Retinopathy in Dyskeratosis Congenita and Related Telomere Biology Disorders: Short Telomere-Associated Retinopathy...

Dyskeratosis congenita and related telomere biology disorders (TBDs) are rare hereditary conditions caused by genetic impairments of telomere maintenance. To our knowledge, we present the largest study to date describing the vitreoretinopathy findings in TBDs and propose a new reflective terminology for the retinopathy.

This is a multicenter cross-sectional study describing the vitreoretinal findings of index patients and their affected family members with TBDs.

The study included 44 eyes from 22 patients with TBDs.

All participants underwent comprehensive ophthalmic examinations and imaging with widefield fluorescein angiography (WF-FA).

The study aimed to quantify the prevalence and describe the characteristics of this rare associated vitreoretinopathy in patients with TBDs.

A total of 44 eyes from 22 patients were included (59.1% men). Eighteen (81.8%) patients were asymptomatic and found to have ophthalmic findings during screening examinations. Eleven patients had inherited mutations, 5 were de novo mutations, and 6 patients having unknown inheritance patterns. Anterior segment findings included 2 patients (9.1%) with blepharitis, 1 (4.5%) with iris atrophy, and 1 (4.5%) with iritis. For posterior segment findings, all eyes had some combination of peripheral nonperfusion (100%), microaneurysmal changes (63.6%), telangiectasias (54.5%), fluorescein leakage (54.5%), sclerotic vessels (40.1%), retinal hemorrhages (36.3%), exudates (27.3%), retinal neovascularization (13.6%), and tractional retinal detachment (9.1%). We propose a staging system and discuss management strategies, including laser photocoagulation as the primary treatment, with adjunctive anti-VEGF agents for vascularly active eyes and vitreoretinal surgery for vitreous hemorrhage and retinal detachment.

Contrary to prior assumptions, the retinovascular abnormalities in patients with TBDs, including dyskeratosis congenita, were universal in our cohort. Patients with retinopathy have been termed Revesz syndrome until now, but with the advent of WF-FA, we show that the retinopathy is likely more prevalent than previously thought. We propose that these findings be termed short telomere-associated retinopathy to reflect the underlying systemic pathophysiology. Widefield fluorescein angiography facilitates diagnosis and management, with laser photocoagulation as the mainstay of treatment. Anti-VEGF and vitreoretinal surgery may be required depending on disease activity and severity.

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