Clinical and ocular pathological findings in Von Hippel-Lindau disease
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.
Chong, GT; Cummings, TJ; Mruthyunjaya, P; Richard, MJ
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