Current research status of optical coherence tomography angiography in hereditary retinochoroidal degeneration_Chinese Journal of Ocular Fundus Diseases

Authors：

Wang Xiaona ,  Peng Xiaoyan

Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing 100730, ChinaWang Xiaona is working on the Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damage Ocular Nerve, Peking University Third Hospital, Beijing 100191, China;

Corresponding author：

Peng Xiaoyan, Email: Drpengxy2017@163.com

Keywords：

Tomography, optical coherence; Retinal diseases/diagnosis; Choroid diseases/ diagnosis; Eye Diseases, Hereditary; Review

DOI：

10.3760/cma.j.issn.1005-1015.2019.01.021

Video：

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OCT angiography (OCTA) is a fast, noninvasive and quantifiable new technique, which is especially suitable for long-term follow-up in patients with hereditary retinochoroidal degeneration, such as retinitis pigmentosa, Best vitelliform macular dystrophy, adult onset foveomacular vitelliform dystrophy, doyne honeycomb retinal dystrophy, choroideremia and Stargardt disease. During the follow-up, clinicians can find the subtle signs that explain disease development from the blood flow imaging, quantitatively describe the vascular density, timely detect and treat choroidal neovascularization. It is significant to explore the etiology and monitor the course of these diseases. With the development of more treatments for these diseases, OCTA parameters can also be used as indicators to evaluate and compare different therapeutic effects. In the future, more quantitative indicators of OCTA will be applied to evaluate the course of hereditary retinochoroidal degeneration, and provide valuable basis for early diagnosis and treatment.

Citation： Wang Xiaona, Peng Xiaoyan. Current research status of optical coherence tomography angiography in hereditary retinochoroidal degeneration. Chinese Journal of Ocular Fundus Diseases, 2019, 35(1): 86-90. doi: 10.3760/cma.j.issn.1005-1015.2019.01.021 Copy

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1. Bessant DA, Ali RR, Bhattacharya SS. Molecular genetics and prospects for therapy of the inherited retinal dystrophies[J]. Curr Opin Genet Dev, 2001, 11(3): 307-316. DOI: 10.1016/S0959-437X(00)00195-7.
2. Sahel JA, Marazova K, Audo I. Clinical characteristics and current therapies for inherited retinal degenerations[J/OL]. Cold Spring Harb Perspect Med, 2014, 5(2): a017111[2014-10-16]. http://perspectivesinmedicine.cshlp.org/cgi/pmidlookup?view=long&pmid=25324231. DOI: 10.1101/cshperspect.a017111.
3. Jia Y, Bailey ST, Hwang TS, et al. Quantitative optical coherence tomography angiography of vascular abnormalities in the living human eye[J]. Proc Natl Acad Sci USA, 2015, 112(18): 2395-2402. DOI: 10.1073/pnas.1500185112.
4. 李凤飞. 眼底荧光血管造影的不良反应及应对措施[J]. 中国实用眼科杂志, 2006, 24(6): 636-637. DOI: 10.3969/j.issn.1672-5085.2012.20.162.Li FF. The adverse reaction and countermeasures of fundus fluorescein angiography[J]. Chin J Pract Ophthalmol, 2006, 24(6): 636-637. DOI: 10.3969/j.issn.1672-5085.2012.20.162.
5. Phasukkijwatana N, Tan ACS, Chen X, et al. Optical coherence tomography angiography of type 3 neovascularisation in age-related macular degeneration after antiangiogenic therapy[J]. Br J Ophthalmol, 2017, 101(5): 597-602. DOI: 10.1136/bjophthalmol-2016-308815.
6. Moult E, Choi W, Waheed NK, et al. Ultrahigh-speed swept-source OCT angiography in exudative AMD[J]. Ophthalmic Surg Lasers Imaging Retina, 2014, 45(6): 496-505. DOI: 10.3928/23258160-20141118-03.
7. Nobre CJ, Keane PA, Sim DA, et al. Systematic evaluation of optical coherence tomography angiography in retinal vein occlusion[J]. Am J Ophthalmol, 2016, 163: 93-107. DOI: 10.1016/j.ajo.2015.11.025.
8. Matsunaga DR, Yi JJ, De Koo LO, et al. Optical coherence tomography angiography of diabetic retinopathy in human subjects[J]. Ophthalmic Surg Lasers Imaging Retina, 2015, 46(8): 796-805. DOI: 10.3928/23258160-20150909-03.
9. Sambhav K, Grover S, Chalam KV. The application of optical coherence tomography angiography in retinal diseases[J]. Surv Ophthalmol, 2017, 62(6): 838-866. DOI: 10.1016/j.survophthal.2017.05.006.
10. Rezaei KA, Zhang Q, Chen CL, et al. Retinal and choroidal vascular features in patients with retinitis pigmentosa imaged by OCT based microangiography[J]. Graefe's Arch Clin Exp Ophthalmol, 2017, 255(7): 1287-1295. DOI: 10.1007/s00417-017-3633-x.
11. Falsini B, Anselmi GM, Marangoni D, et al. Subfoveal choroidal blood flow and central retinal function in retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 2011, 52(2): 1064-1069. DOI: 10.1167/iovs.10-5964.
12. Zhang Y, Harrison JM, Nateras OS, et al. Decreased retinal-choroidal blood flow in retinitis pigmentosa as measured by MRI[J]. Doc Ophthalmol, 2013, 126(3): 187-197. DOI: 10.1007/s10633-013-9374-1.
13. Iacono P, Parodi MB, La SC, et al. Dynamic and static vessel analysis in patients with retinitis pigmentosa: a pilot study of vascular diameters and functionality[J]. Retina, 2017, 37(5): 998-1002. DOI: 10.1097/IAE.0000000000001301.
14. Berson EL, Rosner B, Sandberg MA, et al. Ω-3 intake and visual acuity in patients with retinitis pigmentosa receiving vitamin A[J]. Arch Ophthalmol, 2012, 130(6): 707-711. DOI: 10.1001/archophthalmol.2011.2580.
15. Liang SY, Lee LR. Retinitis pigmentosa associated with hypomagnesaemia[J]. Clin Exp Ophthalmol, 2010, 38(6): 645-647. DOI: 10.1111/j.1442-9071.2010.02314.x.
16. Nakazawa M, Ohguro H, Takeuchi K, et al. Effect of nilvadipine on central visual field in retinitis pigmentosa: a 30-month clinical trial[J]. Ophthalmologica, 2011, 225(2): 120-126. DOI: 10.1159/000320500.
17. Sugahara M, Miyata M, Ishihara K, et al. Optical coherence tomography angiography to estimate retinal blood flow in eyes with retinitis pigmentosa[J/OL]. Sci Rep, 2017, 7: 46396[2017-04-13]. http://dx.doi.org/10.1038/srep46396. DOI: 10.1038/srep46396.
18. Chung MM, Oh KT, Streb LM, et al. Visual outcome following subretinal hemorrhage in Best disease[J]. Retina, 2001, 21(6): 575-580. DOI: 10.1097/00006982-200112000-00003.
19. Strauss O. The retinal pigment epithelium in visual function[J]. Physiol Rev, 2005, 85(3): 845-881. DOI: 10.1152/physrev.00021.2004.
20. Shahzad R, Siddiqui MA. Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography[J]. J AAPOS, 2017, 21(1): 68-70. DOI: 10.1016/j.jaapos.2016.08.018.
21. Guduru A, Gupta A, Tyagi M, et al. Optical coherence tomography angiography characterisation of Best disease and associated choroidal neovascularisation[J]. Br J Ophthalmol, 2018, 102(4): 444-447. DOI: 10.1136/bjophthalmol-2017-310586.
22. Lupidi M, Coscas G, Cagini C, et al. Optical coherence tomography angiography of a choroidal neovascularization in adult onset foveomacular vitelliform dystrophy: pearls and pitfalls[J]. Invest Ophthalmol Vis Sci, 2015, 56(13): 7638-7345. DOI: 10.1167/iovs.15-17603.
23. Toto L, Borrelli E, Mastropasqua R, et al. Adult-onset foveomacular vitelliform dystrophy evaluated by means of optical coherence tomography angiography: a comparison with dry age-related macular degeneration and healthy eyes[J]. Retina, 2018, 38(4): 731-738. DOI: 10.1097/IAE.0000000000001615.
24. Arnold JJ, Sarks JP, Killingsworth MC, et al. Adult vitelliform macular degeneration: a clinicopathological study[J]. Eye, 2003, 17(6): 717-726. DOI: 10.1038/sj.eye.6700460.
25. Coscas F, Puche N, Coscas G, et al. Comparison of macular choroidal thickness in adult onset foveomacular vitelliform dystrophy and age-related macular degeneration[J]. Invest Ophthalmol Vis Sci, 2014, 55(1): 64-69. DOI: 10.1167/iovs.13-12931.
26. Stone EM, Lotery AJ, Munier FL, et al. A single EFEMP1 mutation associated with both malattia leventineseand doyne honeycomb retinal dystrophy[J]. Nat Genet, 1999, 22(2): 199-202. DOI: 10.1038/9722.
27. Timpl R, Sasaki T, Kostka G, et al. Fibulins: a versatile family of extracellular matrix proteins[J]. Nat Rev Mol Cell Biol, 2003, 4(6): 479-489. DOI: 10.1038/nrm1130.
28. Klenotic PA, Munier FL, Marmorstein LY, et al. Tissue inhibitor of metalloproteinases-3(TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1(EFEMP1). Implications for macular degenerations[J]. J Biol Chem, 2014, 279(29): 30469-30473. DOI: 10.1074/jbc.M403026200.
29. Sohn EH, Patel PJ, Maclaren RE, et al. Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy[J]. Arch Ophthalmol, 2011, 129(12): 1626-1628. DOI: 10.1001/archophthalmol.2011.338.
30. Serra R, Coscas F, Messaoudi N, et al. Choroidal neovascularization in malattia leventinese diagnosed using optical coherence tomography angiography[J]. Am J Ophthalmol, 2017, 176: 108-117. DOI: 10.1016/j.ajo.2016.12.027.
31. Kostka G, Giltay R, Bloch W, et al. Perinatal lethality and endothelial cell abnormalities in several vessel compartments of fibulin-1-deficient mice[J]. Mol Cell Biol, 2001, 21(20): 7025-7034. DOI: 10.1128/MCB.21.20.7025-7034.2001.
32. Marmorstein L. Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review[J]. Ophthalmic Genet, 2004, 25(3): 219-226. DOI: 10.1080/13816810490498305.
33. Mcculloch C, Mcculloch RJ. A hereditary and clinical study of choroideremia[J]. Trans Am Acad Ophthalmol Otolaryngol, 1948, 52: 160-190.
34. Kim DY, Fingler J, Zawadzki RJ, et al. Noninvasive imaging of the foveal avascular zone with high-speed, phase-variance optical coherence tomography[J]. Invest Ophthalmol Vis Sci, 2012, 53(1): 85-92. DOI: 10.1167/iovs.11-8249.
35. van den Hurk JA, Hendriks W, van de Pol DJ, et al. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline[J]. Hum Molr Genet, 1997, 6(6): 851-858. DOI: 10.1093/hmg/6.6.851.
36. Ghosh M, Mcculloch C, Parker JA. Pathological study in a female carrier of choroideremia[J]. Can J Ophthalmol, 1988, 23(4): 181-186.
37. Krock BL, Bilotta J, Perkins BD. Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia[J]. Proc Natl Acad Sci USA, 2007, 104(11): 4600-4605. DOI: 10.1073/pnas.0605818104.
38. Macdonald IM, Russell L, Chan CC. Choroideremia: new findings from ocular pathology and review of recent literature[J]. Surv Ophthalmol, 2009, 54(3): 401-407. DOI: 10.1016/j.survophthal.2009.02.008.
39. Shi W, van den Hurk JA, Alamo-Bethencourt V, et al. Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues[J]. Dev Biol, 2004, 272(1): 53-65. DOI: 10.1016/j.ydbio.2004.04.016.
40. Kato M, Maruko I, Koizumi H, et al. Case report: optical coherence tomography angiography and fundus autofluorescence in the eyes with choroideremia[J/OL]. BMJ Case Rep, 2017[2017-01-06]. http://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=28062428. DOI: 10.1136/bcr-2016-217682.
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