Clinical characteristics of adult-onset foveomacular vitelliform dystrophy_Chinese Journal of Ocular Fundus Diseases

Authors：

Guo Jingli ,  Zhang Yongjin

Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai 200032, China;

Corresponding author：

Zhang Yongjin, Email: yongjinzhang@yahoo.com

Keywords：

Vitelliform macular dystrophy/diagnosis; Disease attributes; Review

DOI：

10.3760/cma.j.issn.1005-1015.2017.04.029

Video：

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Abstract Full text Figures/Tables Video References Cited by

Adult-onset foveomacular vitelliform dystrophy (AFVD) is characterized by gradually loss of vision, subretinal vitelliform macular lesions and retinal pigment epithelium (RPE) atrophy. The electrooculogram (EOG) is usually normal or reduce slightly. On optical coherence tomography (OCT), there are vitelliform substance which deposited between the photoreceptor layer and the RPE layer, and thinner outer nuclear layer above these deposits. OCT angiography can show the superficial and deep retinal capillaries plexus (DCP) above the yolk-like deposits, the choroidal capillary blood flow is reduced and the DCP blood flow is increased near macular. On indocyanine green angiography (ICG), there is choroidal neovascularization under vitelliform substance at early stage and fluorescence leakage in the corresponding retinal region at late stage. There is no effective treatment for AFVD at present, monogenic gene therapy is the most worth looking forward to. Understanding AFVD clinical manifestations, multi-mode imaging features and new advances in treatment can provide a reference for diagnosis and treatment options

Citation： Guo Jingli, Zhang Yongjin. Clinical characteristics of adult-onset foveomacular vitelliform dystrophy. Chinese Journal of Ocular Fundus Diseases, 2017, 33(4): 431-434. doi: 10.3760/cma.j.issn.1005-1015.2017.04.029 Copy

1.	Gass J. Gass atlas of macular diseases[M]. Nashville: Mosby, 1977: 256-258.
2.	Joshi KM, Nesper PL, Fawzi AA, et al. Optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy[J/OL]. Retina, 2017, 2017: E1[2017-02-14]. https://insights.ovid.com/pubmed?pmid=28198786.DOI: 10.1097/IAE.0000000000001565. [published online ahead of print].
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4.	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): 7638-7645. DOI: 10.1167/iovs.15-17603.
5.	Chowers I, Tiosano L, Audo I, et al. Adult-onset foveomacular vitelliform dystrophy: a fresh perspective[J]. Prog Retin Eye Res, 2015, 47: 64-85. DOI: 10.1016/j.preteyeres.2015.02.001.
6.	Tiosano L, Grunin M, Hagbi-Levi S, et al. Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy[J]. Br J Ophthalmol, 2016, 100(11): 1476-1481. DOI: 10.1136/bjophthalmol-2015-307658.
7.	薛莹, 张勇进, 王敏, 等.五例成人型卵黄样黄斑营养不良患者临床表型特征及致病基因突变分析[J]. 中华眼科杂志, 2014, 50(7): 523-528. DOI: 10.3760/cma.j.issn.0412-4081.2014.07.009.Xue Y, Zhang YJ, Wang M, et al. Gene mutations and clinical features of adult vitelliform macular dystrophy in 5 patients[J]. Chin J Ophthalmol, 2014, 50(7): 523-528. DOI: 10.3760/cma.j.issn.0412-4081.2014.07.009.
8.	Puche N, Querques G, Benhamou N, et al. High-resolution spectral domain optical coherence tomography features in adult onset foveomacular vitelliform dystrophy[J]. Br J Ophthalmol, 2010, 94(9): 1190-1196. DOI: 10.1136/bjo.2009.175075.
9.	Querques G, Forte R, Querques L, et al. Natural course of adult-onset foveomacular vitelliform dystrophy: a spectral-domain optical coherence tomography analysis[J]. Am J Ophthalmol, 2011, 152(2): 304-313. DOI: 10.1016/j.ajo.2011.01.047.
10.	Cohen SY, Dubois L, Nghiem-Buffet S, et al. Retinal pseudocysts in age-related geographic atrophy[J]. Am J Ophthalmol, 2010, 150(2): 211-217. DOI: 10.1016/j.ajo.2010.02.019.
11.	Spaide RF, Curcio CA. Evaluation of segmentation of the superficial and deep vascular layers of the retina by optical coherence tomography angiography instruments in normal eyes[J]. JAMA Ophthalmol, 2017, 135(3): 259-262. DOI: 10.1001/jamaophthalmol.2016.5327.
12.	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/OL]. Retina, 2017, 2017: E1[2017-05-23]. https://insights.ovid.com/pubmed?pmid=28338556. DOI: 10.1097/IAE.0000000000001615. [published online ahead of print].
13.	Battaglia PM, Rabiolo A, Cicinelli MV, et al. Quantitative analysis of optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy[J/OL]. Retina, 2017, 2017: E1 [2017-01-31]. https://insights.ovid.com/pubmed?pmid=28145974. DOI: 10.1097/IAE. 0000000000001539.[published online ahead of print].
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15.	Meunier I, Senechal A, Dhaenens CM, et al. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis[J]. Ophthalmology, 2011, 118(6): 1130-1136. DOI: 10.1016/j.ophtha.2010.10.010.
16.	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.
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18.	Boon CJ, van den Born LI, Visser L, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options [J]. Ophthalmology, 2013, 120(4): 809-820. DOI: 10.1016/j.ophtha.2012.09.057.
19.	Lee CS, Jun I, Choi SI, et al. A novel BEST1 mutation in autosomal recessive bestrophinopathy[J]. Invest Ophthalmol Vis Sci, 2015, 56(13): 8141-8150. DOI: 10.1167/iovs.15-18168.
20.	Spaide RF. Deposition of yellow submacular material in central serous chorioretinopathy resembling adult-onset foveomacular vitelliform dystrophy[J]. Retina, 2004, 24(2): 301-304.
21.	Frennesson CI, Wadelius C, Nilsson SE. Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization[J]. Acta Ophthalmol, 2014, 92(3): 238-242. DOI: 10.1111/aos.12142.
22.	Guziewicz KE, Zangerl B, Komaromy AM, et al. Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects[J/OL]. PLoS One, 2013, 8(10): 75666[2013-10-15].https://doi.org/10.1371/journal.pone.0075666.DOI: 10.1371/journal.pone.0075666.
23.	郑红梅, 邢怡桥, 陈长征, 等.光动力疗法治疗卵黄样黄斑营养不良并发脉络膜新生血管临床观察[J]. 中华眼底病杂志, 2011, 27(6): 538-541. DOI: 10.3760/cma.j.issn.1005-1015.2011.06.009.Zheng HM, Xing YQ, Chen CZ, et al. Clinical observation of photodynamic therapy for vitelliform macular dystrophy with choroidal neovascularization[J]. Chin J Ocul Fundus Dis, 2011 27 (6): 538-541. DOI: 10.3760/cma.j.issn.1005-1015.2011.06.009.
24.	Tiosano L, Jaouni T, Averbukh E, et al. Bevacizumab treatment for choroidal neovascularization associated with adult-onset foveomacular vitelliform dystrophy[J]. Eur J Ophthalmol, 2014, 24(6): 890-896. DOI: 10.5301/ejo.5000486.

1. Gass J. Gass atlas of macular diseases[M]. Nashville: Mosby, 1977: 256-258.
2. Joshi KM, Nesper PL, Fawzi AA, et al. Optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy[J/OL]. Retina, 2017, 2017: E1[2017-02-14]. https://insights.ovid.com/pubmed?pmid=28198786.DOI: 10.1097/IAE.0000000000001565. [published online ahead of print].
3. Querques G, Zambrowski O, Corvi F, et al. Optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy[J]. Br J Ophthalmol, 2016, 100(12): 1724-1730. DOI: 10.1136/bjophthalmol-2016-308370.
4. 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): 7638-7645. DOI: 10.1167/iovs.15-17603.
5. Chowers I, Tiosano L, Audo I, et al. Adult-onset foveomacular vitelliform dystrophy: a fresh perspective[J]. Prog Retin Eye Res, 2015, 47: 64-85. DOI: 10.1016/j.preteyeres.2015.02.001.
6. Tiosano L, Grunin M, Hagbi-Levi S, et al. Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy[J]. Br J Ophthalmol, 2016, 100(11): 1476-1481. DOI: 10.1136/bjophthalmol-2015-307658.
7. 薛莹, 张勇进, 王敏, 等.五例成人型卵黄样黄斑营养不良患者临床表型特征及致病基因突变分析[J]. 中华眼科杂志, 2014, 50(7): 523-528. DOI: 10.3760/cma.j.issn.0412-4081.2014.07.009.Xue Y, Zhang YJ, Wang M, et al. Gene mutations and clinical features of adult vitelliform macular dystrophy in 5 patients[J]. Chin J Ophthalmol, 2014, 50(7): 523-528. DOI: 10.3760/cma.j.issn.0412-4081.2014.07.009.
8. Puche N, Querques G, Benhamou N, et al. High-resolution spectral domain optical coherence tomography features in adult onset foveomacular vitelliform dystrophy[J]. Br J Ophthalmol, 2010, 94(9): 1190-1196. DOI: 10.1136/bjo.2009.175075.
9. Querques G, Forte R, Querques L, et al. Natural course of adult-onset foveomacular vitelliform dystrophy: a spectral-domain optical coherence tomography analysis[J]. Am J Ophthalmol, 2011, 152(2): 304-313. DOI: 10.1016/j.ajo.2011.01.047.
10. Cohen SY, Dubois L, Nghiem-Buffet S, et al. Retinal pseudocysts in age-related geographic atrophy[J]. Am J Ophthalmol, 2010, 150(2): 211-217. DOI: 10.1016/j.ajo.2010.02.019.
11. Spaide RF, Curcio CA. Evaluation of segmentation of the superficial and deep vascular layers of the retina by optical coherence tomography angiography instruments in normal eyes[J]. JAMA Ophthalmol, 2017, 135(3): 259-262. DOI: 10.1001/jamaophthalmol.2016.5327.
12. 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/OL]. Retina, 2017, 2017: E1[2017-05-23]. https://insights.ovid.com/pubmed?pmid=28338556. DOI: 10.1097/IAE.0000000000001615. [published online ahead of print].
13. Battaglia PM, Rabiolo A, Cicinelli MV, et al. Quantitative analysis of optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy[J/OL]. Retina, 2017, 2017: E1 [2017-01-31]. https://insights.ovid.com/pubmed?pmid=28145974. DOI: 10.1097/IAE. 0000000000001539.[published online ahead of print].
14. Furino C, Boscia F, Cardascia N, et al. Fundus autofluorescence, optical coherence tomography and visual acuity in adult-onset foveomacular dystrophy[J]. Ophthalmologica, 2008, 222(4): 240-244. DOI: 10.1159/000130427.
15. Meunier I, Senechal A, Dhaenens CM, et al. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis[J]. Ophthalmology, 2011, 118(6): 1130-1136. DOI: 10.1016/j.ophtha.2010.10.010.
16. 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.
17. Nakanishi A, Ueno S, Hayashi T, et al. Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort[J]. Am J Ophthalmol, 2016, 168: 86-94. DOI: 10.1016/j.ajo.2016.04.023.
18. Boon CJ, van den Born LI, Visser L, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options [J]. Ophthalmology, 2013, 120(4): 809-820. DOI: 10.1016/j.ophtha.2012.09.057.
19. Lee CS, Jun I, Choi SI, et al. A novel BEST1 mutation in autosomal recessive bestrophinopathy[J]. Invest Ophthalmol Vis Sci, 2015, 56(13): 8141-8150. DOI: 10.1167/iovs.15-18168.
20. Spaide RF. Deposition of yellow submacular material in central serous chorioretinopathy resembling adult-onset foveomacular vitelliform dystrophy[J]. Retina, 2004, 24(2): 301-304.
21. Frennesson CI, Wadelius C, Nilsson SE. Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization[J]. Acta Ophthalmol, 2014, 92(3): 238-242. DOI: 10.1111/aos.12142.
22. Guziewicz KE, Zangerl B, Komaromy AM, et al. Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects[J/OL]. PLoS One, 2013, 8(10): 75666[2013-10-15].https://doi.org/10.1371/journal.pone.0075666.DOI: 10.1371/journal.pone.0075666.
23. 郑红梅, 邢怡桥, 陈长征, 等.光动力疗法治疗卵黄样黄斑营养不良并发脉络膜新生血管临床观察[J]. 中华眼底病杂志, 2011, 27(6): 538-541. DOI: 10.3760/cma.j.issn.1005-1015.2011.06.009.Zheng HM, Xing YQ, Chen CZ, et al. Clinical observation of photodynamic therapy for vitelliform macular dystrophy with choroidal neovascularization[J]. Chin J Ocul Fundus Dis, 2011 27 (6): 538-541. DOI: 10.3760/cma.j.issn.1005-1015.2011.06.009.
24. Tiosano L, Jaouni T, Averbukh E, et al. Bevacizumab treatment for choroidal neovascularization associated with adult-onset foveomacular vitelliform dystrophy[J]. Eur J Ophthalmol, 2014, 24(6): 890-896. DOI: 10.5301/ejo.5000486.

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