Abstract | Purpose: To describe a case of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) to enhance early recognition of this often-missed diagnosis. Methods: A case report is presented. Results: A 50-year-old woman with a history of Raynaud phenomenon, memory difficulties, and a family history of strokes was referred for evaluation of a bilateral, small-vessel, occlusive disease refractory to immunosuppressive therapy. An extensive workup for treatable causes was unrevealing. Fifteen months after presentation, brain imaging showed white-matter lesions and dystrophic calcification, which led to the discovery of a pathogenic variant in TREX1 and the diagnosis of RVCL-S. Conclusions: Retina specialists play a critical role in the timely diagnosis of RVCL-S. Although the findings in this condition can mimic those in other common retinal vascular disorders, there are key characteristics that increase the suspicion for RVCL-S. Early recognition might decrease unnecessary therapies and procedures.
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Authors | Odette M Houghton, Jonathan Carter, Radhika Dhamija |
Journal | Journal of vitreoretinal diseases
(J Vitreoretin Dis)
2023 Mar-Apr
Vol. 7
Issue 2
Pg. 171-177
ISSN: 2474-1272 [Electronic] United States |
PMID | 37006667
(Publication Type: Case Reports)
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Copyright | © The Author(s) 2022. |