New Insights in Vanishing White Matter Disease: Isolated Bilateral Optic Neuropathy in Adult Onset Disease

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Vanishing white matter disease (VWMD) is a rare disease affecting cerebral white matter. The adult form is even rarer and manifests with motor symptoms, behavioral problems, and dementia. There is no treatment and progression is inevitable. We describe a case with atypical manifestations and an unusual course.


Description of a 42-year-old man with VWMD complaining of progressive visual loss in the right eye.


The patient's visual acuity was 20/60, right eye, and 20/25, left eye, with pale optic nerves bilaterally. MRI showed atrophy of the corpus callosum, diffuse rarefaction of cerebral white matter including the anterior and posterior visual pathways.


Our patient had no further symptoms besides loss of visual acuity, which is rare in patients with VWMD of the same age and genetic mutation.

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