Clinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy

Mitochondrial disorders, particularly those associated with the m.3243A>G mutation in the MT-TL1 gene, can manifest with diverse systemic and ocular features, including mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and maternally inherited diabetes and deafness. Retinal involvement often presents as macular pattern dystrophy. A 65-year-old female with a known history of mitochondrial disease (m.3243A>G mutation) presented for evaluation of retinal findings. She had asymptomatic diabetes and deafness, with visual acuity measured at 0.12 bilaterally. Clinical examination revealed clear corneas, nonsignificant cataracts, and fundoscopic findings of patchy retinal and parafoveal atrophy with preserved foveal regions. Optical coherence tomography indicated a preserved fovea, but thinning of perifoveal layers. The findings suggest retinal dystrophy indicative of mitochondrial retinopathy, characterized by macular pattern dystrophy associated with the m.3243A>G mutation. Given the potential for varied clinical presentations linked to this mutation, multidisciplinary evaluations are essential to assess systemic involvement and facilitate appropriate management. This case underscores the importance of recognizing retinal manifestations in patients with mitochondrial disorders, particularly in those with the m.3243A>G mutation, and highlights the need for comprehensive monitoring and care.