Bilateral congenital cataracts in an infant with Klinefelter syndrome

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Nur B., Altiok-Clark O., İlhan H. D., Sayar E., Yucel I., Mıhçı E.

TURKISH JOURNAL OF PEDIATRICS, cilt.56, sa.5, ss.546-550, 2014 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 5
  • Basım Tarihi: 2014
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.546-550
  • Anahtar Kelimeler: Klinefelter syndrome, congenital cataract, karyotype analysis, infant, 49,XXXXY SYNDROME, OCULAR ANOMALIES
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Congenital cataract is one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of approximately 2.5: 10,000 infants under the age of 1 year. Congenital cataract can be observed with certain chromosomal abnormalities, such as trisomies, deletions, translocations and Turner syndrome. In Klinefelter syndrome, however, ocular complications and cataract are not commonly encountered, so reports in the literature are very rare.