Skip to main content

Von Hippel Lindau Disease and Retinal Hemangioblastoma

  • Chapter
  • First Online:
Inherited Retinal Disease
  • 477 Accesses

Abstract

Von Hippel-Lindau Disease (VHL disease) is a syndrome characterized by a multiorgan neoplasm including retinal hemangioblastoma, hemanangioblastoma of brain and spinal cord, renal cell carcinoma, and pehochromocytoma. Retinal hemangioblastoma is a benign vascular neoplasm originating in the neurosensory retina or optic disc. Based on the characteristic findings of the RH on fundus examination, the diagnosis can be made. Because of the various, progressive and multifocal nature, comprehensive screening and treatment should be provided for patients.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Lonser RR, et al. von Hippel-Lindau disease. Lancet. 2003;361:2059–67.

    Article  CAS  PubMed  Google Scholar 

  2. Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19:617–23.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Latif F, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993;260:1317–20.

    Article  CAS  PubMed  Google Scholar 

  4. Neumann HP, Wiestler OD. Clustering of features and genetics of von Hippel-Lindau syndrome. Lancet. 1991;338:258.

    Article  CAS  PubMed  Google Scholar 

  5. Karimi S, et al. Von Hippel-Lindau disease and the eye. J Ophthalmic Vis Res. 2020;15:78–94.

    PubMed  PubMed Central  Google Scholar 

  6. Niemela M, et al. Hemangioblastomas of the retina: impact of von Hippel-Lindau disease. Invest Ophthalmol Vis Sci. 2000;41:1909–15.

    CAS  PubMed  Google Scholar 

  7. Seizinger BR, et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988;332:268–9.

    Article  CAS  PubMed  Google Scholar 

  8. Chan CC, Collins AB, Chew EY. Molecular pathology of eyes with von Hippel-Lindau (VHL) disease: a review. Retina. 2007;27:1–7.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Nielsen SM, et al. Von Hippel-Lindau disease: genetics and role of genetic counseling in a multiple neoplasia syndrome. J Clin Oncol. 2016;34:2172–81.

    Article  CAS  PubMed  Google Scholar 

  10. Na X, et al. Overproduction of vascular endothelial growth factor related to von Hippel-Lindau tumor suppressor gene mutations and hypoxia-inducible factor-1 alpha expression in renal cell carcinomas. J Urol. 2003;170:588–92.

    Article  CAS  PubMed  Google Scholar 

  11. Iliopoulos O, et al. Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein. Proc Natl Acad Sci U S A. 1996;93:10595–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Chew EY. Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. Trans Am Ophthalmol Soc. 2005;103:495–511.

    PubMed  PubMed Central  Google Scholar 

  13. Wong WT, et al. Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. Ophthalmology. 2008;115:181–8.

    Article  PubMed  Google Scholar 

  14. Maher ER, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990;77:1151–63.

    Article  CAS  PubMed  Google Scholar 

  15. Toy BC, et al. Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease. Ophthalmology. 2012;119:2622–30.

    Article  PubMed  Google Scholar 

  16. Choyke PL, et al. von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology. 1995;194:629–42.

    Article  CAS  PubMed  Google Scholar 

  17. Amoils SP, Smith TR. Cryotherapy of angiomatosis retinae. Arch Ophthalmol. 1969;81:689–91.

    Article  CAS  PubMed  Google Scholar 

  18. Blodi CF, et al. Direct and feeder vessel photocoagulation of retinal angiomas with dye yellow laser. Ophthalmology. 1990;97:791–5. Discussion 796–7

    Article  CAS  PubMed  Google Scholar 

  19. Gorin MB. Von Hippel-Lindau disease: clinical considerations and the use of fluorescein-potentiated argon laser therapy for treatment of retinal angiomas. Semin Ophthalmol. 1992;7:182–91.

    Article  CAS  PubMed  Google Scholar 

  20. Kreusel KM, et al. Ruthenium-106 brachytherapy for peripheral retinal capillary hemangioma. Ophthalmology. 1998;105:1386–92.

    Article  CAS  PubMed  Google Scholar 

  21. Lane CM, et al. Laser treatment of retinal angiomatosis. Eye (Lond). 1989;3(Pt 1):33–8.

    Article  Google Scholar 

  22. 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;5:47–58.

    CAS  PubMed  Google Scholar 

  23. Schmidt-Erfurth UM, et al. Benefits and complications of photodynamic therapy of papillary capillary hemangiomas. Ophthalmology. 2002;109:1256–66.

    Article  PubMed  Google Scholar 

  24. Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol. 1999;117:371–8.

    Article  CAS  PubMed  Google Scholar 

  25. Welch RB. Von Hippel-Lindau disease: the recognition and treatment of early angiomatosis retinae and the use of cryosurgery as an adjunct to therapy. Trans Am Ophthalmol Soc. 1970;68:367–424.

    CAS  PubMed  PubMed Central  Google Scholar 

  26. Agarwal A, Kumari N, Singh R. Intravitreal bevacizumab and feeder vessel laser treatment for a posteriorly located retinal capillary hemangioma. Int Ophthalmol. 2016;36:747–50.

    Article  PubMed  Google Scholar 

  27. Johnson MW, Flynn HW Jr, Gass JD. Pars plana vitrectomy and direct diathermy for complications of multiple retinal angiomas. Ophthalmic Surg. 1992;23:47–50.

    CAS  PubMed  Google Scholar 

  28. Machemer R, Williams JM Sr. Pathogenesis and therapy of traction detachment in various retinal vascular diseases. Am J Ophthalmol. 1988;105:170–81.

    Article  CAS  PubMed  Google Scholar 

  29. Singh AD, et al. Treatment of retinal capillary hemangioma. Ophthalmology. 2002;109:1799–806.

    Article  PubMed  Google Scholar 

  30. Rosa RH Jr, Goldberg MF, Green WR. Clinicopathologic correlation of argon laser photocoagulation of retinal angiomas in a patient with von Hippel-Lindau disease followed for more than 20 years. Retina. 1996;16:145–56.

    Article  PubMed  Google Scholar 

  31. Huang C, et al. Long-Term therapeutic outcomes of photodynamic therapy-based or photocoagulation-based treatments on retinal capillary hemangioma. Photomed Laser Surg. 2018;36:10–7.

    Article  CAS  PubMed  Google Scholar 

  32. Shields JA. Response of retinal capillary hemangioma to cryotherapy. Arch Ophthalmol. 1993;111:551.

    Article  CAS  PubMed  Google Scholar 

  33. Watzke RC. Cryotherapy for retinal angiomatosis. A clinicopathologic report. Arch Ophthalmol. 1974;92:399–401.

    Article  CAS  PubMed  Google Scholar 

  34. Papastefanou VP, et al. Photodynamic therapy for retinal capillary hemangioma. Eye (Lond). 2013;27:438–42.

    Article  CAS  Google Scholar 

  35. Sachdeva R, et al. Verteporfin photodynamic therapy of six eyes with retinal capillary haemangioma. Acta Ophthalmol. 2010;88:e334–40.

    Article  PubMed  Google Scholar 

  36. Gaudric A, et al. Vitreoretinal surgery for severe retinal capillary hemangiomas in von Hippel-Lindau disease. Ophthalmology. 2011;118:142–9.

    Article  PubMed  Google Scholar 

  37. Schlesinger T, et al. Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma. Arch Ophthalmol. 2007;125:1189–93.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Garcia-Arumi J, et al. Therapeutic options for capillary papillary hemangiomas. Ophthalmology. 2000;107:48–54.

    CAS  PubMed  Google Scholar 

  39. Dahr SS, et al. Intravitreal anti-vascular endothelial growth factor therapy with pegaptanib for advanced von Hippel-Lindau disease of the retina. Retina. 2007;27:150–8.

    Article  PubMed  Google Scholar 

  40. Wong WT, et al. Intravitreal ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease. Ophthalmology. 2008;115:1957–64.

    Article  PubMed  Google Scholar 

  41. George DJ, Kaelin WG Jr. The von Hippel-Lindau protein, vascular endothelial growth factor, and kidney cancer. N Engl J Med. 2003;349:419–21.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Cheolmin Yun .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2022 Springer Nature Singapore Pte Ltd.

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Yun, C. (2022). Von Hippel Lindau Disease and Retinal Hemangioblastoma. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_12

Download citation

  • DOI: https://doi.org/10.1007/978-981-16-7337-5_12

  • Published:

  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-16-7336-8

  • Online ISBN: 978-981-16-7337-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics