Mitochondrial Retinopathy Due to MT-TL1 Mutation: The Role of Heteroplasmy. A Case Report

Bilateral and symmetric RPE atrophic changes in young individuals, especially when associated with systemic symptoms, should prompt a comprehensive evaluation, including multimodal imaging and genetic testing. Identifying causative mutations and understanding the dynamics of mitochondrial DNA in the pathogenesis of these diseases is crucial for improving diagnosis and suggesting potential therapeutic strategies, including gene therapy.