Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. Issue 3 (20th February 2004)

• Record Type: Journal Article
• Authors: Bhisitkul, R B; Rizen, M
• Is Part Of: British journal of ophthalmology. Volume 88:Issue 3(2004)
• Page Start: 354
• Page End: 357
• Publication Date: 2004-02-20
• Subjects: Bloom syndrome; Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjo.2002.011643
• Languages: English
• ISSNs: 0007-1161

Abstract

Abstract : 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.