gene mutations associated with autosomal recessive retinal dystrophy", Invest Ophthalmol Vis Sci, 56, pp.2891~ (2015)
- Stone EM, "Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease", Ophthalmology, 124, pp.1314~1331 (2017)
- Sodi A, "RPE65-associated inherited retinal diseases : consensus recommendations for eligibility to gene therapy", Orphanet J Rare Dis, 16, pp.257~ (2021)
- Weisschuh N, "Mutation detection in patients with retinal dystrophies using targeted next generation sequencing", PLoS One, 11, pp.e0145951~ (2016)
- Zeitz C, "Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders", Hum Mutat, 40, pp.765~787 (2019)
- Aoun M, "Inherited retinal diseases due to RPE65 variants : from genetic diagnostic management to therapy", Int J Mol Sci, 22, pp.7207~ (2021)
- Yang U, "Utility of In vitro mutagenesis of RPE65 protein for verification of mutational pathogenicity before gene therapy", JAMA Ophthalmol, 137, pp.1381~1388 (2019)
- Mahajan VB, "RPE65 Mutation subtype effects on baseline visual function and treatment response in phase 3 voretigene neparvovec trial", Proceedings of the American Academy of Ophthalmology Annual Meeting (2018)
- Alastalo TP, "Prevalence and genetic characteristics of RPE65-associated retinal disease", Invest Ophthalmol Vis Sci, 60, pp.400~ (2019)
- Ellingford JM, "Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases", J Med Genet, 55, pp.114~121 (2018)
- Thompson DA, "Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively", Am J Hum Genet, 70, pp.224~229 (2002)
- Gu SM, "Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy", Nat Genet, 17, pp.194~197 (1997)
- Mantere T, "Long-read sequencing emerging in medical genetics", Front Genet, 10, pp.426~ (2019)
- Bowne SJ, "A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement", Eur J Hum Genet, 19, pp.1074~1081 (2011)
- Maguire AM, "Clinical perspective : treating RPE65-associated retinal dystrophy", Mol Ther, 29, pp.442~463 (2021)
- Han J, "Diagnostic application of clinical exome sequencing in Leber congenital amaurosis", Mol Vis, 23, pp.649~659 (2017)
- Mustafi D, "The current state of genetic testing platforms for inherited retinal diseases", Ophthalmol Retina, 6, pp.702~710 (2022)
- Lambert SR, "Follow-up and diagnostic reappraisal of 75 patients with Leber’s congenital amaurosis", Am J Ophthalmol, 107, pp.624~631 (1989)
- Foxman SG, "Classification of congenital and early onset retinitis pigmentosa", Arch Ophthalmol, 103, pp.1502~1506 (1985)
- Werdich XQ, "Systemic diseases associated with retinal dystrophies", Semin Ophthalmol, 29, pp.319~328 (2014)
- Chao DL, "GeneReviews" (1993), University of Washington
- Walia S, "Visual acuity in patients with Leber’s congenital amaurosis and early childhood-onset retinitis pigmentosa", Ophthalmology, 117, pp.1190~1198 (2010)
- Kumaran N, "Leber congenital amaurosis", early-onset severe retinal dystrophy:clinical features, molecular genetics and therapeutic interventions, 2017, pp.101, 1147~1154
- Testa F, "RPE65-associated retinopathies in the italian population : a longitudinal natural history study", Invest Ophthalmol Vis Sci, 63, pp.13~ (2022)
- Koenekoop RK, "An overview of Leber congenital amaurosis : a model to understand human retinal development", Surv Ophthalmol, 49, pp.379~398 (2004)
- Lorenz B, "Early-onset severe rod-cone dystrophy in young children with RPE65 mutations", Invest Ophthalmol Vis Sci, 41, pp.2735~2742 (2000)
- Paunescu K, "Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations", Graefes Arch Clin Exp Ophthalmol, 243, pp.417~426 (2005)
- Weleber RG, "The phenotype of Severe Early Childhood Onset Retinal Dystrophy(SECORD)from mutation of RPE65 and differentiation from Leber congenital amaurosis", Invest Ophthalmol Vis Sci, 52, pp.292~302 (2011)
- Schatz P, "Fundus albipunctatus associated with compound heterozygous mutations in RPE65", Ophthalmology, 118, pp.888~894 (2011)
- Porto FB, "Prenatal human ocular degeneration occurs in Leber’s congenital amaurosis(LCA2)", J Gene Med, 4, pp.390~396 (2002)
- Jacobson SG, "Human cone photoreceptor dependence on RPE65 isomerase", Proc Natl Acad Sci U S A, 104, pp.15123~15128 (2007)
- Cideciyan AV, "Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement", Proc Natl Acad Sci U S A, 110, pp.E517~25 (2013)
- Lorenz B, "Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65", Ophthalmology, 111, pp.1585~1594 (2004)
- Kumaran N, "Retinal structure in RPE65-associated retinal dystrophy", Invest Ophthalmol Vis Sci, 61, pp.47~ (2020)
- Russell S, "Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial", Lancet, 390, pp.849~860 (2017)
- Maguire AM, "Safety and efficacy of gene transfer for Leber’s congenital amaurosis", N Engl J Med, 358, pp.2240~2248 (2008)
- Maguire AM, "Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis : a phase 1 dose-escalation trial", Lancet, 374, pp.1597~1605 (2009)
- Lopez J, "Subretinal deposits in young patients treated with voretigene neparvovec-rzyl for RPE65-mediated retinal dystrophy", Br J Ophthalmol, 107, pp.299~301 (2023)
- Klein M, "Psychophysical assessment of low visual function in patients with retinal degenerative diseases(RDDs)with the Diagnosys full-field stimulus threshold(D-FST)", Doc Ophthalmol, 119, pp.217~224 (2009)
- Bennett J, "Five-year post-injection results of the phase 3 trial of voretigene neparvovec-rzyl in biallelic RPE65 mutation-associated inherited retinal disease", Invest Ophthalmol Vis Sci, 62, pp.3540~ (2021)
- Sengillo JD, "Visual acuity, retinal morphology, and patients’ perceptions after voretigene neparovec-rzyl therapy for RPE65-associated retinal disease", Ophthalmol Retina, 6, pp.273~283 (2022)
- Deng C, "Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis", Graefes Arch Clin Exp Ophthalmol, 260, pp.1543~1550 (2022)
- Rudnick N, "Early post-approval results of gene therapy for RPE65-mediated retinal dystrophy with Luxturna(voretigene neparvovec)at Massachusetts Eye and Ear", Invest Ophthalmol Vis Sci, 60, pp.3397~ (2019)
- Testa F, "Voretigene neparvovec gene therapy in clinical practice : treatment of the first two Italian pediatric patients", Transl Vis Sci Technol, 10, pp.11~ (2021)
- 곽지용, "Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa", Yonsei Medical Journal, 63(7), pp.701~705 (2022), 연세대학교의과대학[DOI]
- Ferraz Sallum JM, "The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil", Ophthalmic Genet, 43, pp.550~554 (2022)
- Ducloyer JB, "Macular fold complicating a subretinal injection of voretigene neparvovec", Ophthalmol Retina, 4, pp.456~458 (2020)
- Fan KC, "Surgical techniques for the subretinal delivery of pediatric gene therapy", Ophthalmol Retina, 4, pp.644~645 (2020)
- Stingl K, "Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec", Br J Ophthalmol, 106, pp.831~838 (2022)
- Fischer MD, "PERCEIVE study report : real-world safety and effectiveness of voretigene neparvovec", Invest Ophthalmol Vis Sci, 63, pp.451~ (2022)
- Gange WS, "Perifoveal Chorioretinal atrophy after subretinal voretigene neparvovec-rzyl for RPE65-mediated Leber congenital amaurosis", Ophthalmol Retina, 6, pp.58~64 (2022)
