LHON needs to be genetically diagnosed and the idebenone effect quantified (original) (raw)

A critical examination of a case study regarding Leber's hereditary optic neuropathy (LHON) highlights the need for genetic confirmation of diagnoses, particularly concerning the m.3460G>A variant. Concerns are raised about the lack of prospective investigations for multisystem involvement and the implications of potentially ineffective treatments such as idebenone. The discussion emphasizes the need for comprehensive genetic testing, monitoring of treatment efficacy, and further exploration of early-stage observations in LHON patients.