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Ophthalmology · Retina: retinal astrocytic hamartoma
Sample itemA 7-year-old with infantile spasms and hypomelanotic skin patches has a whitish, mulberry-like elevated lesion at the edge of the optic disc. Which lesion is this?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Retinal astrocytic hamartoma
Retinal astrocytic hamartomas are typical of tuberous sclerosis and appear as flat grey lesions or calcified mulberry-like nodules near the disc. They are usually stable and rarely threaten vision. Their presence supports the diagnosis in a child with seizures and skin signs.
Option by option
A. Congenital hypertrophy of the retinal pigment epithelium
Congenital hypertrophy of the pigment epithelium is a flat dark lesion without elevation or calcification.
B. Retinal astrocytic hamartoma (correct)
Correct. A calcified mulberry lesion at the disc in a child with seizures and skin patches is an astrocytic hamartoma of tuberous sclerosis.
C. Choroidal osteoma
Choroidal osteoma is a yellow-orange calcified choroidal tumour in young women, unrelated to this syndrome.
D. Retinal capillary haemangioblastoma
A capillary haemangioblastoma is orange-red with dilated vessels and belongs to 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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