Inactive macular neovascularization in Stargardt’s disease

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The article describes a case report of bilateral inactive macular neovascularization in Stargardt’s disease in a young woman. The data of the ophthalmological examination, as well as those of the molecular genetic analysis are presented, the tactics of the patient’s care is discussed. No case report of the kind has been described in the literature previously, and therefore this one is of great interest.

作者简介

Pavel Volodin

S. Fyodorov Eye Microsurgery Federal State Institution

Email: volodinpl@mntk.ru
ORCID iD: 0000-0003-1460-9960

MD, Dr. Sci. (Med.), Professor, Head at the Retina Laser Surgery Department

俄罗斯联邦, Moscow

Elena Pedanova

S. Fyodorov Eye Microsurgery Federal State Institution

Email: elenamntk@mail.ru
ORCID iD: 0000-0001-5191-3385
SPIN 代码: 1409-0712

MD, Research Associate of the Retina Laser Surgery Department

俄罗斯联邦, Moscow

Angelina Matyaeva

S. Fyodorov Eye Microsurgery Federal State Institution

编辑信件的主要联系方式.
Email: matyaeva.lina@yandex.ru
ORCID iD: 0000-0001-7543-619X
SPIN 代码: 3302-0808

Medical Resident

俄罗斯联邦, Moscow

Mariya Poroshina

S. Fyodorov Eye Microsurgery Federal State Institution

Email: doctor_poroshina@mail.ru
ORCID iD: 0000-0002-3110-4772
SPIN 代码: 8654-8948

Medical Resident

俄罗斯联邦, Moscow

参考

  1. Battaglia Parodi M, Munk MR, Iacono P, Bandello F. Ranibizumab for subfoveal choroidal neovascularisation associated with Stargardt disease. Br J Ophthalmol. 2015;99(9):1268–1270. doi: 10.1136/bjophthalmol-2014-305783
  2. Kaizer PK, Fridmen N Dzh, Pineda R. Oftal’mologiya: illyustrirovannoe rukovodstvo. Transl. from English. Ed. by Takhchidi XP. Moscow: GEOTAR-Media, 2019. 784 p.
  3. Borzenok SA, Shurygina MF, Khlebnikova OV, Solomin VA. Modern possibilities of differential diagnosis of the disease Stargardt. Practical Medicine. 2012;(4(59)):81–83. (In Russ.)
  4. Kaplan J, Gerber S, Larget-Piet D, et al. A gene for Stargardt’s disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet. 1993;5(3):308–311. doi: 10.1038/ng1193-308
  5. Zhorzholadze NV, Sheremet NL, Tanas AS, Strelnikov VV. New possibilities in the treatment of Stargardt disease. The Russian Annals of Ophthalmology. 2020;136(4):333–343. (In Russ.) doi: 10.17116/oftalma2020136042333
  6. Stargardt K. Über familiäre, progressive Degeneration in der Maculagegend des Auges. Graefes Arhiv für Ophthalmologie. 1909;71:534–550. (In Germany.) doi: 10.1007/BF01961301
  7. Sheremet NL, Grushke IG, Zhorzholadze NV, et al. Phenotype-genotype correlations in patients with inherited retinal diseases with p.G1961E mutation in the ABCA4 gene. Vestnik Oftalmologii. 2019;135(4):10–18. (In Russ.) doi: 10.17116/oftalma201913504110
  8. Jiang F, Pan Z, Xu K, et al. Screening of ABCA4 gene in a chinese cohort with Stargardt disease or cone-rod dystrophy with a report on 85 novel mutations. Invest Ophthalmol Vis Sci. 2016;57(1):145–152. doi: 10.1167/iovs.15-18190
  9. Zernant J, Schubert C, Im KM, et al. Analysis of the ABCA4 gene by next-generation sequencing. Invest Ophthalmol Vis Sci. 2011;52(11):8479–8487. doi: 10.1167/iovs.11-8182
  10. Japiassú RM, Moura Brasil OF, Maia HS, et al. Photodynamic therapy for bilateral and simultaneous choroidal neovascularization in Stargardt disease. Retin Cases Brief Rep. 2008;2(1):9–11. doi: 10.1097/ICB.0b013e3180467837
  11. Shurygina M, Borzenok SA, Khlebnikova OV. Etiopathogenetic feature of Starghardt disease. The opportunities of clinical and molecular genetic diagnosis (Literature review). Ophthalmosurgery. 2012;(3):97–101. (In Russ.)
  12. Querques G, Bocco MC, Soubrane G, Souied EH. Intravitreal ranibizumab (Lucentis) for choroidal neovascularization associated with Stargardt’s disease. Graefes Arch Clin Exp Ophthalmol. 2008;246(2):319–321. doi: 10.1007/s00417-007-0689-z
  13. Cheng JY, Adrian KH. Photodynamic therapy for choroidal neovascularization in Stargardt disease and retinitis pigmentosa. Retin Cases Brief Rep. 2009;3(4):388–390. doi: 10.1097/ICB.0b013e31817f2e3f
  14. Kim HH, Carvounis PE, Albini TA, et al. Photodynamic therapy for bilateral subfoveal choroidal neovascularization complicating stargardt macular dystrophy. Retin Cases Brief Rep. 2008;2(1):6–8. doi: 10.1097/ICB.0b013e318033907f
  15. Querques G, Sacconi R, Capuano V, et al. Treatment-naïve quiescent macular neovascularization secondary to AMD: The 2019 Young Investigator Lecture of Macula Society. Eur J Ophthalmol. 2021;31(6):3164–3176. doi: 10.1177/1120672120986370

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2. Fig. 1. Fundus photograph of the patient. In the macular area and along the arcades, there are bright spots with local pigmentation: a — right eye; b — left eye

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3. Fig. 2. Fundus autofluorescence of the patient. In the macular area and along the arcades, foci of increased autofluorescence (lipofuscin) correspond to bright spots in fig. 1: a — right eye; c — left eye. OCT: optically dense content in the fovea and parafovea (vitelliform material); destruction of the photoreceptor layer: b — right eye; d — left eye

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4. Fig. 3. OCT-A of patient. In the depth of the hyperreflective material, a network of pathological blood flow is determined: a, b — right eye; c, d — left eye

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