@article {Bhisitkul354, author = {R B Bhisitkul and M Rizen}, title = {Bloom syndrome: multiple retinopathies in a chromosome breakage disorder}, volume = {88}, number = {3}, pages = {354--357}, year = {2004}, doi = {10.1136/bjo.2002.011643}, publisher = {BMJ Publishing Group Ltd}, 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 {\textquotedblleft}chromosome breakage{\textquotedblright} 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.}, issn = {0007-1161}, URL = {https://bjo.bmj.com/content/88/3/354}, eprint = {https://bjo.bmj.com/content/88/3/354.full.pdf}, journal = {British Journal of Ophthalmology} }