Retinal vasculopathy and cerebral leukoencephalopathy is an autosomal dominant disorder caused by mutations of the TREX1 gene. It is a vasculopathy affecting small vessels. This disorder is not limited to cerebroretinal vessels but can also manifest systemically with renal dysfuntion and stroke.
1. |
Storimans CW et al. () A new autosomal dominant vascular retinopathy syndrome. |
2. |
Grand MG et al. (1988) Cerebroretinal vasculopathy. A new hereditary syndrome. |
3. |
Jen J et al. (1997) Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). |
4. |
Richards A et al. (2007) C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. |
5. |
Gutmann DH et al. (1989) Hereditary retinal vasculopathy with cerebral white matter lesions. |
6. |
Terwindt GM et al. (1998) Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. |
7. |
Weil S et al. (1999) Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. |
9. |
Siveke JT et al. (2003) Evidence for systemic manifestations in cerebroretinal vasculopathy. |
10. |
Cohn AC et al. (2005) Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. |
11. |
Mateen FJ et al. (2010) Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. |