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Ophthalmology · Lens: lenticonus
Sample itemA boy with haematuria and sensorineural hearing loss has an oil-droplet reflex on retinoscopy from a conical anterior lens surface. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Alport syndrome with anterior lenticonus
Alport syndrome results from type IV collagen mutations and is classically associated with anterior lenticonus and renal and hearing disease. The oil-droplet reflex is seen on distant direct ophthalmoscopy.
Option by option
A. Lowe syndrome
Lowe syndrome has congenital cataract and renal tubular disease.
B. Wilson disease
Wilson disease gives sunflower cataract.
C. Alport syndrome with anterior lenticonus (correct)
Correct. Anterior lenticonus is characteristic.
D. Fabry disease
Fabry disease gives cornea verticillata.
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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