Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): clinical features. This is caused by mutations in the TREX1 gene.
Genetics
- This is caused by mutations in the TREX1 gene
- The transmission is autosomal dominant
TREX1 mutation associated disorders
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Pathology
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Neurological features
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Ophthalmologic features
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Systemic features
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Differential diagnosis
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Brain magnetic resonance imaging (MRI): features
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Treatment
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Synonyms
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References
- Mateen FJ, Krecke K, Younge BR, et al. Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. Neurology 2010; 75:1211-1213.
- Stam AH, Kothari PH, Shaikh A, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain 2016; pii: aww217 (Epub ahead of print).
- Dhamija R, Schiff D, Lopes MB, Jen JC, Lin DD, Worrall BB. Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy. Neurology 2015; 85:1633-1634.
- Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007; 39:1068-1070.
- Haaxma CA, Crow YJ, van Steensel MA, et al. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. Am J Med Genet A 2010; 152A:2612-2617.
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