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- Title
A 44-year-old man with eye, kidney, and brain dysfunction.
- Authors
Vodopivec, Ivana; Oakley, Derek H.; Perugino, Cory A.; Venna, Nagagopal; Hedley‐Whyte, E. Tessa; Stone, John H.
- Abstract
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of TREX1 (3-prime repair exonuclease-1). The phenotypic expressions range from isolated retinal involvement to varying degrees of retinopathy, cerebral infarction with calcium depositions, nephropathy, and hepatopathy. We report a case of RVCL caused by a novel TREX1 mutation. This patient's multisystem presentation, retinal involvement interpreted as "retinal vasculitis," and improvement of neuroimaging abnormalities with dexamethasone led to the accepted diagnosis of a rheumatologic disorder resembling Behçet disease. Clinicians should consider RVCL in any patient with retinal capillary obliterations associated with tumefactive brain lesions or nephropathy.
- Publication
Annals of Neurology, 2016, Vol 79, Issue 4, p507
- ISSN
0364-5134
- Publication type
journal article
- DOI
10.1002/ana.24583