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Ophthalmology · Retina: choroidal haemangioma
Sample itemA child with a port-wine stain over the face has an orange-red choroidal mass and glaucoma in the ipsilateral eye. Which syndrome is this?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Sturge-Weber syndrome
Sturge-Weber syndrome has a facial port-wine stain along the trigeminal territory, leptomeningeal angioma and diffuse choroidal haemangioma, with glaucoma. Von Hippel-Lindau features retinal capillary haemangioblastoma.
Option by option
A. Neurofibromatosis type 1
NF1 has Lisch nodules and optic glioma.
B. Tuberous sclerosis
Tuberous sclerosis has retinal astrocytic hamartoma.
C. Sturge-Weber syndrome (correct)
Correct. Port-wine stain with choroidal haemangioma and glaucoma fits.
D. Von Hippel-Lindau disease
VHL has retinal haemangioblastomas.
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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