Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: Critical Role of Retina Specialists.
J Vitreoretin Dis
; 7(2): 171-177, 2023.
Article
en En
| MEDLINE
| ID: mdl-37006667
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.
TREX1; cerebroretinal vasculopathy; hereditary cerebral vasculopathy; hereditary endotheliopathy with retinopathy; inherited neurodegenerative disorder; nephropathy and stroke and hereditary vascular retinopathy; retinal vasculitis; retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; white-matter abnormalities
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
J Vitreoretin Dis
Año:
2023
Tipo del documento:
Article
País de afiliación:
Estados Unidos