"T2/FLAIR: hyperintense"
"DWI/ADC: may or may not have restricted diffusion"
"T1 C+ (Gd): may or may not have nodular or rim enhancement"
"T2/FLAIR: hyperintense"
"DWI/ADC: may not demonstrate high diffusion signal or restricted diffusion"
"GRE/SWI: may have associated punctate regions of susceptibility artifact, which may represent cerebral microhaemorrhages or calcifications"
"T1 C+ (Gd): typically demonstrate ring enhancement"
"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S or RVCLSM) is an autosomal dominant microvasculopathy of the brain, retina, and other organ systems."
"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S or RVCLSM) is an autosomal dominant microvasculopathy of the brain, retina, and other organ systems."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"RVCL-S is very rare, and less than 50 families have been reported as being affected in the literature 11. However, the condition may be under-diagnosed 11."
"RVCL-S is an autosomal dominant disorder caused by C-terminal frameshift mutations in the three prime repair exonuclease 1 (TREX1) gene, located on the short arm of chromosome 3 1,2,6,7. The TREX1 gene normally encodes for a DNA exonuclease that is involved in preventing innate immune activation 1,2,6,7. Furthermore, the TREX1 gene also plays a role in protein glycosylation 9. It is unclear which of these functions (or perhaps both) is important to lose in the development of RVCL-S."
"RVCL-S is an autosomal dominant disorder caused by C-terminal frameshift mutations in the three prime repair exonuclease 1 (TREX1) gene, located on the short arm of chromosome 3 1,2,6,7. The TREX1 gene normally encodes for a DNA exonuclease that is involved in preventing innate immune activation 1,2,6,7. Furthermore, the TREX1 gene also plays a role in protein glycosylation 9. It is unclear which of these functions (or perhaps both) is important to lose in the development of RVCL-S."
"RVCL-S was coined by Anine H Stam and colleagues in their 2016 seminal paper 1, thereby uniting multiple previously separate pathologies."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"Raynaud phenomenon 1,2"
"RVCL-S is an autosomal dominant disorder caused by C-terminal frameshift mutations in the three prime repair exonuclease 1 (TREX1) gene, located on the short arm of chromosome 3 1,2,6,7. The TREX1 gene normally encodes for a DNA exonuclease that is involved in preventing innate immune activation 1,2,6,7. Furthermore, the TREX1 gene also plays a role in protein glycosylation 9. It is unclear which of these functions (or perhaps both) is important to lose in the development of RVCL-S."
"Importantly, these mutations in TREX1 are distinct from those in the same gene that cause Aicardi-Goutiéres syndrome and some cases of hereditary systemic lupus erythematosus 8."
"DWI/ADC: may or may not have restricted diffusion"
"T1 C+ (Gd): may or may not have nodular or rim enhancement"
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"CNS features: most commonly focal neurological deficits, but cognitive impairment, psychiatric disease, and migraine without aura are also common, seizures may also uncommonly occur 1,2,4-6"
"Affected tissue, such as cerebral white matter, demonstrate ischaemia, necrosis, and dystrophic calcifications, with accompanying vasculopathy 1,7. This vasculopathy, affecting primarily small to medium sized vessels, manifests as fibrinoid vascular necrosis or thickened hyalinised vessels, notably without evidence of vasculitis 1,7. In the brain, the leptomeninges, extraparenchymal vasculature, and the cortical grey matter vessels are typically spared 1,7."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"RVCL-S encompasses several previously described conditions 1,2, including cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HAS), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), and retinal vasculopathy with cerebral leukodystrophy (RVCL) 3-6."
"There is no disease-modifying therapy available 11. Immunosuppressive strategies have been trialed without definite benefit 11. Typically, the disease has a progressive course leading to death between ages 50 and 60, which corresponds to approximately a decade after symptom onset 1,2,6."