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Ophthalmology · Conjunctiva and cornea: macular corneal dystrophy
Sample itemA 20-year-old has progressive bilateral corneal clouding that extends right out to the limbus, with diffuse haze between grey-white spots. His parents are unaffected and the abnormal stromal material stains with Alcian blue and colloidal iron. Which dystrophy is this?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Macular dystrophy
Macular dystrophy is the only common stromal dystrophy inherited as an autosomal recessive trait. It deposits abnormal glycosaminoglycan (keratan sulphate) that stains with Alcian blue and colloidal iron, and haze involves the whole stroma up to the limbus.
Option by option
A. Granular dystrophy
Granular dystrophy is autosomal dominant, stains with Masson trichrome and has clear stroma between discrete opacities.
B. Lattice dystrophy
Lattice dystrophy is autosomal dominant with amyloid that stains with Congo red.
C. Reis-Bucklers dystrophy
Reis-Bucklers dystrophy is an autosomal dominant disease of Bowman's layer, not a recessive stromal dystrophy.
D. Macular dystrophy (correct)
Correct. Recessive inheritance and glycosaminoglycan staining with diffuse haze to the limbus identify macular dystrophy.
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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