TY - JOUR T1 - Bloom syndrome: multiple retinopathies in a chromosome breakage disorder JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 354 LP - 357 DO - 10.1136/bjo.2002.011643 VL - 88 IS - 3 AU - R B Bhisitkul AU - M Rizen Y1 - 2004/03/01 UR - http://bjo.bmj.com/content/88/3/354.abstract N2 - 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. ER -