Verbakel SK, Van Huet RAC, Boon CJF, Den Hollander AI, Collin RWJ, Klaver CCW et al (2018) Non-syndromic retinitis pigmentosa. Prog Retin Eye Res 66:157–186. https://doi.org/10.1016/J.Preteyeres.2018.03.005

Article  PubMed  Google Scholar 

Nanda A, Salvetti AP, Clouston P, Downes SM, MacLaren RE (2018) Exploring the variable phenotypes of RPGR carrier females in assessing their potential for retinal gene therapy. Genes (Basel) 9(12):643. https://doi.org/10.3390/Genes9120643

Article  Google Scholar 

De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD et al (2021) The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. Prog Retin Eye Res 82:100898. https://doi.org/10.1016/J.Preteyeres.2020.100898

Article  PubMed  Google Scholar 

Yang J, Zhou L, Ouyang J, Xiao X, Sun W, Li S, Zhang Q (2021) Genotype-phenotype analysis of RPGR variations: reporting of 62 Chinese families and a literature review. Front Genet 12:600210. https://doi.org/10.3389/Fgene.2021.600210

CAS  Article  PubMed  PubMed Central  Google Scholar 

Jacobson SG, Yagasaki K, Feuer WJ, Roman AJ (1989) Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. Exp Eye Res 48(5):679–691. https://doi.org/10.1016/0014-4835(89)90009-2

CAS  Article  PubMed  Google Scholar 

Comander J, Weigel-Difranco C, Sandberg MA, Berson EL (2015) Visual function in carriers of X-linked retinitis pigmentosa. Ophthalmology 122(9):1899–1906. https://doi.org/10.1016/J.Ophtha.2015.05.039

Article  PubMed  Google Scholar 

Fahim AT, Daiger SP (2016) The role of X-chromosome inactivation in retinal development and disease. Adv Exp Med Biol 854:325–331. https://doi.org/10.1007/978-3-319-17121-0_43

CAS  Article  PubMed  PubMed Central  Google Scholar 

Fahim AT, Sullivan LS, Bowne SJ, Jones KD, Wheaton DKH, Khan NW et al (2020) X-chromosome inactivation is a biomarker of clinical severity in female carriers of RPGR-associated X-linked retinitis pigmentosa. Ophthalmol Retina 4(5):510–520. https://doi.org/10.1016/J.Oret.2019.11.010

Article  PubMed  Google Scholar 

Salvetti AP, Nanda A, MacLaren RE (2021) RPGR-related X-linked retinitis pigmentosa carriers with a severe “male pattern”. Ophthalmologica 244(1):60–67. https://doi.org/10.1159/000503687

CAS  Article  PubMed  Google Scholar 

Kilgore DA, Kilgore TA, Sukpraprut-Braaten S, Schaefer GB, Uwaydat SH (2021) Multimodal imaging of an RPGR carrier female. Ophthalmic Genet 42(3):312–316. https://doi.org/10.1080/13816810.2021.1881981

CAS  Article  PubMed  Google Scholar 

Talib M, Van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ et al (2018) The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene. Invest Ophthalmol Vis Sci 59(10):4123–4133. https://doi.org/10.1167/Iovs.17-23453

CAS  Article  PubMed  Google Scholar 

Grover S, Fishman GA, Anderson RJ, Lindeman M (2000) A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology 107(2):386–396. https://doi.org/10.1016/S0161-6420(99)00045-7

CAS  Article  PubMed  Google Scholar 

Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA et al (2007) Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci 48(10):4759–4765. https://doi.org/10.1167/Iovs.07-0453

Article  PubMed  PubMed Central  Google Scholar 

Birtel TH, Birtel J, Hess K, Clemens AC, Lindner M, Herrmann P et al (2021) Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa. Graefes Arch Clin Exp Ophthalmol 259(12):3597–3604. https://doi.org/10.1007/S00417-021-05233-W

CAS  Article  PubMed  PubMed Central  Google Scholar 

Gao H, Huang X, He J, Zou T, Chen X, Xu H (2021) The roles of microglia in neural remodeling during retinal degeneration. Histol Histopathol 37:18384. https://doi.org/10.14670/Hh-18-384

Article  Google Scholar 

Marques JP, Carvalho AL, Henriques J, Murta JN, Saraiva J, Silva R (2020) Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT. Orphanet J Rare Dis 15(1):304. https://doi.org/10.1186/S13023-020-01591-6

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/Gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Landis JR, Koch GG (1977) The measurement of observer agreement for categorical data. Biometrics 33(1):159–174 https://www.Ncbi.Nlm.Nih.Gov/Pubmed/843571

CAS  Article  Google Scholar 

Andreasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S et al (2003) Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 And RPGR-ORF15 genes. Ophthalmic Genet 24(4):215–223. https://doi.org/10.1076/Opge.24.4.215.17228

Article  PubMed  Google Scholar 

Li HP, Yuan SQ, Wang XG, Sheng XL, Li XR (2020) Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene. Int J Ophthalmol 13(8):1306–1311. https://doi.org/10.18240/Ijo.2020.08.18

Article  PubMed  PubMed Central  Google Scholar 

Al-Maskari A, O’Grady A, Pal B, Mckibbin M (2009) Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. Eye (Lond) 23(3):519–521. https://doi.org/10.1038/Eye.2008.427

CAS  Article  Google Scholar 

Hendriks M, Verhoeven VJM, Buitendijk GHS, Polling JR, Meester-Smoor MA, Hofman A et al (2017) Development of refractive errors-qhat can we learn from inherited retinal dystrophies? Am J Ophthalmol 182:81–89. https://doi.org/10.1016/J.Ajo.2017.07.008

Article  PubMed  Google Scholar 

Sanchez Tocino H, Diez Montero C, Villanueva Gomez A, Lobo Valentin R, Montero-Moreno JA (2019) Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. Ophthalmic Genet 40(2):170–176. https://doi.org/10.1080/13816810.2019.1605385

Article  PubMed  Google Scholar 

Ogino K, Oishi M, Oishi A, Morooka S, Sugahara M, Gotoh N et al (2015) Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa. Clin Ophthalmol 9:1467–1474. https://doi.org/10.2147/Opth.S89371

CAS  Article  PubMed  PubMed Central  Google Scholar 

Vecino E, Rodriguez FD, Ruzafa N, Pereiro X, Sharma SC (2016) Glia-neuron interactions in the mammalian retina. Prog Retin Eye Res 51:1–40. https://doi.org/10.1016/J.Preteyeres.2015.06.003

CAS  Article  PubMed  Google Scholar 

Rattner A, Nathans J (2005) The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia. J Neurosci 25(18):4540–4549. https://doi.org/10.1523/Jneurosci.0492-05.2005

CAS  Article  PubMed  PubMed Central  Google Scholar 

Martinez-Fernandez De La Camara C, Nanda A, Salvetti AP, Fischer MD, MacLaren RE (2018) Gene therapy for the treatment of X-linked retinitis pigmentosa. Expert Opin Orphan Drugs 6(3):167–177. https://doi.org/10.1080/21678707.2018.1444476

CAS  Article  PubMed  PubMed Central  Google Scholar