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: Robert B Bhisitkul MD, PhD, Department of Ophthalmology, University of California San Francisco, 10 Kirkham Street, K301, San Francisco, CA 94143, USA;
- Accepted 19 April 2003
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.
Supported by That Man May See Foundation.
The authors have no proprietary or commercial interests related to the manuscript.