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Ocular anomalies in an infant with Klinefelter Syndrome

Alexander T Juhn1, Naeem U Nabi, Alex V Levin

  • 1Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA.

Ophthalmic Genetics
|April 11, 2012
PubMed

Insights

Klinefelter syndrome, a genetic condition in males, can present with rare ocular issues. This case highlights a unique combination of microphthalmia, cataracts, and malformed pupils in an infant diagnosed with this syndrome.

Area of Science:

  • Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • Klinefelter syndrome (47,XXY) is a genetic condition in males characterized by specific physical traits.
  • Ocular abnormalities are infrequently reported in individuals with Klinefelter syndrome.
  • Early diagnosis and comprehensive evaluation are crucial for managing associated health conditions.

Observation:

  • A 2-month-old infant diagnosed with Klinefelter syndrome presented with significant ocular abnormalities.
  • The infant exhibited a rare combination of microphthalmia, cataracts, and malformed pupils.
  • This constellation of findings is not typically associated with Klinefelter syndrome.

Findings:

  • The case report details a unique presentation of ocular anomalies in an infant with Klinefelter syndrome.
  • Microphthalmia, cataracts, and malformed pupils were observed in the affected infant.
  • This presentation expands the known spectrum of ocular manifestations in Klinefelter syndrome.

Implications:

  • This case underscores the importance of thorough ophthalmological examinations in infants diagnosed with Klinefelter syndrome.
  • Recognizing rare ocular associations can lead to earlier intervention and improved visual outcomes.
  • Further research may elucidate the genetic or developmental links between Klinefelter syndrome and specific ocular malformations.

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