Bilateral Optic Nerve Colobomas in Infant with Tetraploidy

Kinley D. Beck, Clio A. Harper

Research output: Contribution to journalArticlepeer-review


Purpose:To describe the previously unreported ocular anomalies in the rare condition of tetraploidy.Methods:This study is a retrospective case report of a 23-day-old male infant with tetraploidy. RetCam fundus photography and neuroimaging were performed.Results:This 23-day-old male infant was born at full term and found to have tetraploidy with numerous congenital anomalies including bilateral optic nerve colobomas, left microphthalmia, vitreous hemorrhage, and septo-optic dysplasia.Conclusion:Infants with tetraploidy can present with ocular anomalies and while hospitalized should be examined by an ophthalmologist.

Original languageEnglish (US)
Pages (from-to)252-253
Number of pages2
JournalRetinal Cases and Brief Reports
Issue number3
StatePublished - Jan 1 2016
Externally publishedYes


  • optic nerve coloboma
  • retinal coloboma
  • tetraploidy

ASJC Scopus subject areas

  • Ophthalmology


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