Objective: To investigate clinical characteristics of optic neuritis and its association with HLA (human leukocyte antigen).
Method: The clinical data of 42 patients with optic neuritis were collected and flow polymerase chain reaction-reverse sequence specific oligonucleotide probe (PCR-rSSOP) was used to determine the genotype of HLA-DRB1.
Results: Two patients confirmed as Leber hereditary optic neuropathy by gene sequencing were excluded from the study. The complaint of pain was found in the patients (31/40) of optic neuritis. The visual field defect varied with patients and central and pericentral scotoma were demonstrated in 7 patients of 17. Of 40 patients with optic neuritis, 20 (50.0%) showed multifocal brain lesions in white matter by MR scanning. 26 of 38 patients had increased STIR signals. Inflammatory demyelinating changes were found in cerebral spinal fluid in 21 patients (80.8%). Out of demonstrated brain abnormal was revealed in 29 (72.5%) patients using MRI and/or CSF examination. The rate of HLA-DRB1(*)15 in the patients (35.0%) was much higher than control (19.4%), (chi(2) = 4.2328, P = 0.0397). Frequencies of HLA-DRB1(*)15 increased significantly in 26 female patients. The increased frequencies of HLA-DRB1(*)15 were associated with CSF abnormality and no relevancy was found with onset times, brain MR changes and increase of optic nerve signals. Acute optic neuritis responded well to intravenous megadose of methylprednisolone or immunoglobulin.
Conclusions: Most of optic neuritis was characterized as clinical inflammatory demyelinating disease. HLA-DRB1(*)15 might correlated with genetic susceptibility of female patients with optic neuritis.