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Br J Ophthalmol. 2004 Mar;88(3):354-7.

Bloom syndrome: multiple retinopathies in a chromosome breakage disorder.

Author information

  • 1Department of Ophthalmology, Beckman Vision Center, University of California San Francisco Medical School, San Francisco, CA 94143, USA. bhisit@itsa.ucsf.edu

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.

PMID:
14977768
[PubMed - indexed for MEDLINE]
PMCID:
PMC1772056
Free PMC Article

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