Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber’s hereditary optic neuropathy due to DNAJC30 mutations

Eur J Neurol. 2024 May 17:e16344. doi: 10.1111/ene.16344. Online ahead of print.


Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss, and rarely associated with extraocular manifestations including multiple sclerosis-like lesions. The association of LHON and neuromyelitis optica spectrum disorders has rarely been reported. Here is reported a case of glial fibrillary acidic protein astrocytopathy presenting with area postrema syndrome in a patient with previously diagnosed recessive LHON due to mutations in the nuclear gene DNAJC30. This case emphasizes the necessity of extensive investigations for other treatable conditions in patients with LHON and otherwise unexplained extraocular involvement and the possibility that also visual symptoms can respond to immune therapy.

PMID:38757769 | DOI:10.1111/ene.16344