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Ophthalmology

Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit

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Article: 2250538 | Received 25 May 2023, Accepted 13 Aug 2023, Published online: 26 Aug 2023

References

  • Ferris FL, 3rd, Wilkinson CP, Bird A, et al. Clinical classification of age-related macular degeneration. Ophthalmology. 2013;120(4):1–10. doi: 10.1016/j.ophtha.2012.10.036.
  • Keel S, Xie J, Foreman J, et al. Prevalence of age-related macular degeneration in Australia: the Australian national eye health survey. JAMA Ophthalmol. 2017;135(11):1242–1249. doi: 10.1001/jamaophthalmol.2017.4182.
  • Wong WL, Su X, Li X, et al. Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis. Lancet Glob Health. 2014;2(2):e106–e116. doi: 10.1016/S2214-109X(13)70145-1.
  • Ferris FL, 3rd, Fine SL, Hyman L. Age-related macular degeneration and blindness due to neovascular maculopathy. Arch Ophthalmol. 1984;102(11):1640–1642. doi: 10.1001/archopht.1984.01040031330019.
  • Guymer RH, Campbell TG. Age-related macular degeneration. Lancet. 2023;401(10386):1459–1472. doi: 10.1016/S0140-6736(22)02609-5.
  • Solomon SD, Lindsley K, Vedula SS, et al. Anti-vascular endothelial growth factor for neovascular age-related macular degeneration. Cochrane Database Syst Rev. 2019;3(3):CD005139. doi: 10.1002/14651858.CD005139.pub4.
  • Liao DS, Grossi FV, El Mehdi D, et al. Complement C3 inhibitor pegcetacoplan for geographic atrophy secondary to age-related macular degeneration: a randomized phase 2 trial. Ophthalmology. 2020;127(2):186–195. doi: 10.1016/j.ophtha.2019.07.011.
  • Cabral de Guimaraes TA, Daich Varela M, Georgiou M, et al. Treatments for dry age-related macular degeneration: therapeutic avenues, clinical trials and future directions. Br J Ophthalmol. 2022;106(3):297–304. doi: 10.1136/bjophthalmol-2020-318452.
  • Yehoshua Z, de Amorim Garcia Filho CA, Nunes RP, et al. Systemic complement inhibition with eculizumab for geographic atrophy in age-related macular degeneration: the COMPLETE study. Ophthalmology. 2014;121(3):693–701. doi: 10.1016/j.ophtha.2013.09.044.
  • Desai D, Dugel PU. Complement Cascade inhibition in geographic atrophy: a review. Eye. 2022;36(2):294–302. doi: 10.1038/s41433-021-01765-x.
  • Crewe JM, Morlet N, Morgan WH, et al. Mortality and hospital morbidity of working-age blind. Br J Ophthalmol. 2013;97(12):1579–1585. doi: 10.1136/bjophthalmol-2013-303993.
  • Liew G, Michaelides M, Bunce C. A comparison of the causes of blindness certifications in England and Wales in working age adults (16-64 years), 1999-2000 with 2009-2010. BMJ Open. 2014;4(2):e004015. doi: 10.1136/bmjopen-2013-004015.
  • Stone EM, Andorf JL, Whitmore SS, et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology. 2017;124(9):1314–1331. doi: 10.1016/j.ophtha.2017.04.008.
  • Coco-Martin RM, Diego-Alonso M, Orduz-Montaña WA, et al. Descriptive study of a cohort of 488 patients with inherited retinal dystrophies. Clin Ophthalmol. 2021;15:1075–1084. doi: 10.2147/opth.S293381.
  • Saksens NT, Fleckenstein M, Schmitz-Valckenberg S, et al. Macular dystrophies mimicking age-related macular degeneration. Prog Retin Eye Res. 2014;39:23–57. doi: 10.1016/j.preteyeres.2013.11.001.
  • Stone EM, Aldave AJ, Drack AV, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012;119(11):2408–2410. doi: 10.1016/j.ophtha.2012.05.047.
  • U.S. Food and Drug Administration. FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss [Press Release]. December 18, 2017. Available from: www.fda.gov/news-events/press-announcements
  • Britten-Jones AC, Jin R, Gocuk SA, et al. The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: a systematic review. Genet Med. 2022;24(3):521–534. doi: 10.1016/j.gim.2021.10.013.
  • Garafalo AV, Cideciyan AV, Héon E, et al. Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives. Prog Retin Eye Res. 2020;77:100827. doi: 10.1016/j.preteyeres.2019.100827.
  • Fuller-Carter PI, Basiri H, Harvey AR, et al. Focused update on AAV-based gene therapy clinical trials for inherited retinal degeneration. BioDrugs. 2020;34(6):763–781. doi: 10.1007/s40259-020-00453-8.
  • Burnight ER, Giacalone JC, Cooke JA, et al. CRISPR-Cas9 genome engineering: treating inherited retinal degeneration. Prog Retin Eye Res. 2018;65:28–49. doi: 10.1016/j.preteyeres.2018.03.003.
  • Schwartz SD, Regillo CD, Lam BL, et al. Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt’s macular dystrophy: follow-up of two open-label phase 1/2 studies. Lancet. 2015;385(9967):509–516. doi: 10.1016/s0140-6736(14)61376-3.
  • Kersten E, Geerlings MJ, Pauper M, et al. Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration. Clin Genet. 2018;94(6):569–574. doi: 10.1111/cge.13447.
  • Britten-Jones AC, Gocuk SA, Goh KL, et al. The diagnostic yield of next generation sequencing in inherited retinal diseases: a systematic review and meta-analysis. Am J Ophthalmol. 2023;249:57–73. doi: 10.1016/j.ajo.2022.12.027.
  • Gocuk SA, Jiao Y, Britten-Jones AC, et al. Genetic testing of inherited retinal disease in Australian private tertiary ophthalmology practice. Clin Ophthalmol. 2022;16:1127–1138. doi: 10.2147/OPTH.S353787.
  • Fritsche LG, Igl W, Bailey JNC, et al. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 2016;48(2):134–143. doi: 10.1038/ng.3448.
  • Smailhodzic D, Fleckenstein M, Theelen T, et al. Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging. Invest Ophthalmol Vis Sci. 2011;52(12):8908–8918. doi: 10.1167/iovs.11-7926.
  • Charbel Issa P, Gliem M, Yusuf IH, et al. A specific macula-predominant retinal phenotype is associated with the CDHR1 variant c.783G > A, a silent mutation leading to in-frame exon skipping. Invest Ophthalmol Vis Sci. 2019;60(10):3388–3397. doi: 10.1167/iovs.18-26415.
  • Westeneng-van Haaften SC, Boon CJF, Cremers FPM, et al. Clinical and genetic characteristics of late-onset stargardt’s disease. Ophthalmology. 2012;119(6):1199–1210. doi: 10.1016/j.ophtha.2012.01.005.
  • Francis PJ, Schultz DW, Gregory AM, et al. Genetic and phenotypic heterogeneity in pattern dystrophy. Br J Ophthalmol. 2005;89(9):1115–1119. doi: 10.1136/bjo.2004.062695.
  • de Laat P, Smeitink JAM, Janssen MCH, et al. Mitochondrial retinal dystrophy associated with the m.3243A > G mutation. Ophthalmology. 2013;120(12):2684–2696. doi: 10.1016/j.ophtha.2013.05.013.
  • Borooah S, Collins C, Wright A, et al. Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration. Postgrad Med J. 2009;85(1007):495–500. doi: 10.1136/bjo.2008.150151.
  • Small KW, DeLuca AP, Whitmore SS, et al. North Carolina macular dystrophy is caused by dysregulation of the retinal transcription factor PRDM13. Ophthalmology. 2016;123(1):9–18. doi: 10.1016/j.ophtha.2015.10.006.
  • Khurana RN, Sun X, Pearson E, et al. A reappraisal of the clinical spectrum of North Carolina macular dystrophy. Ophthalmology. 2009;116(10):1976–1983. doi: 10.1016/j.ophtha.2009.03.028.
  • Hahn LC, van Schooneveld MJ, Wesseling NL, et al. X-linked retinoschisis: novel clinical observations and genetic spectrum in 340 patients. Ophthalmology. 2022;129(2):191–202. doi: 10.1016/j.ophtha.2021.09.021.
  • Ly A, Nivison-Smith L, Assaad N, et al. Infrared reflectance imaging in age-related macular degeneration. Ophthalmic Physiol Opt. 2016;36(3):303–316. doi: 10.1111/opo.12283.
  • Bindewald A, Bird AC, Dandekar SS, et al. Classification of fundus autofluorescence patterns in early age-related macular disease. Invest Ophthalmol Vis Sci. 2005;46(9):3309–3314. doi: 10.1167/iovs.04-0430.
  • Holz FG, Bindewald-Wittich A, Fleckenstein M, et al. Progression of geographic atrophy and impact of ­fundus autofluorescence patterns in age-related macular degeneration. Am J Ophthalmol. 2007;143(3):463–472. doi: 10.1016/j.ajo.2006.11.041.
  • Rahman N, Georgiou M, Khan KN, et al. Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. Br J Ophthalmol. 2020;104(4):451–460. doi: 10.1136/bjophthalmol-2019-315086.
  • Georgiou M, Fujinami K, Michaelides M. Retinal imaging in inherited retinal diseases. Ann Eye Sci. 2020;5:25. doi: 10.21037/aes-20-81.
  • McHugh ML. Interrater reliability: the kappa statistic. Biochem Med. 2012;22(3):276–282. doi: 10.11613/BM.2012.031.
  • Harris PA, Taylor R, Minor BL, et al. The REDCap consortium: building an international community of software platform partners. J Biomed Inform. 2019;95:103208. doi: 10.1016/j.jbi.2019.103208.
  • Harris PA, Taylor R, Thielke R, et al. Research electronic data capture (REDCap) – a metadata-driven ­methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377–381. doi: 10.1016/j.jbi.2008.08.010.
  • Australian Government. Australian privacy principles. Canberra: Australian Government; 2014.
  • Australian Government. National statement on ethical conduct in human research. Canberra: Australian Government; 2007 (updated 2018).
  • Britten-Jones AC, O’Hare F, Edwards TL, et al. Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): rationale, methodology, and initial participant characteristics. Clin Exp Ophthalmol. 2022;50(7):768–780. doi: 10.1111/ceo.14110.
  • RANZCO. The Royal Australian and New Zealand College of Ophthalmologists: guidelines for the assessment and management of patients with inherited retinal diseases (IRD). 2020. Available from: https://ranzco.edu/policies_and_guideli/guidelines-for-the-assessment-and-management-of-patients-with-inherited-retinal-degenerations-ird/