May 31, 2019 Conference
Dr. Emmanuel Chang, Retina & Vitreous of Texas
Dr. Aris Thanos, MEEI
Dr. Mrinali Patel, MEEI
Dr. Alison Ann Bertuch, Texas Children's Hospital
Dr. Michael Trese, Associated Retinal Consultants
Dr. Shizuo Mukai, MEEI
Dr. Suneet Agarwal, Boston Children's Hospital
Dr. Yoshihiro Yonekawa, Massachusetts Eye and Ear Infirmary
Purpose: Dyskeratosis congenita (DC) is a rare hereditary condition caused by genetic defects in telomere maintenance. Clinical findings consist of dysplastic nails, oral leukoplakia, bone marrow failure, and GI hemorrhage. Only recently have there been reports regarding an associated vitreoretinopathy.
Methods: This study is a multicenter retrospective case series of index patients and their affected family members with DC who underwent imaging with widefield fluorescein angiography (FA).
Results: The study included twenty-eight eyes from 14 patients with DC. All eyes had some combination of peripheral non-perfusion (100%), microaneurysmal changes (79%), telangiectasias (79%), fluorescein leakage (61%), sclerotic vessels (32%), retinal hemorrhage (32%), exudates (29%), neovascularization (21%), and vitreoretinal traction (18%).
Conclusion: Given the high prevalence of retinal findings in patients with DC, we recommend routine ophthalmic evaluation of these patients with widefield FA.