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Ophthalmology · Lens
Sample itemA tall child with intellectual disability and a history of a thromboembolic event is found to have a lens displaced downward. What is the most likely diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Homocystinuria
Ectopia lentis in homocystinuria is usually downward and nasal, and the disease also causes marfanoid habitus, intellectual impairment and thromboembolism. In Marfan syndrome the lens is usually displaced upward and temporally with normal intelligence and no thrombotic tendency.
Option by option
A. Neurofibromatosis type 1
Neurofibromatosis type 1 causes Lisch nodules and optic glioma, not lens dislocation.
B. Marfan syndrome
Marfan syndrome typically gives upward lens displacement without intellectual disability or thrombosis.
C. Homocystinuria (correct)
Correct. Downward lens dislocation with thrombosis and intellectual disability points to homocystinuria.
D. Alport syndrome
Alport syndrome causes anterior lenticonus with nephritis and deafness, not ectopia lentis with thrombosis.
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.