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Leber hereditary optic neuropathy.

Gavin Hudson¹, Patrick Yu-Wai-Man, Patrick F Chinnery

¹Newcastle University, Mitochondrial Research Group, M4014, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK +44 191 222 8233 ; +44 191 222 8553 ; P.F.Chinnery@ncl.ac.uk.

Expert Opinion on Medical Diagnostics

|March 19, 2013

Summary

This summary is machine-generated.

Leber hereditary optic neuropathy (LHON) is an inherited blindness primarily affecting young males, diagnosed via genetic testing for specific mitochondrial DNA mutations. Management focuses on supportive care and genetic counseling.

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Area of Science:

Ophthalmology
Genetics
Neurology

Background:

Leber hereditary optic neuropathy (LHON) causes inherited blindness, typically affecting young adult males with subacute visual failure.
LHON presents with impaired color vision, visual field defects, and abnormal electrophysiology.
Males are disproportionately affected, with high penetrance in carriers before age 50.

Purpose of the Study:

To summarize the current clinical approach to molecular diagnosis of LHON.
To outline the clinical management strategies for LHON patients.

Main Methods:

Literature review of current understanding.
Presentation of a review of current knowledge.

Main Results:

LHON diagnosis is confirmed by molecular genetic analysis of common mitochondrial DNA (mtDNA) mutations affecting Complex I genes.
Three primary mtDNA mutations (m.3460G > A, m.11778G > A, m.14484T > C) are frequently identified.
Whole mitochondrial genome sequencing aids diagnosis in rare cases, but molecular diagnosis isn't always possible.

Conclusions:

Management is primarily supportive, including low-vision aids and social service registration.
Genetic counseling is crucial for LHON patients and families.
A minority of LHON patients may experience multi-system involvement with neurological features.