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Clinical and ocular pathological findings in Von Hippel-Lindau disease

Publication ,  Journal Article
Chong, GT; Cummings, TJ; Mruthyunjaya, P; Richard, MJ
Published in: Clinical and Surgical Ophthalmology
June 1, 2009

Objectives: To report a patient with Von Hippel-Lindau (VHL) disease demonstrating classic ocular findings. Design'. Retrospective case report. Methods: Clinical and pathological findings. Main Outcome Measures: Clinical course and pathological findings. Results: Clinical and pathological analyses were diagnostic of VHL in a 44-year-old man. He first developed retinal hemangioblastomas and subsequently spinal hemangioblastomas as well as pancreatic, renal, and liver cysts. Unfortunately for this subject, he also developed renal cell carcinoma. Conclusion: Von Hippel-Lindau disease is an autosomal dominant genetic disorder that affects approximately 1 in 50000 individuals. Early recognition of the classic retinal findings of VHL could lead to an earlier diagnosis and be life saving.

Duke Scholars

Published In

Clinical and Surgical Ophthalmology

ISSN

1705-4842

Publication Date

June 1, 2009

Volume

27

Issue

6-7

Start / End Page

174 / 178

Related Subject Headings

  • Ophthalmology & Optometry
 

Citation

APA
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ICMJE
MLA
NLM
Chong, G. T., Cummings, T. J., Mruthyunjaya, P., & Richard, M. J. (2009). Clinical and ocular pathological findings in Von Hippel-Lindau disease. Clinical and Surgical Ophthalmology, 27(6–7), 174–178.
Chong, G. T., T. J. Cummings, P. Mruthyunjaya, and M. J. Richard. “Clinical and ocular pathological findings in Von Hippel-Lindau disease.” Clinical and Surgical Ophthalmology 27, no. 6–7 (June 1, 2009): 174–78.
Chong GT, Cummings TJ, Mruthyunjaya P, Richard MJ. Clinical and ocular pathological findings in Von Hippel-Lindau disease. Clinical and Surgical Ophthalmology. 2009 Jun 1;27(6–7):174–8.
Chong, G. T., et al. “Clinical and ocular pathological findings in Von Hippel-Lindau disease.” Clinical and Surgical Ophthalmology, vol. 27, no. 6–7, June 2009, pp. 174–78.
Chong GT, Cummings TJ, Mruthyunjaya P, Richard MJ. Clinical and ocular pathological findings in Von Hippel-Lindau disease. Clinical and Surgical Ophthalmology. 2009 Jun 1;27(6–7):174–178.

Published In

Clinical and Surgical Ophthalmology

ISSN

1705-4842

Publication Date

June 1, 2009

Volume

27

Issue

6-7

Start / End Page

174 / 178

Related Subject Headings

  • Ophthalmology & Optometry