Korean Journal of Ophthalmology  2012;26(4):316-318

doi:10.3341/kjo.2012.26.4.316

Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism.

Jun Ho CHOI 1 ; Youn Joo CHOI ; So Young KIM

Affiliations

+expand

Keywords

Retinal dystrophies; Trisomy 14; Trisomy 14 mosaicism

Country

Republic of Korea

Language

English

Abstract

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.