Case Report: An Unusual Presentation of Leber’s Hereditary Optic Neuropathy

Optom Vis Sci. 2023 Jun 6. doi: 10.1097/OPX.0000000000002033. Online ahead of print.


SIGNIFICANCE: Leber’s hereditary optic neuropathy (LHON) is often associated with onset in the young, adult male demographic. This case report serves as a reminder that it can affect both sexes with onset into middle-age.

PURPOSE: LHON is a maternally-inherited mitochondrial disorder that typically affects males during young adulthood. It presents with a rapid, yet painless loss of vision with the fellow eye often affected within a few months. The optic neuropathy causes a dense central scotoma with visual acuities reduced to less than 20/400.

CASE REPORT: A 60-year-old Caucasian female presented with reports of decreased vision in both eyes for the previous two months. She had been followed for the previous five years for glaucoma suspect monitoring, with full fields and normal OCT scans. Entering visual acuity was finger counting at 1 meter OD and 20/100 OS. Pupil testing revealed a grade 1 relative afferent pupillary defect OD. Dilated fundus examination revealed stable moderate optic nerve cupping and intact neuroretinal rim tissue. Humphrey 24-2 Swedish Interactive Thresholding Algorithm (SITA) Standard visual field testing showed a significant superior altitudinal defect and inferior paracentral defect in the right eye, and a partial superior arcuate in the left eye. Magnetic resonance imaging (MRI) with contrast of the head and orbits was normal. A history of alcoholism was elicited and Leber’s hereditary optic neuropathy testing revealed positive 11778 mutation at homoplasmy.

CONCLUSIONS: Although still uncommon, presentation of LHON in a middle-aged female is possible, and should be considered a viable differential when individuals present with painless vision loss and central/centrocecal scotomas.

PMID:37278665 | DOI:10.1097/OPX.0000000000002033