Life (Basel). 2023 Sep 30;13(10):2000. doi: 10.3390/life13102000.
BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is a rare disease. Large studies are difficult to conduct; therefore, case reports provide valuable data. Since 2015, patients have been treated with Idebenone. The aim of this paper is to share our experience with diagnosing and managing patients in different stages of LHON.
METHODS: We designed a case series study, including four patients undergoing genetic testing and ophthalmologic examination. Criteria for Idebenone administration and follow-up were presented.
RESULTS: All patients had mutation 11778G>A in MT-ND4. The first patient, an 82-year-old man, with long history of vision loss, had no indication for Idebenone. Two additional cases emerged within the same family: a 40-year-old brother and a 31-year-old sister. Both received Idebenone, with good outcomes only for the female. After a one-year regimen, they were lost to follow-up. The fourth patient, a 46-year-old man, was diagnosed in the subacute stage. Idebenone administration was deferred, allowing progression of visual field defects. After 17 months of treatment, visual improvement appeared. The treatment was continued for 36 months, with short interruptions, resulting in good outcomes.
CONCLUSIONS: Our study demonstrated positive results with long-term Idebenone use. Contrary to medical literature, our female patient had a favorable evolution, despite the delayed diagnosis.