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Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation
Yujing Li1,2, Yihong Ding1,2, Enzhong Jin1,2
1Department of Ophthalmology, Peking University People's Hospital, Beijing, China.
Frontiers in Pediatrics
|September 8, 2025
Summary
The m.3243A>G mutation, a common mitochondrial DNA defect, can cause iris abnormalities in infants. This finding expands the known ocular signs associated with this mutation, aiding in early eye screening.
Area of Science:
- Genetics
- Ophthalmology
- Mitochondrial Diseases
Background:
- The m.3243A>G mutation in the MT-TL1 gene is the most frequent mitochondrial DNA mutation.
- This mutation is associated with MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome, encompassing various systemic and ocular manifestations.
- Ocular signs include cataract, ptosis, extraocular muscle paralysis, and retinitis pigmentosa, with retinitis pigmentosa being most common.
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