<unk>  (RVCL or RVCL-S, also previously known as<unk><unk>  with<unk>  Leukodystrophy, RVCL; or Cerebroretinal<unk> , CRV; or Hereditary Vascular Retinopathy, HVR; or Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke, HERNS) is an inherited condition resulting from a frameshift mutation in the C-terminal region of the TREX1 gene. This disease affects small blood vessels, leading to damage of multiple organs including but not limited to the<unk> and the white matter of the central nervous system. Patients with RVCL develop vision loss, brain lesions, strokes, brain atrophy, and dementia. Patients with RVCL also exhibit other organ involvement, including kidney, liver, gastrointestinal tract, thyroid, and bone disease. Symptoms of RVCL commonly begin between ages 40 and 50, although sometimes disease onset occurs earlier or later. The overall prognosis is poor, and death can sometimes occur within 5 or 10 years of the first symptoms appearing, although patients sometimes live about 20 years after initial symptoms. Clinical trials are underway, as are efforts to develop personalized medicines for patients with RVCL.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Multifocal choroiditis and panuveitis
Diffuse unilateral subacute neuroretinitis
Cerebroretinal microangiopathy with calcifications and cysts
Uveitis–Glaucoma–Hyphema syndrome
Chronic relapsing inflammatory optic neuropathy
Acute posterior multifocal placoid pigment epitheliopathy
Late congenital syphilitic oculopathy