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- W2140409263 abstract "To describe multiple retinal abnormalities in a patient with Bloom syndrome, including early macular drusen, diabetic retinopathy, and the onset of leukaemic retinopathy.Clinical data were collected over 1 year of follow up, and ocular abnormalities in Bloom syndrome were reviewed from the literature.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.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." @default.
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- W2140409263 date "2004-03-01" @default.
- W2140409263 modified "2023-10-10" @default.
- W2140409263 title "Bloom syndrome: multiple retinopathies in a chromosome breakage disorder" @default.
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- W2140409263 doi "https://doi.org/10.1136/bjo.2002.011643" @default.
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