Choroideremia: Update On Clinical Features And Emerging Treatments

References

• Kalatzis V, Hamel CP, MacDonald IM. Choroideremia: towards a therapy. Am J Ophthalmol. 2013;156(3):433.e3–437.e3. doi:10.1016/j.ajo.2013.05.009
   Web of Science ®Google Scholar
• L M. Original description of choroideremia as a retinal dystrophy. Ber Naturwissensch-Med Ver Inssbruck. 1872;2191–2197.
   Google Scholar
• 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. Invest Ophthalmol Vis Sci. 2016;57(8):3674–3684. doi:10.1167/iovs.15–18364
   Web of Science ®Google Scholar
• Xue K, MacLaren RE. Ocular gene therapy for choroideremia: clinical trials and future perspectives. Expert Rev Ophthalmol. 2018;13(3):129–138. doi:10.1080/17469899.2018.1475232
   PubMed Web of Science ®Google Scholar
• Mitsios A, Dubis AM, Moosajee M. Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments. Ther Adv Ophthalmol. 2018. 10. 2515841418817490–2515841418817490. doi:10.1177/2515841418817490
   Web of Science ®Google Scholar
• Bonilha VL, Trzupek KM, Li Y, et al. Choroideremia: analysis of the retina from a female symptomatic carrier. Ophthalmic Genet. 2008;29(3):99–110. doi:10.1080/13816810802206499
   PubMed Web of Science ®Google Scholar
• Edwards TL, Groppe M, Jolly JK, Downes SM, MacLaren RE. Correlation of retinal structure and function in choroideremia carriers. Ophthalmology. 2015;122(6):1274–1276. doi:10.1016/j.ophtha.2014.12.036
   Web of Science ®Google Scholar
• Barnard AR, Groppe M, MacLaren RE. Gene therapy for choroideremia using an adeno-associated viral (AAV) vector. Cold Spring Harb Perspect Med. 2014;5(3):a017293–a017293. doi:10.1101/cshperspect.a017293
   Web of Science ®Google Scholar
• MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet (London, England). 2014;383(9923):1129–1137. doi:10.1016/S0140-6736(13)62117-0
   PubMed Web of Science ®Google Scholar
• Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, et al. A comprehensive analysis of choroideremia: from genetic characterization to clinical practice. PLoS One. 2016;11(4):e0151943. doi:10.1371/journal.pone.0151943
   PubMed Web of Science ®Google Scholar
• Seabra MC, Brown MS, Slaughter CA, Südhof TC, Goldstein JL. Purification of component A of rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell. 1992;70(6):1049–1057. doi:10.1016/0092-8674(92)90253-9
   PubMed Web of Science ®Google Scholar
• Preising M, Ayuso C. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet. 2004;25(2):101–110. doi:10.1080/13816810490514333
   PubMedGoogle Scholar
• Furgoch MJB, Mewes-Arès J, Radziwon A, Macdonald IM. Molecular genetic diagnostic techniques in choroideremia. Mol Vis. 2014;20:535–544.
   PubMed Web of Science ®Google Scholar
• Coussa RG, Traboulsi EI. Choroideremia: a review of general findings and pathogenesis. Ophthalmic Genet. 2012;33(2):57–65. doi:10.3109/13816810.2011.620056
   PubMed Web of Science ®Google Scholar
• Pennesi ME, Birch DG, Duncan JL, Bennett J, Girach A. CHOROIDEREMIA: retinal degeneration with an unmet need. RETINA. 2019;39(11):2059–2069. doi:10.1097/IAE.0000000000002553
   PubMed Web of Science ®Google Scholar
• Simunovic MP, Jolly JK, Xue K, et al. The spectrum of CHM gene mutations in choroideremia and their relationship to clinical phenotype. Invest Ophthalmol Vis Sci. 2016;57(14):6033–6039. doi:10.1167/iovs.16–20230
   PubMed Web of Science ®Google Scholar
• Cameron JD, Fine BS, Shapiro I. Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract. Ophthalmology. 1987;94(2):187–196. doi:10.1016/S0161-6420(87)33479-7
   Web of Science ®Google Scholar
• Flannery JG, Bird AC, Farber DB, Weleber RG, Bok D. A histopathologic study of a choroideremia carrier. Investig Ophthalmol Vis Sci. 1990;31(2):229–236.
   Web of Science ®Google Scholar
• Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. JAMA Ophthalmol. 2007;125(8):1107–1113. doi:10.1001/archopht.125.8.1107
   Web of Science ®Google Scholar
• MacDonald IM, Russell L, Chan -C-C. Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol. 2009;54(3):401–407. doi:10.1016/j.survophthal.2009.02.008
   PubMed Web of Science ®Google Scholar
• Gregg AR, Van den Veyver IB, Gross SJ, Madankumar R, Rink BD, Norton ME. Noninvasive prenatal screening by next-generation sequencing. Annu Rev Genomics Hum Genet. 2014. doi:10.1146/annurev-genom–090413–025341
   Web of Science ®Google Scholar
• Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010. doi:10.1038/nmeth0810–575
   Web of Science ®Google Scholar
• Zhu L, Cheng J, Zhou B, et al. Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT). Mol Med Rep. 2017. doi:10.3892/mmr.2017.6119
   Web of Science ®Google Scholar
• Huang AS, Kim LA, Fawzi AA. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation. Arch Ophthalmol (Chicago, Ill 1960). 2012;130(9):1184–1189. doi:10.1001/archophthalmol.2012.1117
   Google Scholar
• Coussa RG, Kim J, Traboulsi EI. Choroideremia: effect of age on visual acuity in patients and female carriers. Ophthalmic Genet. 2012;33(2):66–73. doi:10.3109/13816810.2011.623261
   PubMed Web of Science ®Google Scholar
• Rosenberg T, Schwartz M, Niebuhr E, et al. Choroideremia in interstitial deletion of the X chromosome. Ophthalmic Paediatr Genet. 1986;7(3):205–210. doi:10.3109/13816818609004140
   Web of Science ®Google Scholar
• MacDonald IM, Hume S, Chan S, et al. Choroideremia. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews®. Seattle:University of Washington, Seattle; 1993–2019. 2003 (updated 2015).
   Google Scholar
• Campos-Pavón J, Torres-Peña JL. Choroidal neovascularization secondary to choroideremia. Arch Soc Esp Oftalmol. 2015;90(6):289–291. doi:10.1016/j.oftale201506008.
   Google Scholar
• Renner AB, Kellner U, Cropp E, et al. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology. 2006. doi:10.1016/j.ophtha.2006.05.045
   Web of Science ®Google Scholar
• Khan KN, Islam F, Moore AT, Michaelides M. Clinical and genetic features of choroideremia in childhood. Ophthalmology. 2016;123:2158–2165. doi:10.1016/j.ophtha.2016.06.051
   PubMed Web of Science ®Google Scholar
• Jolly JK, Edwards TL, Moules J, Groppe M, Downes SM, MacLaren RE. A qualitative and quantitative assessment of fundus autofluorescence patterns in patients with choroideremia. Invest Ophthalmol Vis Sci. 2016;57(10):4498–4503. doi:10.1167/iovs.15–18362
   Web of Science ®Google Scholar
• Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. Ophthalmology. 2009;116(6):1201.e2–1209.e2. doi:10.1016/j.ophtha.2009.01.016
   Web of Science ®Google Scholar
• Heon E, Alabduljalil T, McGuigan DB, et al. Visual function and central retinal structure in choroideremia. Investig Ophthalmol Vis Sci. 2016. doi:10.1167/iovs.15–18421
   Web of Science ®Google Scholar
• Heon E, Alabduljalil T, McGuigan III DB, et al. Visual function and central retinal structure in choroideremianatural history of choroideremia. Invest Ophthalmol Vis Sci. 2016;57(9):OCT377–OCT387. doi:10.1167/iovs.15–18421
   Web of Science ®Google Scholar
• Morgan JIW, Han G, Klinman E, et al. High-resolution adaptive optics retinal imaging of cellular structure in choroideremia. Invest Ophthalmol Vis Sci. 2014;55(10):6381–6397. doi:10.1167/iovs.13–13454
   Web of Science ®Google Scholar
• Abbouda A, Lim W, Sprogyte L, Webster AMM. Quantitative and qualitative features of spectral-domain optical coherence tomography provide prognostic indicators for visual acuity in patients with choroideremia. Ophthalmic Surg Lasers Imaging Retina. 2017;48(9):711–716. doi:10.3928/23258160-20170829-05
   Web of Science ®Google Scholar
• Syed R, Sundquist SM, Ratnam K, et al. High-resolution images of retinal structure in patients with choroideremia. Invest Ophthalmol Vis Sci. 2013;54(2):950–961. doi:10.1167/iovs.12–10707
   Web of Science ®Google Scholar
• Borrelli E, Sarraf D, Freund KB, Sadda SR. OCT angiography and evaluation of the choroid and choroidal vascular disorders. Prog Retin Eye Res. 2018. doi:10.1016/j.preteyeres.2018.07.002
   Web of Science ®Google Scholar
• Jain N, Jia Y, Gao SS, et al. Optical coherence tomography angiography in choroideremia: correlating choriocapillaris loss with overlying degeneration. JAMA Ophthalmol. 2016;134(6):697–702. doi:10.1001/jamaophthalmol.2016.0874
   PubMed Web of Science ®Google Scholar
• Patel RC, Gao SS, Zhang M, et al. Optical coherence tomography angiography of choroidal neovascularization in four inherited retinal dystrophies. Retina. 2016;36(12):2339–2347.
   Web of Science ®Google Scholar
• Abbouda A, Dubis AM, Webster AR, Moosajee M. Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography. Eye (Lond). 2018;32(3):563–571. doi:10.1038/eye.2017.242
   PubMed Web of Science ®Google Scholar
• Forsius H, Hyvärinen LEA, Nieminen H, Flower R. Fluorescein and indocyanine green fluorescence angiography in study of affected males and in female carriers with choroideremia. Acta Ophthalmol. 1977;55(3):459–470. doi:10.1111/j.1755-3768.1977.tb06123.x
   Web of Science ®Google Scholar
• Sieving PA, Niffenegger JH, Berson EL. Electroretinographic findings in selected pedigrees with choroideremia. Am J Ophthalmol. 1986;101(3):361–367. doi:10.1016/0002-9394(86)90832-9
   Web of Science ®Google Scholar
• Xue K, Groppe M, Salvetti AP, MacLaren RE. Technique of retinal gene therapy: delivery of viral vector into the subretinal space. Eye (Lond). 2017;31(9):1308–1316. doi:10.1038/eye.2017.158
   PubMed Web of Science ®Google Scholar
• Xue K, Jolly JK, Barnard AR, et al. Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia. Nat Med. 2018;24(10):1507–1512. doi:10.1038/s41591-018-0185-5
   PubMed Web of Science ®Google Scholar
• Perin EC, Silva GV. Stem cell therapy for cardiac diseases. Curr Opin Hematol. 2004;11:399–403. doi:10.1097/01.moh.0000143359.77689.aa
   PubMed Web of Science ®Google Scholar
• Ramsden CM, Powner MB, Carr A-JF, Smart MJK, da Cruz L, Coffey PJ. Stem cells in retinal regeneration: past, present and future. Development. 2013;140:2576–2585. doi:10.1242/dev.092270
   PubMed Web of Science ®Google Scholar
• 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;385:509–516. doi:10.1016/S0140-6736(14)61376-3
   PubMed Web of Science ®Google Scholar
• Mandai M, Watanabe A, Kurimoto Y, et al. Autologous induced stem-cell–derived retinal cells for macular degeneration. N Engl J Med. 2017;376(11):1038–1046. doi:10.1056/NEJMoa1608368
   PubMed Web of Science ®Google Scholar
• da Cruz L, Fynes K, Georgiadis O, et al. Phase 1 clinical study of an embryonic stem cell–derived retinal pigment epithelium patch in age-related macular degeneration. Nat Biotechnol. 2018;36:328. doi:10.1038/nbt.4114
   PubMed Web of Science ®Google Scholar
• Duong TT, Vasireddy V, Ramachandran P, et al. Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment. Stem Cell Res. 2018;27:140–150. doi:10.1016/j.scr.2018.01.009
   PubMed Web of Science ®Google Scholar
• Richardson R, Smart M, Tracey-White D, Webster AR, Moosajee M. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders. Exp Eye Res. 2017;155:24–37. doi:10.1016/j.exer.2017.01.001
   PubMed Web of Science ®Google Scholar
• 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 nonsense-mediated zebrafish model. Hum Mol Genet. 2016;25(16):3416–3431. doi:10.1093/hmg/ddw184
   PubMed Web of Science ®Google Scholar
• Schaffrath K, Schellhase H, Walter P, et al. One-year safety and performance assessment of the argus ii retinal prosthesis: a postapproval study. JAMA Ophthalmol. 2019;137:896. doi:10.1001/jamaophthalmol.2019.1476
   Web of Science ®Google Scholar