AI Article Synopsis
- A 20-year-old patient lost his vision over a few weeks and had some other health issues.
- Genetic testing showed a rare gene change linked to other illnesses, but not to vision loss before.
- This case highlights the need for more genetic testing to understand vision problems that might look like Leber's hereditary optic neuropathy.
Article Abstract
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of gene variant m.8969G > A.
Observations: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor presented with subacute painless visual loss over a few weeks. Mitochondrial genome sequencing revealed a variant in , m.8969G > A (p.Ser148Asn). This variant was previously reported in association with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) and with nephropathy, followed by brain atrophy, muscle weakness and arrhythmias, but not with optic atrophy.
Conclusions And Importance: Rare variants in can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber's hereditary optic neuropathy to confirm the clinical diagnosis.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11096717 | PMC |
| http://dx.doi.org/10.1016/j.ajoc.2024.102070 | DOI Listing |
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