Unilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report

ABSTRACT

We report a case of a 25-year-old woman with unilateral Coats’-like disease. Her brother was previously diagnosed with an autosomal dominant form of dyskeratosis congenita. Genetic testing was performed by screening the TERC gene for mutations and identified heterozygosity for the n.68_124del mutation. Our case demonstrates that the exudative retinopathy seen in Coats’-like disease can be caused by mutations in a telomere-capping gene TERC as a part of the dyskeratosis congenita spectrum without other systemic involvement. This is an interesting case that illustrates that retinal Coats’-like involvement can be the first manifestation of dyskeratosis congenita.

KEYWORDS:

• Coats’-like disease
• coats plus syndrome
• dyskeratosis congenita
• retinal vasculopathy
• telomeres
• TERC gene