Ocular Von Hippel-Lindau Disease



Retinal capillary hemangiomas are benign vascular tumors of the retina. They can be unifocal, multifocal, unilateral or bilateral, sporadic or inherited. It is heritable as autosomal dominant inheritance when associated with von Hippel-Lindau (VHL) disease. Treatment of retinal capillary hemangioma can be observation, laser photocoagulation, cryotherapy and/or plaque radiotherapy. VHL disease can be associated with central nervous system hemangioma, renal cell carcinoma and visceral tumors. VHL gene is present on chromosome 3p25-26 and suspected individuals can therefore undergo genetic testing and focused systemic surveillance. This chapter describes the ophthalmic and systemic manifestations associated with retinal capillary hemangioma.


Retinal capillary hemangioma Von Hippel-Lindau disease 


  1. 1.
    Maher ER, Iselius L, Yates JR, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet. 1991;28(7):443–7.PubMedPubMedCentralCrossRefGoogle Scholar
  2. 2.
    Singh AD, Shields CL, Shields JA. von Hippel-Lindau disease. Surv Ophthalmol. 2001;46(2):117–42.PubMedCrossRefGoogle Scholar
  3. 3.
    Singh AD, Rundle PA, Rennie I. Retinal vascular tumors. Ophthalmol Clin N Am. 2005;18(1):167–76. xCrossRefGoogle Scholar
  4. 4.
    Melmon KL, Rosen SW. Lindau’s disease. Review of the literature and study of a large kindred. Am J Med. 1964;36:595–617.PubMedCrossRefGoogle Scholar
  5. 5.
    Magee MA, Kroll AJ, Lou PL, Ryan EA. Retinal capillary hemangiomas and von Hippel-Lindau disease. Semin Ophthalmol. 2006;21(3):143–50.PubMedCrossRefGoogle Scholar
  6. 6.
    Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. The Lancet. 2003;361(9374):2059–67.CrossRefGoogle Scholar
  7. 7.
    Lamiell JM, Salazar FG, Hsia YE. von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore). 1989;68(1):1–29.CrossRefGoogle Scholar
  8. 8.
    Maher ER, Yates JR, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990;77(283):1151–63.CrossRefGoogle Scholar
  9. 9.
    Neumann HP, Wiestler OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. The Lancet. 1991;337:1052.CrossRefGoogle Scholar
  10. 10.
    Salazar FG, Lamiell JM. Early identification of retinal angiomas in a large kindred von Hippel-Lindau disease. Am J Ophthalmol. 1980;89(4):540–5.PubMedCrossRefGoogle Scholar
  11. 11.
    Carr RE, Noble KG. Retinal angiomatosis. Ophthalmology. 1980;87(9):956–9.. 961PubMedCrossRefGoogle Scholar
  12. 12.
    Augsburger JJ, Shields JA, Goldberg RE. Classification and management of hereditary retinal angiomas. Int Ophthalmol. 1981;4(1–2):93–106.PubMedCrossRefGoogle Scholar
  13. 13.
    Gass JD, Braunstein R. Sessile and exophytic capillary angiomas of the juxtapapillary retina and optic nerve head. Arch Ophthalmol. 1980;98(10):1790–7.PubMedCrossRefGoogle Scholar
  14. 14.
    Schmidt D, Natt E, Neumann HP. Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease. Eur J Med Res. 2000;5(2):47–58.PubMedGoogle Scholar
  15. 15.
    Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol. 1999;117(3):371–8.PubMedCrossRefGoogle Scholar
  16. 16.
    Vail D. Angiomatosis retinae, eleven years after diathermy coagulation. Am J Ophthalmol. 1958;46(4):525–34.PubMedCrossRefGoogle Scholar
  17. 17.
    Haining WM, Zweifach PH. Fluorescein angiography in von Hippel-Lindau disease. Arch Ophthalmol. 1967;78(4):475–9.PubMedCrossRefGoogle Scholar
  18. 18.
    Shields CL, Shields JA, De Potter P. Patterns of indocyanine green videoangiography of choroidal tumours. Br J Ophthalmol. 1995;79(3):237–45.PubMedPubMedCentralCrossRefGoogle Scholar
  19. 19.
    Goes F, Benozzi J. Ultrasonography of haemangioma of the optic disc. Bull Soc Belge Ophtalmol. 1980;190:87–97.PubMedGoogle Scholar
  20. 20.
    Lieb WE, Shields JA, Cohen SM, et al. Color Doppler imaging in the management of intraocular tumors. Ophthalmology. 1990;97(12):1660–4.PubMedCrossRefGoogle Scholar
  21. 21.
    Kremer I, Gilad E, Ben-Sira I. Juxtapapillary exophytic retinal capillary hemangioma treated by yellow krypton (568 nm) laser photocoagulation. Ophthalmic Surg. 1988;19(10):743–7.PubMedGoogle Scholar
  22. 22.
    Lane CM, Turner G, Gregor ZJ, Bird AC. Laser treatment of retinal angiomatosis. Eye. 1989;3:33–8.PubMedCrossRefGoogle Scholar
  23. 23.
    Bonnet M, Garmier G. Treatment of retinal capillary angiomas of von Hippel’s disease. J Fr Ophtalmol. 1984;7(8–9):545–55.PubMedGoogle Scholar
  24. 24.
    Finger PT, Chin KJ, Yu G-P, Palladium-103 for Choroidal Melanoma Study Group. Risk factors for radiation maculopathy after ophthalmic plaque radiation for choroidal melanoma. Am J Ophthalmol. 2010;149(4):608–15.PubMedCrossRefGoogle Scholar
  25. 25.
    Kreusel KM, Bornfeld N, Lommatzsch A, Wessing A, Foerster MH. Ruthenium-106 brachytherapy for peripheral retinal capillary hemangioma. Ophthalmology. 1998;105(8):1386–92.PubMedCrossRefGoogle Scholar
  26. 26.
    von Buelow M, Pape S, Hoerauf H. Systemic bevacizumab treatment of a juxtapapillary retinal haemangioma. Acta Ophthalmol Scand. 2007;85(1):114–6.CrossRefGoogle Scholar
  27. 27.
    Slim E, Antoun J, Kourie HR, Schakkal A, Cherfan G. Intravitreal bevacizumab for retinal capillary hemangioblastoma: a case series and literature review. Can J Ophthalmol. 2014;49(5):450–7.PubMedCrossRefGoogle Scholar
  28. 28.
    Albiñana V, Escribano RMJ, Soler I, et al. Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease. Orphanet J Rare Dis. 2017;12(1):122.PubMedPubMedCentralCrossRefGoogle Scholar
  29. 29.
    Dahr SS, Cusick M, Rodriguez-Coleman H, et al. Intravitreal anti-vascular endothelial growth factor therapy with pegaptanib for advanced von Hippel-Lindau disease of the retina. Retina. 2007;27(2):150–8.PubMedCrossRefGoogle Scholar
  30. 30.
    Choyke PL, Glenn GM, Walther MM, Patronas NJ, Linehan WM, Zbar B. von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology. 1995;194(3):629–42.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2020

Authors and Affiliations

  1. 1.The New York Eye Cancer CenterNew YorkUSA

Personalised recommendations