Retinal vasculopathy with cerebral leukodystrophy

Definition:

Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal and cerebral dysfunction. Death occurs in most cases within 10 years of the first symptoms appearing. The disease-causing mutations of TREX1 lead to truncation and abnormal localization of the 3'-5' exonuclease.

References:

[1]. Anna Richards, et al. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007 Sep;39(9):1068-70. [Content Brief]

[2]. Daniel B Stetson, et al. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell. 2008 Aug 22;134(4):587-98. [Content Brief]

[3]. Duane A Lehtinen, et al. The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. J Biol Chem. 2008 Nov 14;283(46):31649-56. [Content Brief]

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