[Clinical practice guidelines for Leber's hereditary optic neuropathy]

Area of Science:

• Genetics
• Ophthalmology
• Neurology

Background:

• Leber's hereditary optic neuropathy (LHON) is a maternally inherited genetic disease.
• Key mutations in mitochondrial DNA (mtDNA) like m.11778G>A, m.14484T>C, and m.3460G>A are the primary cause.
• LHON's presentation is influenced by nuclear genes, mtDNA background, and environmental factors.

Purpose of the Study:

• To consolidate current knowledge on LHON genetics and clinical management.
• To provide a guideline for improving LHON diagnosis and treatment.
• To tailor recommendations for the Chinese population based on global research.

Main Methods:

• Comprehensive review of domestic and international basic and clinical research.
• Analysis of published guidelines and consensus statements.
• Integration of data specific to the Chinese population.

Main Results:

• Identified the primary genetic mutations responsible for LHON.
• Highlighted the multifactorial nature of the disease, including genetic and environmental influences.
• Established a foundation for evidence-based clinical practice.

Conclusions:

• Accurate diagnosis of LHON requires understanding its complex genetic underpinnings.
• Standardized clinical management protocols are essential for optimal patient outcomes.
• This guideline serves as a valuable resource for clinicians managing LHON patients.