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PedAM

Pediatric Disease Annotations & Medicines




Disease encephalopathy
Phenotype C0029132|optic neuropathy
Sentences 4
PubMedID- 23473530 Thiamine-deficient optic neuropathy associated with wernicke's encephalopathy in patients with chronic diarrhea.
PubMedID- 26370974 Notably, mutations in aco-2 gene can cause syndromic optic neuropathy with encephalopathy and cerebellar atrophy in humans [170].
PubMedID- 25351951 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
PubMedID- 24647142 We present the magnetic resonance imaging findings of posterior ischemic optic neuropathy in a patient with posterior reversible encephalopathy syndrome secondary to hypertensive emergency.

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