Literature DB >> 2817001

Hereditary retinal vasculopathy with cerebral white matter lesions.

D H Gutmann1, K H Fischbeck, R C Sergott.   

Abstract

We report on a syndrome of progressive visual loss and leukoencephalopathy affecting several relatives. Affected individuals had evidence of retinal vasculopathy on fluorescein angiogram and periventricular white matter lesions on brain magnetic resonance imaging. The clinical manifestations in this family suggest transmission of an autosomal dominant vasculopathy affecting both retinal and intracranial vessels.

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Year:  1989        PMID: 2817001     DOI: 10.1002/ajmg.1320340217

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

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7.  TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

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8.  Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy.

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9.  Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.

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  9 in total

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