Inactive macular neovascularization in Stargardt’s disease

Abstract

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.

Keywords

Stargardt’s disease / retinal dystrophy / lipofuscin

References

[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] Battaglia Parodi M., Munk M.R., Iacono P., Bandello F. Ranibizumab for subfoveal choroidal neovascularisation associated with Stargardt disease // Br J Ophthalmol. 2015. Vol. 99, No. 9. P. 1268–1270. DOI: 10.1136/bjophthalmol-2014-305783

[3] Kaizer PK, Fridmen N Dzh, Pineda R. Oftal’mologiya: illyustrirovannoe rukovodstvo. Transl. from English. Ed. by Takhchidi XP. Moscow: GEOTAR-Media, 2019. 784 p.

[4] Кайзер П.К., Фридмэн Н.Дж., Пинеда Р. Офтальмология: иллюстрированное руководство / пер. с англ. под ред. X.П. Тахчиди. Москва: ГЭОТАР-Медиа, 2019. 784 с.

[5] 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.)

[6] Борзенок С.А., Шурыгина М.Ф., Хлебникова О.В., Соломин В.А. Современные возможности дифференциальной диагностики болезни Штаргардта // Практическая медицина. 2012. № 4(59). С. 81–83.

[7] 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

[8] 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. Vol. 5, No. 3. P. 308–311. DOI: 10.1038/ng1193-308

[9] 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

[10] Жоржоладзе Н.В., Шеремет Н.Л., Танас А.С., Стрельников В.В. Новые возможности терапии болезни Штаргардта // Вестник офтальмологии. 2020. Т. 136, № 4. С. 333–343. DOI: 10.17116/oftalma2020136042333

[11] 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

[12] Stargardt K. Über familiäre, progressive Degeneration in der Maculagegend des Auges // Graefes Arhiv für Ophthalmologie. 1909. Vol. 71. S. 534–550. DOI: 10.1007/BF01961301

[13] 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

[14] Шеремет Н.Л., Грушкэ И.Г., Жоржоладзе Н.В., и др. Клинико-генетические корреляции у пациентов с наследственными заболеваниями сетчатки при мутации p.G1961E в гене АВСА4 // Вестник офтальмологии. 2019. Т. 135, № 4. P. 10–18. DOI: 10.17116/oftalma201913504110

[15] 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

[16] 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. Vol. 57, No. 1. P. 145–152. DOI: 10.1167/iovs.15-18190

[17] 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

[18] Zernant J., Schubert C., Im K.M., et al. Analysis of the ABCA4 gene by next-generation sequencing // Invest Ophthalmol Vis Sci. 2011. Vol. 52, No. 11. P. 8479–8487. DOI: 10.1167/iovs.11-8182

[19] 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

[20] Japiassú R.M., Moura Brasil O.F., Maia H.S., et al. Photodynamic therapy for bilateral and simultaneous choroidal neovascularization in Stargardt disease // Retin Cases Brief Rep. 2008. Vol. 2, No. 1. P. 9–11. DOI: 10.1097/ICB.0b013e3180467837

[21] 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.)

[22] Шурыгина М. Ф., Борзенок С. А., Хлебникова О. В. Болезнь Штаргардта. Этиопатогенетические особенности заболевания. Возможности клинической и молекулярно-генетической диагностики (обзор литературы) // Офтальмохирургия. 2013. № 3. С. 97–101.

[23] 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

[24] Querques G., Bocco M.C., Soubrane G., Souied E.H. Intravitreal ranibizumab (Lucentis) for choroidal neovascularization associated with Stargardt’s disease // Graefes Arch Clin Exp Ophthalmol. 2008. Vol. 246, No. 2. P. 319–321. DOI: 10.1007/s00417-007-0689-z

[25] 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

[26] Cheng J.Y., Adrian K.H. Photodynamic therapy for choroidal neovascularization in stargardt disease and retinitis pigmentosa // Retin Cases Brief Rep. 2009. Vol. 3, No. 4. P. 388–390. DOI: 10.1097/ICB.0b013e31817f2e3f

[27] 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

[28] Kim H.H., Carvounis P.E., Albini T.A., et al. Photodynamic therapy for bilateral subfoveal choroidal neovascularization complicating Stargardt macular dystrophy // Retin Cases Brief Rep. 2008. Vol. 2, No. 1. P. 6–8. DOI: 10.1097/ICB.0b013e318033907f

[29] 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

[30] 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. Vol. 31, No. 6. P. 3164–3176. DOI: 10.1177/1120672120986370

RIGHTS & PERMISSIONS

Eco-Vector