Remarkable visual improvement in Leber hereditary optic neuropathy.

Area of Science:

• Ophthalmology
• Genetics
• Neuroscience

Background:

• Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease.
• LHON typically results in severe, irreversible vision loss.
• Investigating cases with unexpected visual recovery is crucial for understanding disease mechanisms.

Purpose of the Study:

• To examine 8 cases of Leber hereditary optic neuropathy (LHON) exhibiting significant visual improvement.
• To identify characteristics associated with visual recovery in LHON patients.

Main Methods:

• Retrospective observational case series of 8 patients (16 eyes) with LHON.
• Analysis of clinical histories and visual acuity (BCVA) outcomes.
• Genetic testing for LHON-associated mutations (m.11778G>A and m.14484T>C).
• Humphrey Field Analysis (HFA) to assess visual field defects.

Main Results:

• 15 out of 16 eyes achieved a best-corrected visual acuity (BCVA) of 0.7 or higher.
• Significant improvement in visual acuity occurred within 1-2 years for most affected eyes.
• Humphrey Field Analysis showed improvement in mean deviation, with residual temporal defects in some cases.
• Optic disc findings in the chronic phase ranged from normal to partial temporal pallor.

Conclusions:

• Remarkable visual improvement in Leber hereditary optic neuropathy (LHON) is associated with earlier recovery onset.
• Visual field defects in these cases were relatively mild and often persisted temporally.
• Understanding these unique LHON cases may guide the development of novel therapeutic approaches.