SUSPECTED FUCHS’ ENDOTHELIAL CORNEAL DYSTROPHY IN A NEONATE WITH MYOTONIC DYSTROPHY TYPE 1

Abstract

Purpose: To report a novel case of FECD in a neonate with myotonic dystrophy type 1. Observations: A 32-week neonate admitted to the NICU (Neonatal Intensive Care Unit). Patient was suspected to have myotonic dystrophy, which was confirmed with DMPK PCR (Polymerase Chain Reaction) and Southern Blot Analysis. Ocular evaluation revealed iris transillumination, bilateral hazy cornea, intraocular pressure (IOP) of 18mmHg for right eye and 22mmHg for left eye, and the centre cornea thickness (CCT) was 862 microns and 887 microns for right and left eye, respectively. The thick and hazy corneas were suggestive of Fuchs’ endothelial corneal dystrophy (FECD). Conclusions: This may be the first reported case of FECD in neonate with DM1. Knowledge that FECD may present in neonates with DM1 allows for earlier identification and treatment, resulting in decreased vision loss from FECD.