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Ophthalmology · Uvea: coloboma
Sample itemA child has a keyhole-shaped pupil with the defect located inferonasally. What is the embryological cause?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Incomplete closure of the embryonic fissure
Typical colobomas lie inferonasally because the embryonic fissure closes there last. They may involve iris, choroid and optic disc, and are associated with CHARGE syndrome.
Option by option
A. Persistent hyaloid artery
Persistent hyaloid artery gives a Mittendorf dot or Bergmeister papilla.
B. Intrauterine rubella
Rubella causes cataract and retinopathy.
C. Incomplete closure of the embryonic fissure (correct)
Correct. Failed fissure closure gives typical colobomas.
D. Failure of the lens vesicle to form
Failure of lens vesicle formation causes aphakia.
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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