Korean J Ophthalmol.  2012 Aug;26(4):316-318. 10.3341/kjo.2012.26.4.316.

Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism

  • 1Department of Ophthalmology, Soonchunhyang University College of Medicine, Seoul, Korea.
  • 2Department of Ophthalmology, Soonchunhyang University Cheonan Hospital, Cheonan, Korea. ophdrkim@schmc.ac.kr


Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.


Retinal dystrophies; Trisomy 14; Trisomy 14 mosaicism
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