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Ophthalmology · Optic neuropathy: Leber hereditary
Sample itemA 22-year-old man has sequential painless central vision loss in both eyes with disc hyperaemia and peripapillary telangiectasia. How is this inherited?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Mitochondrial inheritance
Leber hereditary optic neuropathy follows maternal transmission of mtDNA mutations, commonly 11778, 3460 and 14484. It is much commoner in males, and idebenone is used.
Option by option
A. Mitochondrial inheritance (correct)
Correct. LHON is maternally inherited.
B. Autosomal recessive
It is not autosomal recessive.
C. X-linked recessive
LHON is not X-linked.
D. Autosomal dominant
Dominant optic atrophy is a separate nuclear condition.
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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