Prenatal magnetic resonance imaging of optic nerve head coloboma

Andrea Righini, Laura Avagliano, Chiara Doneda, Lorenzo Pinelli, Cecilia Parazzini, Mariangela Rustico, Fabio Triulzi, Gaetano Bulfamante

Research output: Contribution to journalArticlepeer-review


Objective: Congenital optic nerve head coloboma represents an important cause of childhood visual impairment and blindness; it can be isolated or, more often, it can be associated with several syndromes. Ultrasound has limitations in depicting the posterior aspect of the fetal eye globe, so prenatal information about ocular coloboma are very scarce. The purpose of this paper was to report prenatal magnetic resonance (MR) imaging features of optic nerve head coloboma. Methods: MR imaging at 1.5 Tesla was based on multiplanar single-shot fast spin-echo T2-weighted 3-4 mm thick contiguous sections. Results: Three fetal cases with optic nerve head coloboma and one with microphthalmos and colobomatous cyst are reported. Coloboma appeared as a focal bulging of ocular globe profile at the insertion of optic nerve. Conclusion: Prenatal MR imaging allowed an accurate diagnosis to be obtained.

Original languageEnglish
Pages (from-to)242-246
Number of pages5
JournalPrenatal Diagnosis
Issue number3
Publication statusPublished - Mar 2008


  • Coloboma
  • Fetus
  • Magnetic resonance imaging
  • Microphthalmos
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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