© 2004 BMJ Publishing Group Ltd
SCIENTIFIC REPORT
Bloom syndrome: multiple retinopathies in a chromosome breakage disorder
Department of Ophthalmology, Beckman Vision Center, University of California San Francisco Medical School, San Francisco, CA, USA
Correspondence to:
Correspondence to:
Robert B Bhisitkul
MD, PhD, Department of Ophthalmology, University of California San Francisco, 10 Kirkham Street, K301, San Francisco, CA 94143, USA; bhisit{at}itsa.ucsf.edu
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.
Keywords: Bloom syndrome
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