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Batten’s disease presenting as visual loss in twins
  1. Amun Sachdev,
  2. Stephen Scotcher
  1. Department of Ophthalmology, Hereford County Hospital, Wye Valley NHS Trust, Hereford, UK
  1. Correspondence to Dr Amun Sachdev, Department of Ophthalmology, Hereford County Hospital, Wye Valley NHS Trust, Hereford HR1 2BN, UK; amun.sachdev{at}doctors.org.uk

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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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