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New research · Ophthalmology
Indian journal of ophthalmology · 2d
Systematic reviewIndian journal of ophthalmology · 2026

Systematic review of Leber's hereditary optic neuropathy - Clinical diagnosis, genetics overview and current concepts of treatment.

Selvakumar Ambika, Sundaramurthy Srilekha
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OphthalmologySystematic review
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Current clinical trials, including RESTORE and REFLECT, emphasize the importance of prompt treatment to optimize visual outcomes.

Systematic review of Leber's hereditary optic neuropathy - Clinical diagnosis, genetics overview and current concepts of treatment.

Selvakumar Ambika, Sundaramurthy Srilekha
Indian journal of ophthalmology · 2026
Background

Leber hereditary optic neuropathy (leber hereditary optic neuropathy) is the most common mitochondrial disorder, typically causing substantial, often permanent, central vision loss in young adults.

More results

The condition is primarily associated with three mitochondrial DNA (mtDNA) point mutations-m.11778G>A, m.14484T>C, and m.3460G>A-located in complex I of the mitochondrial respiratory chain.

These mutations impair oxidative phosphorylation, elevate reactive oxygen species (reactive oxygen species), and trigger apoptosis of retinal ganglion cells.

More results

Idebenone, a synthetic CoQ10 analog, is the first pharmacologic agent approved in Europe, demonstrating partial visual recovery in patients treated early by improving mitochondrial electron transport and reducing oxidative stress.

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