Bloom syndrome: multiple retinopathies in a chromosome breakage disorder
نویسندگان
چکیده
منابع مشابه
Bloom syndrome: multiple retinopathies in a chromosome breakage disorder.
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 breakag...
متن کاملSCIENTIFIC REPORT Bloom syndrome: multiple retinopathies in a chromosome breakage disorder
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 breakag...
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The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked recessive inheritance. In view of the latest molecular developments achieved in the other genomic instability syndromes, the potential functions of the X c...
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Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It h...
متن کاملNo increased chromosome breakage in three Bloom's syndrome heterozygotes.
The frequency of chromosome aberrations in the lymphocytes of three established heterozygotes for the Bloom's syndrome gene (ages 67, 57, 46) was compared to that in controls (ages 68, 67, 61, 46, 34). The main part of the study was done on coded slides. No difference was found between the heterozygotes and the control group, except for one control (aged 46) who had a significantly higher numbe...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2004
ISSN: 0007-1161
DOI: 10.1136/bjo.2002.011643