Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: Critical Role of Retina Specialists.

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

SUBMITTER: Houghton OM 

PROVIDER: S-EPMC10037756 | biostudies-literature | 2023 Mar-Apr

REPOSITORIES: biostudies-literature