TIMP3 mutations cause Sorby's fundus dystrophy, a disease, where choroidal vessel integrity is affected; SOX18 inactivation leads to lymphedema-distichiasis syndrome, with clinical signs of edema and abnormal morphology of capillaries and arterioles and FLT4 mutations cause Nonne-Milroy lymphedema (for review see [81]). The gene discussed is FLT4; the disease is Lymphedema - distichiasis.