Cerebro-Retinal Vasculopathy COL4A1 and and Asociated Diseases

Retinal arteriolar tortuosities is a hereditary disease of small vessels in the retina. It can sometimes cause recurrent retinal hemorrhage. In some families, the syndrome is associated with small vessels disease of the brain causing abnormalities in white matter (leukoencephalopathy), formation of small cavities, bleeds or atrophy in one hemisphere. The association of retinal arteriolar tortuosities with these cerebral abnormalities can be due to mutations of the COl4A1 gene.