Archiv článků

Mitochondrial Retinopathy Due to MT-TL1 Mutation: The Role of Heteroplasmy. A Case Report Journal > /cs/journal/2025/3/6
Objective: To report a case of mitochondrial retinopathy, highlighting its clinical and imaging findings, the importance of genetic confirmation, and the possible implications of heteroplasmy in this disease. Material and Methods: Case report of a mitochondrial retinopathy secondary to m.3243A>G mutation in the MT-TL1 gene. Results: A 32-year-old woman presented with bilateral vision loss, phot...