Leber hereditary optic neuropathy is a mitochondrial disorder that presents with bilateral, usually sequential, central vision loss from optic nerve damage. We report the case of an 11-year-old girl with the 14484 mutation who developed significant, unilateral visual loss secondary to retinal thinning and abnormal cone-rod responses on electroretinography, with no evidence of optic nerve damage. Patients carrying the 14484 mutation may also develop cone-rod dysfunction.
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© 2018 American Association for Pediatric Ophthalmology and Strabismus