A novel mutation in a case of dominant optic atrophy.
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Date
2014-10
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Abstract
A 39‑year‑old healthy woman presented for decreased vision
at distance and near for 4 years. She also noted a decrease in
her color vision. Her best‑corrected visual acuities were 20/70
in each eye. Her visual fields were abnormal, and she had
bilateral sluggish pupils, impaired color vision, and optic disc
pallor. The magnetic resonance imaging of the brain, heavy
metal screen, autoimmune work‑up, B12, B6, folate, erythrocyte
sedimentation rate, rapid plasma reagin, and Lyme titer were
all normal. Optical coherence tomography of the macula and
electroretinogram were normal; the visual evoked potential was
unrecordable in both eyes. She denied a family history of similar
ocular issues, and genotyping of the OPA1 gene revealed a novel
previously unreported mutation at IVS12+10T >C.
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Keywords
Dominant optic atrophy (group together), OPA1, IVS12+10T >C
Citation
Ramkumar Hema L, Savino Peter J. A novel mutation in a case of dominant optic atrophy. Indian Journal of Ophthalmology. 2014 Oct ; 62 (10): 1034-1036.