Retinopathy associated with MELAS syndrome. A case report

Abstract

MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is an inherited disease frequently caused by a mutation in the mitochondrial DNA variant m.3243A>G in the MT-TL1 gene. The most frequent ophthalmologic finding present in 86-87% of patients with this mutation is mitochondrial retinopathy, where the clinical picture may vary from a macular and peripapillary salt-and-pepper granular pattern to chorioretinal atrophy. We present the case of a 47-year-old woman with type 1 diabetes mellitus, epilepsy, leukoencephalopathy, and deafness who was suspected of having mitochondrial disease after fundus examination. We would like to emphasize the importance of suspecting a mitochondrial disease in progressive multisystem disorders associated with neuro-ophthalmological manifestations, since early diagnosis allows for better monitoring of systemic manifestations, reducing morbidity and mortality.