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Von Hippel Lindau disease is a rare condition characterised by retinal and central nervous system haemangioblastomas. It is also associated with renal cell carcinoma, phaeochromocytoma, and renal, pancreatic, and epididymal cysts.
The disease usually presents with neurological symptoms and/or visual disturbance; angiomas if seen in the retina can often be treated in an attempt to prevent progression to retinal detachment.
We report a young girl with von Hippel Lindau disease whose initial presentation was with a total exudative retinal detachment.
A 14 year old girl presented to the eye casualty department with no perception of light in her left eye. She gave a 2 month history of gradual, painless loss of vision, but had delayed previously mentioning her symptoms.
Past ocular history was unremarkable; an optometrist visit a year previously was normal. She was otherwise well.
Slit lamp examination on the left …
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