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Retinopathy associated with MELAS syndrome. A case report
A B González Escobar1, E Barco Moreno1, M A López-Egea Bueno1
1Departamento de Oftalmología, Hospital Virgen de la Victoria, Málaga, Spain.
Archivos De La Sociedad Espanola De Oftalmologia
|March 9, 2025
Summary
MELAS syndrome, often caused by the m.3243A>G mitochondrial DNA mutation, frequently presents with mitochondrial retinopathy. Early diagnosis of this multisystem disorder is crucial for managing symptoms and improving patient outcomes.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- MELAS syndrome is a mitochondrial disorder often linked to the MT-TL1 gene's m.3243A>G mutation.
- Ophthalmologic findings are common, affecting up to 87% of patients with this mutation.
Observation:
- A case report details a 47-year-old woman with diabetes, epilepsy, leukoencephalopathy, and deafness.
- Fundus examination raised suspicion for mitochondrial disease.
Findings:
- The most common ophthalmologic finding in MELAS syndrome is mitochondrial retinopathy.
- Clinical presentation of retinopathy ranges from granular patterns to chorioretinal atrophy.
Implications:
- Neuro-ophthalmological manifestations should prompt suspicion for mitochondrial disease.
- Early diagnosis aids in monitoring systemic symptoms, potentially reducing morbidity and mortality.
