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Leber Hereditary Optic Neuropathy With Significant Visual Recovery: An MT-ND6 Mutation in a Malay Patient

Year: 2024

Type: article

Abstract: Leber hereditary optic neuropathy (LHON) is a rare maternally inherited mitochondrial disorder that predominantly affects young men, leading to optic nerve degeneration and subsequent vision loss. The rarity of LHON and its clinical similarity to optic neuritis complicates diagnosis, necessitating genetic testing to confirm specific point mutations and predict visual outcomes. We report a rare case of an 18-year-old Malay male with m.14484T>C/MT-ND6 mutation of LHON, who demonstrated remarkable spontaneous visual recovery over a three-year follow-up period. This report highlights the pivotal role of genetic testing in diagnosing LHON, explores the variability in visual outcomes associated with different mutations, and underscores the potential for spontaneous recovery in specific mutation variants. Early diagnosis, genetic counseling, and supportive management are critical for optimizing outcomes and improving quality of life.

Source: Cureus

DOI: 10.7759/cureus.71210