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Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies
Journal of Neurology, Neurosurgery and Psychiatry
Journal Article --- Old month value: Jan
To elucidate the cause(s) of acute or subacute bilateral simultaneous optic neuropathy (BSON) in adult life, a follow up study of 23 patients was performed with clinical assessment, brain MRI, HLA typing, and mitochondrial DNA analysis. The results of CSF electrophoresis were available from previous investigations in 11 patients. At follow up, five (22%) had developed clinically definite multiple sclerosis, four (17%) had mitochondrial DNA point mutations indicating a diagnosis of Leber's hereditary optic neuropathy (LHON). The remaining 14 patients (61%) still had clinically isolated BSON a mean of 50 months after the onset of visual symptoms: three of 14 (21%) had multiple MRI white matter lesions compatible with multiple sclerosis, three of 14 (21%) had the multiple sclerosis associated HLA-DR15/DQw6 haplotype, and one of seven tested had CSF oligoclonal IgG bands; in total only five (36%) had one or more of these risk factors. The low frequency of risk factors for the development of multiple sclerosis in these 14 patients suggests that few will develop multiple sclerosis with more prolonged follow up. It is concluded that: (a) about 20% of cases of BSON without affected relatives are due to LHON; (b) multiple sclerosis develops after BSON in at least 20% of cases, but the long term conversion rate is likely to be considerably less than the rate of over 70% seen after an episode of acute unilateral optic neuritis in adult life.
Adolescent Adult Aged Alleles Brain/physiopathology DNA Probes, HLA/genetics DNA, Mitochondrial/genetics Female Follow-Up Studies *Functional Laterality Genome, Human Haplotypes Humans Immunoglobulin G/cerebrospinal fluid Magnetic Resonance Imaging Male Middle Aged Multiple Sclerosis/diagnosis/genetics Mutagenesis Optic Atrophies, Hereditary/diagnosis/*genetics/*physiopathology Point Mutation/genetics Polymerase Chain Reaction
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