Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism.
10.3341/kjo.2012.26.4.316
- Author:
Jun Ho CHOI
1
;
Youn Joo CHOI
;
So Young KIM
Author Information
1. Department of Ophthalmology, Soonchunhyang University College of Medicine, Seoul, Korea.
- Publication Type:Case Reports
- Keywords:
Retinal dystrophies;
Trisomy 14;
Trisomy 14 mosaicism
- MeSH:
Abnormalities, Multiple/genetics;
Chromosomes, Human, Pair 14;
Female;
Humans;
Infant, Newborn;
Mosaicism;
Retinal Diseases/*congenital/genetics;
*Trisomy
- From:Korean Journal of Ophthalmology
2012;26(4):316-318
- CountryRepublic 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.
