Adult-Onset Presentations of Retinopathy Associated With Short Telomere Syndromes

Purpose: To describe the association between short telomere syndrome and exudative retinopathies in adults. Methods: This case series compared the presentation, course of treatment, and visual outcomes of 2 patients with adult-onset retinopathy associated with short telomere syndrome. Results: In Case 1, a 53-year-old man initially presented with bilateral retinal telangiectasias and a preretinal hemorrhage in the left eye, which was followed by multiple vitreous hemorrhages. In the subsequent 15 years, the patient was diagnosed with pulmonary fibrosis, liver cirrhosis, and an RTEL1 gene mutation, consistent with short telomere syndrome. In Case 2, a previously asymptomatic 26-year-old man with paternally inherited short telomere syndrome (TERC gene mutation) presented with floaters, bilateral peripheral retinal capillary nonperfusion, and an aneurysmal lesion with surrounding exudation. Conclusions: Short telomere syndromes, with systemic features that can be life-threatening, can manifest initially in adulthood with retinal telangiectasia, aneurysmal lesions, exudation, or peripheral retinal capillary nonperfusion, preceding systemic manifestations. Because the systemic manifestations of retinal telangiectasia and peripheral retinal capillary nonperfusion are progressive and can be life-threatening, recognizing these findings in adults with retinal telangiectasia is crucial.