Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease.

How genetic defects trigger the molecular changes that cause late-onset disease is important for understanding disease progression and therapeutic development. Fuchs' endothelial corneal dystrophy (FECD) is an RNA-mediated disease caused by a trinucleotide CTG expansion in an intron within the TCF4 gene. The mutant intronic CUG RNA is present at one-two copies per cell, posing a challenge to understand how a rare RNA can cause disease.

Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.

Purpose: To describe 2 cases of congenital corneal endothelial edema resulting from novel de novo mutations.

Methods: Case A patient was a 15-month-old white child and case B patient was a 3-year-old Hispanic child presenting with bilateral cloudy corneas since birth. Clinicopathologic findings are presented.

Case report: ophthalmomyiasis externa in Dallas County, Texas.

Ophthalmomyiasis externa is an uncommon condition in North America. If not recognized and managed accordingly, it can be complicated by the potentially fatal condition ophthalmomyiasis interna. Ophthalmomyiasis externa is mainly caused by the sheep bot fly Oestrus ovis; thus, it is more common in farming communities.