Bloom syndrome: multiple retinopathies in a chromosome breakage disorder.

  title={Bloom syndrome: multiple retinopathies in a chromosome breakage disorder.},
  author={Robert B. Bhisitkul and Michael Rizen},
  journal={The British journal of ophthalmology},
  volume={88 3},
AIM To describe multiple retinal abnormalities in a patient with Bloom syndrome, including early macular drusen, diabetic retinopathy, and the onset of leukaemic retinopathy. METHODS Clinical data were collected over 1 year of follow up, and ocular abnormalities in Bloom syndrome were reviewed from the literature. RESULTS A 39 year old man with a rare autosomal recessive "chromosome breakage" syndrome was followed. A variety of ocular findings have been reported in Bloom syndrome; this… CONTINUE READING


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