2025 Volume 42 Issue 2 Pages 194-200
The patient is a 70-year-old woman. Her daughter (onset during elementary school) and grandson (onset at age 17) currently attend our hospital with LHON (11778 point mutation). The patient visited our hospital complaining of progressive vision loss over the past month. The best-corrected visual acuity at the initial visit was (0.9) in the right eye and (0.02) in the left. The left relative afferent pupillary defect (RAPD) was positive. The visual field was normal in the right eye, but a central scotoma was observed in the left eye. The optic discs were mildly reddish and swollen in the eyes. Magnetic resonance imaging showed no abnormalities. Four months after the initial examination, visual acuity declined to (0.09) and (0.01) in the right and left eyes, respectively. Mitochondrial DNA testing revealed 11778 mutation as in her daughter and grandson, confirming the diagnosis of LHON. LHON usually develops between the ages of 10 and 30 years; however, one study reported its onset at the age of 73 years. Here, the daughter and grandson were diagnosed first. Mitochondrial DNA testing should be considered in cases of vision loss in female carriers, although they are not predominantly young males.
