A novel mutation in a case of dominant optic atrophy?

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. Optic nerve optical coherence tomography (OCT) demonstrated symmetric severe retinal nerve fiber layer (RNFL) thi...

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Bibliographic Details
Published in:Indian journal of ophthalmology 2014-10, Vol.62 (10), p.1034-1036
Main Authors: Ramkumar, Hema, Savino, Peter
Format: Article
Language:English
Subjects:
Adult
Brief Communication
Care and treatment
Case studies
DNA - genetics
DNA Mutational Analysis
Electroretinography
Female
Gene mutations
Genetic aspects
Genotype & phenotype
GTP Phosphohydrolases - genetics
GTP Phosphohydrolases - metabolism
Humans
Identification and classification
Medical imaging
Mutation
NMR
Nuclear magnetic resonance
Optic atrophy
Optic Atrophy, Autosomal Dominant - diagnosis
Optic Atrophy, Autosomal Dominant - genetics
Optic Atrophy, Autosomal Dominant - metabolism
Optic Nerve - metabolism
Optic Nerve - pathology
Optics
Patients
Tomography
Tomography, Optical Coherence
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Summary: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. Optic nerve optical coherence tomography (OCT) demonstrated symmetric severe retinal nerve fiber layer (RNFL) thinning (average 59 μm OD and 58 μm OS), most superiorly and inferiorly with temporal sparing [Figure 3].
ISSN:0301-4738
1998-3689
DOI:10.4103/0301-4738.146043