Case Rep Ophthalmol. 2025 Aug 28;16(1):686-692. doi: 10.1159/000547946. eCollection 2025 Jan-Dec.
ABSTRACT
INTRODUCTION: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that primarily affects young men, leading to subacute, painless, bilateral loss of central vision. It is caused by point mutations in mitochondrial DNA, especially those involving the MT-ND1, MT-ND4, and MT-ND6 genes, which disrupt complex I function in the mitochondrial respiratory chain.
CASE PRESENTATION: We describe an 18-year-old male cricket player who presented with a 6-month history of gradually worsening, painless visual loss in both eyes. His best corrected visual acuity was 6/60 in the right eye and 3/60 in the left eye. Color vision was reduced in the left eye but improved when tested with a red filter, raising suspicion of optic nerve pathology. Fundus examination revealed subtle hyperemic optic discs, and visual field testing identified central and paracentral scotomas. MRI of the orbits showed bilateral T2 hyperintensities in the intraorbital portions of the optic nerves. Genetic testing confirmed a homoplasmic MT:14484C>T mutation in the MT-ND6 gene. The patient also reported systemic symptoms including palpitations and excessive sweating. Cardiac evaluation revealed mitral valve prolapse, sinus tachycardia, and elevated blood pressure. These findings led to a diagnosis of Leber’s hereditary optic neuropathy plus (LHON plus). He was started on coenzyme Q10 and oral nutritional supplements. Remarkably, over the course of a year, he regained full visual acuity with only residual optic disc pallor.
CONCLUSION: This case underscores the importance of considering LHON plus in young patients with bilateral optic neuropathy and systemic features, particularly when the MT:14484C>T mutation is present, as early mitochondrial support can lead to favorable outcomes.
PMID:41063811 | PMC:PMC12503776 | DOI:10.1159/000547946