Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;1:40.

Article  PubMed  PubMed Central  Google Scholar 

al-Maghtheh M, Inglehearn CF, Keen TJ, Evans K, Moore AT, Jay M, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet. 1994;3:351–4.

Article  CAS  PubMed  Google Scholar 

Andréasson S, Ponjavic V, Abrahamson M, Ehinger B, Wu W, Fujita R, et al. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol. 1997;124:95–102.

Article  PubMed  Google Scholar 

Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, et al. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics. 1991;11:857–69.

Article  CAS  PubMed  Google Scholar 

Ali MU, Rahman MSU, Cao J, Yuan PX. Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech. 2017;7:251.

Article  PubMed  PubMed Central  Google Scholar 

Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics. 2011;12:238–49.

Article  PubMed  PubMed Central  Google Scholar 

Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132–41.

Article  CAS  PubMed  Google Scholar 

Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984;97:357–65.

Article  CAS  PubMed  Google Scholar 

Grøndahl J. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet. 1987;31:255–64.

Article  PubMed  Google Scholar 

Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, et al. Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. Genet Mol Res. 2014;13:8815–33.

Article  CAS  PubMed  Google Scholar 

Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet. 2003;63:431–44.

Article  CAS  PubMed  Google Scholar 

Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36:595–603.

Article  CAS  PubMed  Google Scholar 

Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet. 1997;34:92–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cox GF, Hansen RM, Quinn N, Fulton AB. Retinal function in carriers of Bardet-Biedl syndrome. Arch Ophthalmol. 2003;121:804–10.

Article  PubMed  Google Scholar 

Cross N, van Steen C, Zegaoui Y, Satherley A, Angelillo L. Retinitis pigmentosa: burden of disease and current unmet needs. Clin Ophthalmol. 2022;16:1993–2010.

Article  PubMed  PubMed Central  Google Scholar 

Commissioner O of the. FDA. FDA. FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss. 2020 [cited 2023 Sep 5]. Available from: https://www.fda.gov/news-events/press-announcements/fda-approves-novel-gene-therapy-treat-patients-rare-form-inherited-vision-loss.

Miraldi Utz V, Coussa RG, Antaki F, Traboulsi EI. Gene therapy for RPE65-related retinal disease. Ophthalmic Genet. 2018;39:671–7.

Article  CAS  PubMed  Google Scholar 

Kwak JJ, Kim HR, Byeon SH. Short-term outcomes of the first in vivo gene therapy for RPE65-mediated retinitis pigmentosa. Yonsei Med J. 2022;63:701–5.

Article  PubMed  PubMed Central  Google Scholar 

Li S, Datta S, Brabbit E, Love Z, Woytowicz V, Flattery K, et al. Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa. Gene Ther. 2021;28:223–41.

Article  CAS  PubMed  Google Scholar 

Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17:42–51.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Houlston RS, Tomlinson IP. Modifier genes in humans: strategies for identification. Eur J Hum Genet. 1998;6:80–8.

Article  CAS  PubMed  Google Scholar 

Harper AR, Nayee S, Topol EJ. Protective alleles and modifier variants in human health and disease. Nat Rev Genet. 2015;16:689–701.

Article  CAS  PubMed  Google Scholar 

Chow CY, Kelsey KJP, Wolfner MF, Clark AG. Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila. Hum Mol Genet. 2016;25:651–9.

Article  CAS  PubMed  Google Scholar 

Haider NB, Ikeda A, Naggert JK, Nishina PM. Genetic modifiers of vision and hearing. Hum Mol Genet. 2002;11:1195–206.

Article  CAS  PubMed  Google Scholar 

Hsieh CS, Macatonia SE, O’Garra A, Murphy KM. T cell genetic background determines default T helper phenotype development in vitro. J Exp Med. 1995;181:713–21.

Article  CAS  PubMed  Google Scholar 

Kiesewetter S, Macek M, Davis C, Curristin SM, Chu CS, Graham C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet. 1993;5:274–8.

Article  CAS  PubMed  Google Scholar 

Rose-Hellekant TA, Gilchrist K, Sandgren EP. Strain background alters mammary gland lesion phenotype in transforming growth factor-alpha transgenic mice. Am J Pathol. 2002;161:1439–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Calhoun JD, Hawkins NA, Zachwieja NJ, Kearney JA. Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome. Epilepsia. 2017;58:e111–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Eshraghi M, McFall E, Gibeault S, Kothary R. Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy. Hum Mol Genet. 2016;25:4494–506.

CAS  PubMed  PubMed Central  Google Scholar 

Tanabe LM, Martin C, Dauer WT. Genetic background modulates the phenotype of a mouse model of DYT1 dystonia. PLoS ONE. 2012;7:e32245.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, et al. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010;120:1812–23.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Maddox DM, Ikeda S, Ikeda A, Zhang W, Krebs MP, Nishina PM, et al. An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub mutant mice. Invest Ophthalmol Vis Sci. 2012;53:1663–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, et al. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 2000;408:101–6.

Article  CAS  PubMed  Google Scholar 

Schorderet DF, Escher P. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat. 2009;30:1475–85.

Article  CAS  PubMed  Google Scholar 

Cruz NM, Yuan Y, Leehy BD, Baid R, Kompella U, DeAngelis MM, et al. Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease. PLoS ONE. 2014;9:e87942.

Article  PubMed  PubMed Central  Google Scholar 

Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24:127–31.

Article  CAS  PubMed  Google Scholar 

Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003;121:1316–23.

Article  CAS