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Hereditary endotheliopathy, retinopathy, nephropathy, and stroke

Other Names for this Disease
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What are the signs and symptoms of hereditary endotheliopathy with retinopathy, nephropathy, and stroke?

Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30’s or 40’s. Early symptoms, which may differ among individuals, may include depression, anxiety, paranoia, decreased central vision, and/or blind spots. Within the next 4 to 10 years affected individuals reportedly experience focal neurologic deficits that may have a sudden stroke-like onset. The stroke-like episodes may last several days. Headache and seizures may also occur. As the condition progresses, symptoms may include speech impairment, partial paralysis, and/or apraxia. Other symptoms of advanced disease include loss of vision as well as physical and mental skills. Kidney failure, hematuria (blood in the urine) and proteinuria has been described in some affected individuals.[1][2][3][4]

Common to all affected individuals is the presence of cerebral microvasculopathic lesions. Some individuals go on to develop mass lesions, predominantly involving the right frontal lobe. These lesions are often mistaken for tumors.[4]
Last updated: 10/9/2013

  1. Dichgans M, Meschia JF. Cerebrovascular disorders. In: Rimoin DL et al. Principle and Practice of Medical Genetics, 5th ed. Philadelphia, PA: Churchill Livingston Elsevier; 2002;
  2. Jen JC, Baloh RW. Herediatry endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In: Bogousslavsky J, Caplan L., eds. Uncommon Causes of Stroke. 2nd ed. Cambridge University Press; 2001;
  3. Seifried C, Sitzer M, Jen J, Auburer G. HERNS. A rare, hereditary, multisystem disease with cerebral microangiopathy. Nervenartz. 2005;
  4. Cohn AC, Kotschet K, Veitch A, Delatycki MB, McCombe MF. Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. Clin Experiment Ophthalmol. April 2005; 33(2):181-183.