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Ophthalmology · Neuro-ophthalmology and pupils: septo-optic dysplasia
Sample itemA newborn has small optic discs with a double-ring sign, pendular nystagmus and later develops hypoglycaemia and short stature. MRI shows absent septum pellucidum. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Septo-optic dysplasia
Septo-optic dysplasia combines optic nerve hypoplasia, midline brain defects such as absent septum pellucidum, and pituitary hormone deficiency. Endocrine screening is essential because hypoglycaemia from cortisol or growth hormone deficiency can be dangerous. The double-ring sign marks the hypoplastic disc.
Option by option
A. Leber congenital amaurosis
Leber congenital amaurosis has a flat ERG with normal discs and no pituitary deficiency.
B. Morning glory disc anomaly
Morning glory anomaly shows a funnel-shaped disc with a central glial tuft and not small discs.
C. Optic nerve coloboma
Optic nerve coloboma shows an inferior excavation and is not tied to absent septum.
D. Septo-optic dysplasia (correct)
Correct. Optic nerve hypoplasia with midline brain defects and pituitary deficiency is septo-optic dysplasia.
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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