eMedicine Specialties > Ophthalmology > Phakomatoses

von Hippel-Lindau Disease

Author: Arun C Gulani, MD, Director, Gulani Vision Institute
Contributor Information and Disclosures

Updated: Nov 24, 2008

Introduction

Background

von Hippel-Lindau disease (or von Hippel disease) exhibits the characteristics of congenital capillary angiomatous hamartomas of the retina and the optic nerve.

Pathophysiology

This condition is a benign capillary hamartoma with autosomal dominant inheritance with variable penetrance. The responsible gene is on chromosome 3 (3p25-p26). This gene behaves as a typical tumor suppressor gene, as defined in Knudson's theory of carcinogenesis. A nonhereditary form also exists.

Retinal capillary hemangiomas (von Hippel disease) are seen in 50% of patients. Similar tumors in the CNS, such as hemangioblastomas in the cerebellum (ie, von Hippel-Lindau disease), and other organs of the body are present in 25% of patients. Cysts of the pancreas and kidneys may coexist. Pheochromocytoma and hypernephroma also are known to occur.

Retinal capillary hemangiomas, usually supplied by large dilated feeder vessels, may occur in any part of the retina. Serum leakage from these vessels and hemangiomas leads to retinal exudates. Organized fibroglial bands with traction retinal detachment and vitreous hemorrhage may occur with their own secondary sequelae.

On the microscopic level, the basic component is a capillary hemangioma comprised of endothelial cells and pericytes. The foamy stromal cells between the capillaries stain positive for glial fibrillary acid protein and neuron specific enolase.

Frequency

United States

This condition is uncommon in the general population.

Mortality/Morbidity

Untreated von Hippel-Lindau disease can cause serious visual impairment.

Sex

No known gender predilection exists.

Age

von Hippel-Lindau disease usually presents in the second to third decade of life.

Clinical

History

  • Patients may note a decrease in visual acuity.
  • Have a high index of suspicion of ocular lesion if a patient presents with diagnosis of von Hippel-Lindau disease.

Physical

  • Occasional lesions are noted on routine examination.
  • Loss of vision usually is caused by lipid exudate in the macula area. If left untreated, this exudation can lead to retinal detachment. Vitreous hemorrhage, secondary iris neovascularization with glaucoma, and cataract formation may follow.
  • Angiomas are the most common presenting signs and symptoms of von Hippel-Lindau disease.

Causes

See Pathophysiology.

More on von Hippel-Lindau Disease

Overview: von Hippel-Lindau Disease
Differential Diagnoses & Workup: von Hippel-Lindau Disease
Treatment & Medication: von Hippel-Lindau Disease
Follow-up: von Hippel-Lindau Disease
Multimedia: von Hippel-Lindau Disease
References
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References

  1. Champion KJ, Guinea M, Dammai V, et al. Endothelial function of von Hippel-Lindau tumor suppressor gene: control of fibroblast growth factor receptor signaling. Cancer Res. Jun 15 2008;68(12):4649-57. [Medline].

  2. Gass JD, Braunstein R. Sessile and exophytic capillary angiomas of the juxtapapillary retina and optic nerve head. Arch Ophthalmol. Oct 1980;98(10):1790-7. [Medline].

  3. Gulani AC. Ocular color Doppler. 1995;1-5.

  4. Gulani AC. Ocular color Doppler usage aids in diagnosis and evaluation of pathologies. Ocular Surgery News. 1998;16:54-5.

  5. Gulani AC, Morparia H, Bhatti SS, et al. Colour Doppler sonography: a new investigative modality for intraocular space-occupying lesions. Eye. 1994;8 (Pt 3):307-10. [Medline].

  6. Huson SM, Harper PS, Hourihan MD, et al. Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain. Dec 1986;109 (Pt 6):1297-310. [Medline].

  7. Maher ER, Bentley E, Yates JR, et al. Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis. J Neurol Sci. Dec 1990;100(1-2):27-30. [Medline].

  8. Moore AJ. Ophthalmologic screening of von Hippel Lindau disease. Eye. 1992;5:90-2.

  9. Pavesi G, Feletti A, Berlucchi S, et al. Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome. J Neurosurg Sci. Jun 2008;52(2):29-36. [Medline].

  10. Wong WT, Chew EY. Ocular von Hippel-Lindau disease: clinical update and emerging treatments. Curr Opin Ophthalmol. May 2008;19(3):213-7. [Medline].

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Further Reading

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Keywords

von Hippel-Lindau disease, von Hippel disease, Hippel disease, Hippel-Lindau syndrome, Lindau disease, hemangioblastomas, retinal angiomatosis, capillary hemangiomas of the retina, benign capillary hamartoma, retinal capillary hemangioma, angioma, renal cell carcinoma, pheochromocytoma, angiomatosis, angiomatosis retinae, VHL, HLS, VHLD

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Contributor Information and Disclosures

Author

Arun C Gulani, MD, Director, Gulani Vision Institute
Arun C Gulani, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Cataract and Refractive Surgery, and International Society of Refractive Surgery
Disclosure: Nothing to disclose.

Medical Editor

Michael J Bartiss, OD, MD, Medical Director, Ophthalmology, Family Eye Care of the Carolinas
Michael J Bartiss, OD, MD is a member of the following medical societies: American Academy of Ophthalmology, American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, American College of Surgeons, and North Carolina Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Managing Editor

J James Rowsey, MD, Former Director of Corneal Services, St Luke's Cataract and Laser Institute, Florida
J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association
Disclosure: Nothing to disclose.

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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