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Late-onset Leber hereditary optic neuropathy.

Margaret L Pfeiffer¹, Nafiseh Hashemi, Rod Foroozan

¹The University of Texas Medical School at Houston, Houston, Texas, USA.

Clinical & Experimental Ophthalmology

|February 26, 2013

Summary

Leber hereditary optic neuropathy can cause vision loss in older adults, not just younger individuals. This study characterizes the clinical features of this rare presentation in patients over 60.

Keywords:

Leber hereditary optic neuropathy neuro-ophthalmic disease optic neuropathy mitochondrial DNA

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Area of Science:

Ophthalmology
Genetics
Neurology

Background:

Leber hereditary optic neuropathy (LHON) typically presents with bilateral vision loss in young to middle-aged adults.
Late-onset visual loss from LHON is less common but clinically significant.

Purpose of the Study:

To characterize the clinical features of Leber hereditary optic neuropathy in patients presenting with visual loss at an older age.

Main Methods:

Retrospective case series.
Identified patients with genetically confirmed LHON and visual loss.
Analyzed clinical courses of affected individuals.

Main Results:

Five patients over 60 years old (mean age 66.4) experienced visual loss due to genetically confirmed LHON.
Age at visual loss ranged from 62 to 70 years.

Conclusions:

Leber hereditary optic neuropathy should be considered in the differential diagnosis of optic neuropathy in older patients.
This cohort highlights the variability in LHON presentation across different age groups.