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Ophthalmology · Nystagmus: types
Sample itemA child with absent iris pigment, foveal hypoplasia and fine pendular nystagmus has which diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Ocular albinism
Albinism causes iris transillumination, foveal hypoplasia, misrouting of optic nerve fibres and nystagmus. Vision is typically reduced to 6/60 or better and refractive correction helps.
Option by option
A. Leber amaurosis
Leber amaurosis has a flat ERG.
B. Retinitis pigmentosa
Retinitis pigmentosa has night blindness and bone spicules.
C. Ocular albinism (correct)
Correct. This constellation indicates albinism.
D. Aniridia
Aniridia shows absent iris and foveal hypoplasia but iris tissue is lacking altogether.
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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