Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A

TL;DR

A rare MT-ATP6 gene variant is linked to optic atrophy resembling Leber's hereditary optic neuropathy, highlighting the need for mitochondrial DNA testing in similar cases.

Contribution

The study reports a novel association between the MT-ATP6 m.8969G>A variant and LHON-like optic atrophy.

Findings

The MT-ATP6 m.8969G>A variant was found in a patient with LHON-like optic atrophy.

This variant was previously linked to other mitochondrial disorders but not optic atrophy.

The case suggests the need for mitochondrial DNA analysis in undiagnosed LHON cases.

Abstract

To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A.

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 MT-ATP6, 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.

Rare variants in MT-ATP6 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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