Microcornea and bilateral ectopia lentis in an infant: unusual severe ocular presentation of neonatal Marfan syndrome

J AAPOS. 2019 Apr;23(2):107-108. doi: 10.1016/j.jaapos.2018.09.004. Epub 2018 Nov 14.

Abstract

We present an unusual case of microcornea, bilateral spontaneous dislocation of lenses, and anomalous optic disks in a 7-week-old girl in whom a systemic diagnosis of Marfan syndrome had not yet been confirmed at presentation. The causes and differential diagnoses of this condition are discussed, and the literature on ocular manifestations of neonatal Marfan syndrome is reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Cornea / abnormalities*
  • Diagnosis, Differential
  • Ectopia Lentis / diagnosis
  • Ectopia Lentis / etiology*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Marfan Syndrome / complications*
  • Marfan Syndrome / diagnosis
  • Optic Disk / abnormalities