A Case of TREX1-Associated Retinal Vasculopathy with Cerebral Leukodystrophy
Author:
Funder
Research to Prevent Blindness
Publisher
Elsevier BV
Subject
Ophthalmology
Reference7 articles.
1. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Stam;Brain,2016
2. TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy;Difrancesco;Neurol Sci,2015
3. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3;Ophoff;Am J Hum Genet,2001
4. Patients with retinal vasculitis rarely suffer from systemic vasculitis;Rosenbaum;Semin Arthritis Rheum,2012
5. Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 are associated with systemic lupus erythematosus;Lee-kirsch;Nat Genet,2007
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2. TREX1 cytosolic DNA degradation correlates with autoimmune disease and cancer immunity;Clinical and Experimental Immunology;2023-02-06
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