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von Hippel-Lindau disease.
A D Singh1, C L Shields, J A Shields
1Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Survey of Ophthalmology
|October 2, 2001
Summary
Von Hippel-Lindau (VHL) disease, an autosomal dominant disorder, presents with retinal capillary hemangioma as its most common sign. Early detection and genetic testing improve life expectancy for affected individuals.
Area of Science:
- Genetics
- Ophthalmology
- Oncology
Background:
- Von Hippel-Lindau (VHL) disease is a genetic disorder with significant clinical manifestations.
- Retinal capillary hemangioma is the most frequent VHL disease presentation, necessitating ophthalmologist involvement.
- VHL disease affects approximately 1 in 40,000 live births, with an estimated 7000 cases in the USA.
Purpose of the Study:
- To review the ophthalmic manifestations of VHL disease.
- To discuss the treatment options for retinal capillary hemangioma.
- To outline the systemic findings associated with VHL disease.
Main Methods:
- Review of clinical and genetic aspects of VHL disease.
- Discussion of management strategies for retinal capillary hemangioma.
- Summary of extraocular lesions and surveillance protocols.
Main Results:
- Retinal capillary hemangioma is the most common manifestation.
- Various extraocular lesions include CNS hemangioma, renal cysts/carcinoma, and pancreatic tumors.
- Genetic testing for the VHL gene offers high accuracy for diagnosis.
Conclusions:
- Early detection and treatment of VHL disease manifestations improve patient outcomes.
- Ophthalmologists play a crucial role in managing VHL disease.
- Understanding the genetic basis and clinical spectrum is key for effective patient care.