%0 Journal Article %A R B Bhisitkul %A M Rizen %T Bloom syndrome: multiple retinopathies in a chromosome breakage disorder %D 2004 %R 10.1136/bjo.2002.011643 %J British Journal of Ophthalmology %P 354-357 %V 88 %N 3 %X 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 patient had hard drusen in both maculae, non-proliferative diabetic retinopathy, and haemorrhagic retinopathy as a herald of acute lymphocytic leukaemia. Conclusions: Bloom syndrome is a rare disorder of genomic instability, in which a variety of ocular abnormalities have been found. Described here are multiple retinal manifestations arising from characteristic systemic associations of diabetes mellitus and leukaemia, as well as macular hard drusen. %U https://bjo.bmj.com/content/bjophthalmol/88/3/354.full.pdf