HEREDITARY ENDOTHELIOPATHY WITH RETINOPATHY, NEPHROPATHY, AND STROKE (HERNS)

We describe a Chinese American family with a hereditary syndrome consi sting of retinopathy, nephropathy, and stroke, affecting 11 members sp anning three generations. Ophthalmologic evaluations revealed macular edema with capillary dropout and perifoveal microangiopathic telangiec tases. Several members had renal abnormalities with proteinuria and he maturia. Initial manifestations were visual impairment and renal dysfu nction; neurologic deficits occurred in the third or fourth decade of life. Symptoms included migraine-like headache, psychiatric disturbanc e dysarthria, hemiparesis, and apraxia. Neuroimaging consistently demo nstrated contrast-enhancing subcortical lesions with surrounding edema . Ultrastructural studies showed distinctive multilaminated vascular b asement membranes in the brain and in other tissues, including tile ki dney, stomach, appendix, omentum, and skin. Genetic analysis ruled out linkage to the CADASIL locus on chromosome 19. Distinct from CADASIL, hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is an autosomal dominant multi-infarct syndrome with systemic involvement.