Scientific Publications Database

Article Title: Unilateral cone-rod dysfunction and retinal thinning in a child carrying the 14484 mutation of Leber hereditary optic neuropathy
Authors: Kassem, Ahmed; Karanjia, Rustum; McClelland, Collin; Sadun, Alfredo; Lee, Michael S.
Journal: JOURNAL OF AAPOS Volume 23 Issue 2
Date of Publication:2019
Abstract:
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.