eMedicine Specialties > Ophthalmology > Phakomatoses

von Hippel-Lindau Disease: Differential Diagnoses & Workup

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

Updated: Nov 24, 2008

Differential Diagnoses

Other Problems to Be Considered

Choroidal mass (tumor/metastasis)
Retinal telangiectasis
Retinal macroaneurysms

Workup

Laboratory Studies

  • Vanillylmandelic acid levels in urine

Imaging Studies

  • CT scan of brain with contrast
  • MRI of brain (posterior fossa emphasis)
  • Abdominal CT scan (to look for pheochromocytoma)
  • Ophthalmic ultrasound
  • Ocular color Doppler sonography
    • In clinically diagnosed cases of angiomatosis retinae, applied color Doppler sonography is used to delineate the dilated, enlarged, and closely running feeder vessels on the retinal surface. The opposing directions of flow may indicate an artery or a vein. The angioma is not imaged because of a low-flow system. The above findings may be highly suggestive of angiomatosis retinae.
    • Patients can be diagnosed clinically using ophthalmoscopy with its pathognomic appearance. The fundus shows the presence of an angioma in the temporal retinal periphery. Vessels will appear.
    • A 7.5 MHz linear array transducer (Acuson 128XP) is used to examine the eyes. Real-time, gray-scale images and color Doppler images are obtained. Pulsed Doppler analysis also can be used to evaluate vascular dynamics.
    • On application of color Doppler sonography, the feeder vessels appear to be a pair of dilated, tortuous blood vessels coursing to the angioma from the optic disc. The color image depicts the flow in these vessels to be in opposite directions. No flow can be appreciated in the angioma. These findings are of value in diagnosing this condition in cases where the visualization of the fundus is not possible with an ophthalmoscope due to opaque media, which may be a complication of the disease.
    • The regression of the disease (angioma) can be followed and monitored by repeated studies, after treatment with various modalities (ie, cryotherapy, diathermy, irradiation, laser photocoagulation). It is common to see new angiomas appearing or growing in the region of treated angiomas.
    • Color Doppler sonography provides a simultaneous morphologic and vascular image of the disease entity, enabling diagnosis and monitoring the effectiveness of treatment.
    • Ocular color Doppler sonography is a safe, noninvasive, relatively inexpensive investigative modality in diagnostic ophthalmology.
  • Optical coherence tomography (OCT), higher definition imaging systems with angiography, and neuroimaging advances have made von Hippel-Lindau disease more visible, thus allowing early interventions and effective outcomes.

Other Tests

  • Genetic study analysis

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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