Retinal Findings of a Unique RTEL1 Mutation in Dyskeratosis Congenita

Abstract

We describe the retinal manifestations of a patient with a unique mutation of the Regulator of telomere length 1 ( RTEL1) gene resulting in dyskeratosis congenita (DC), a rare, fatal, inherited disease. A 4-year-old boy with DC was referred for ophthalmology consult by his attending hematologist and underwent a complete ophthalmic examination, including wide-field fundus imaging and fluorescein angiography. The patient was found to have bilateral retinal vasculopathy and extensive microvascular abnormalities in addition to avascular regions in the temporal peripheral retina. He received multiple pan-retinal photocoagulation treatments in both eyes. Our case highlights the importance of ophthalmic screening and fluorescein angiography and the potential need for timely laser photocoagulation for sight-threatening retinopathy in patients with DC.