Lens opacities in Bloom syndrome: Case report and review of the literature

Cefle K., Ozturk Ş., Gozum N., Duman N., Mantar F., Guler K., ...Daha Fazla

OPHTHALMIC GENETICS, cilt.28, sa.3, ss.175-178, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1080/13816810701389685
  • Dergi Adı: OPHTHALMIC GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.175-178
  • Anahtar Kelimeler: Bloom syndrome, lens, cataract, RECQ HELICASES, YOUNG MAN, ERYTHEMA, GENE
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.