46 Retinal vasculopathy with cerebral leukodystrophy (rvcl) is a rare, genetic condition that primarily affects the central nervous system. symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. death can sometimes occur within 10 years of the first symptoms appearing. rvcl is inherited in an autosomal dominant manner and is caused by mutations in the trex1 gene. treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause.rvcl is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (herns); cerebroretinal vasculopathy (crv); and hereditary vascular retinopathy (hvr)
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.