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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.
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.
Insights
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.
