Article detail · 2007
Lens Opacities in Bloom Syndrome: Case Report and Review of the Literature
- Year
- 2007
- Type
- article
Data source split
- YÖKSİS YÖKSİS article record
- YÖKSİS venue Ophthalmic Genetics
- Catalog match (ISSN) Ophthalmic Genetics
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
English (OpenAlex)
Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop various malignancies. The greatly increased frequency of sister chromatid exchanges (reciprocal exchange of homologous segments between the two sister chromatids of a chromosome) is regarded as pathognomonic for BS. We describe an 18-year old girl who presented with short stature. She was diagnosed with BS based on an extremely increased frequency of sister chromatid exchanges. Ophthalmological examination revealed mild lens opacities bilaterally, which, to our knowledge, has not been previously reported to be associated with BS.
Topics
- DNA Repair Mechanisms
- Ocular Disorders and Treatments
- Genomic variations and chromosomal abnormalities
Primary topic DNA Repair Mechanisms