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Ophthalmology · Retina: von Hippel-Lindau retinal lesion
Sample itemA 25-year-old has a round orange-red retinal tumour with dilated feeding vessels in the periphery. His father had a cerebellar tumour and renal cancer. Which additional lesion is characteristic of his disease?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Cerebellar haemangioblastoma
A retinal capillary haemangioblastoma with large feeding and draining vessels is a feature of von Hippel-Lindau disease. The same gene defect causes cerebellar and spinal haemangioblastomas, renal cell carcinoma and phaeochromocytoma. Early retinal lesions are treated with laser or cryotherapy.
Option by option
A. Port-wine stain of the face
A port-wine stain with choroidal haemangioma belongs to Sturge-Weber syndrome.
B. Cutaneous neurofibromas
Cutaneous neurofibromas belong to neurofibromatosis type 1.
C. Facial angiofibromas
Facial angiofibromas belong to tuberous sclerosis.
D. Cerebellar haemangioblastoma (correct)
Correct. Cerebellar haemangioblastoma accompanies the retinal tumours in von Hippel-Lindau disease.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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