Fast Five Quiz: Diagnosis of Inherited Retinal Diseases

Donny W. Suh, MD, MBA;  Raj K. Maturi, MD


March 31, 2023

LHON is the most common inherited mitochondrial disorder that typically affects young males who are between 10 and 30 years of age. Although not fully understood, LHON is thought to be caused by mitochondrial DNA defects resulting in retinal ganglion cell death and subsequent atrophy and demyelination of the optic nerve by overproduction of reactive oxygen species. Patients typically present with painless unilateral blurring and clouding of vision, with sequential involvement of the other eye within 6 months.

Retinal imaging using optical coherence tomography may show vascular dilation and tortuosity in the acute phase; atrophy is seen in later stages. In LHON, visual acuity is typically severely reduced to 20/200 or worse. The diagnosis of LHON is often confirmed with genetic testing to distinguish it from other causes of optic neuropathy.

Multiple epidemiologic studies have suggested that environmental triggers, such as heavy smoking, are a major risk factor for visual loss in LHON.

There have been cases wherein slit-lamp examination results were normal.

Learn more about optic atrophy.


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