Compressive Optic Neuropathy with a Concurrent Mutation of Leber’s Hereditary Optic Neuropathy: A Case Report

ABSTRACT

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that leads to acute or subacute, painless, bilateral loss of vision, caused by degeneration of retinal ganglion cells that most affects men in their second or third decade of life. We describe a woman with compressive optic neuropathy with a concurrent LHON-associated mitochondrial mutation. Temporal hemifield defect connected to central scotoma and concurrent abduction limitation are diagnostic clues in identifying chiasmal compression with craniopharyngioma. This case emphasizes an awareness of the possible coexistence of compressive and hereditary optic neuropathy.

KEYWORDS:

• Compressive optic neuropathy
• Leber’s hereditary optic neuropathy
• craniopharyngioma

Declaration of interest statement

The authors have no proprietary or commercial interest in any materials discussed in this article.

Additional information

Funding

This study was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT & Future Planning (NRF-2016R1C1B1016590). Also, the authors wish to acknowledge the financial support of the Catholic Medical Center Research Foundation made in the program year of 2019.