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Case reportCureus · 2026

Leber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review.

Paulina Mikulenaite, Alvita Vilkeviciute, Almina Stramkauskaite … Rasa Liutkeviciene

OphthalmologyCase report

Idebenone therapy led to sustained visual acuity improvement in rare leber hereditary optic neuropathy mutation case

Leber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review.

Paulina Mikulenaite … Rasa Liutkeviciene

Cureus · 2026

Background

Leber hereditary optic neuropathy (leber hereditary optic neuropathy) is an inherited mitochondrial optic neuropathy characterized by acute or subacute painless central visual loss.

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Results

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vision sharpened and stayed improved for six years on treatment

More results

Most cases are associated with three primary mitochondrial DNA mutations; however, rare variants remain incompletely characterized.

Early diagnosis is essential for appropriate management and genetic counseling.

We report the case of a 51-year-old Lithuanian woman who presented with painless, progressive central visual loss.

More results

It underscores the importance of considering hereditary optic neuropathy in patients with painless visual loss and poor response to corticosteroids.

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Conclusion

Further studies are needed to clarify genotype-phenotype correlations and treatment responsiveness in rare leber hereditary optic neuropathy-associated mutations.

Post

Leber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review.

Idebenone therapy led to sustained visual acuity improvement in rare leber hereditary optic neuropathy mutation case

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