Karen W Jeng-Miller, Celine Chaaya, Samir N Patel, Aristomenis Thanos, Emmanuel Y Chang, Mrinali P Gupta, Shizuo Mukai, Dean Eliott, Alison Ann Bertuch, Suneet Agarwal, Nimesh A Patel, Yoshihiro Yonekawa
Contrary to prior assumptions, the retinovascular abnormalities in patients with TBDs, including DC, 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 (STAR) to reflect the underlying systemic pathophysiology. WF-FA 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.
PURPOSE: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are rare hereditary conditions caused by genetic impairments of telomere maintenance. We present the largest study to date describing the vitreoretinopathy findings in TBDs and propose a new reflective terminology for the retinopathy.
DESIGN: This is a multicenter cross-sectional study describing the vitreoretinal findings of index patients and their affected family members with TBDs.
SUBJECTS: The study included forty-four eyes from 22 patients with TBDs.
METHODS: All participants underwent comprehensive ophthalmic examinations and imaging with widefield fluorescein angiography (WF-FA).
MAIN OUTCOME MEASURES: The study aimed to quantify the prevalence and describe the characteristics of this rare associated vitreoretinopathy in patients with TBDs.
RESULTS: A total of 44 eyes from 22 patients were included (59.1% males). 18 (81.8%) patients were asymptomatic and found to have ophthalmic findings during screening examinations. 11 patients (50%) had inherited mutations, 22.7% were de novo mutations, and six patients having unknown inheritance patterns. Anterior segment findings included two patients (9.1%) with blepharitis, one with iris atrophy (4.5%), and one with iritis (4.5%). For posterior segment findings, all eyes had some combination of peripheral non-perfusion (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.
CONCLUSION: Contrary to prior assumptions, the retinovascular abnormalities in patients with TBDs, including DC, 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 (STAR) to reflect the underlying systemic pathophysiology. WF-FA 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.