Post

New research · Ophthalmology
Cureus · 12h
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
Read paper
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.

1.0
Results
1.0
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.

“
Conclusion

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

Read paper
0 comments

No comments yet. Be the first.

Related papers

LatestFoundational
Cross-sectional
44.1%
had too much homocysteine in the blood, a far larger share than in dry AMD or healthy eyes
Cohort Study
92.3%
most laser-treated eyes had a favorable eye-structure outcome
Cohort Study
56%
lost three or more lines on the eye-chart vision test
Cohort Study
50%
older patients were more likely to lose three or more lines of vision
Study
81%
trials where mask air leaks were detected blowing toward the eyes
Cohort Study
13.5%
Central retinal artery peak blood-flow speed was 13.5% lower in diabetic patients.
Study
379 +/- 156 microm
lower thickness in the central retina, checked with an eye scan
Case Report
9 of 10 eyes
eyes had better measured vision after treatment