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Identical twin boys, aged 7, presented with difficulty seeing at school. Examination revealed bilateral reduced visual acuity (6/60 in one twin, 6/48 in the other) and bilateral maculopathy on funduscopy. Electrodiagnostic testing suggested an inner retinal problem, demonstrating an absent b wave and relatively normal a wave; rod-specific and flash-photopic electroretinograms (ERG) had an electronegative maximal response, cone-flicker ERG was reduced/delayed and pattern ERG was undetectable (figure 1). A diagnosis …
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