Objective To observe the clinical characteristics of demyelinating optic neuritis (DON) in Chinese children under the age of 16. Methods A retrospective review of the medical charts of 42 pediatric patients with DON was conducted in this study. Twenty-two patients (52.4%) were male, and 20 patients (47.6%) were female. The patients aged from 3 to 15 years, with the mean age of (9.5±2.3) years. There were 35 bilateral patients and 7 unilateral patients. Twenty-seven patients (64.3%) had prodromal symptoms before onset. All patients underwent visual function and imaging tests, such as best corrected visual acuity (BCVA), fundus photography, visual evoked potential (VEP), visual field, MRI. The patients were tested for serum levels of antibodies for aquaporin 4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) with a cell-based assay. All patients were received corticosteroid therapy. The mean follow-up was (1.17±0.42) years. The children who had coordination ability and with BCVA≥0.3 were received examination of Humphery automatic perimeter. Data were collected on the age, gender, clinical features, neuroimaging, serological specific antibodies, treatment and vision prognosis. Results 23.8% of the children were bilateral optic neuritis in onset stages. 64.2% were recurrent optic neuritis and 83.3% exhibited bilateral diseases eventually. BCVA had decreased to ≤0.1 in 87.0%% eyes and disc swelling was observed in 77.9% eyes during the onset stages. All eyes had visual field defects and abnormal VEP exam results, with delayed latency of P100 and P2, and varying degrees of amplitude reduction. Serum AQP4 antibody and MOG antibody were tested by cell-based assay, 2/42 children (4.7%) were positive for AQP4 antibody and 5/24 children (20.8%) were positive for MOG antibody. All of anti-AQP4+ and anti- MOG+ cases relapsed. All children underwent orbital magnetic resonance imaging (MRI), 40 cases (95.2%) showed demyelination features of optic nerve, and 5 cases (11.9%) showed long segments lesion (more than 1/2 length of the optic nerve). There were 2 anti-AQP4+ cases and 3 anti- MOG+ cases from the 5 cases with long segments lesion. MRI also showed brain demyelinating lesions in 4 children (3 of them were anti- MOG+) or spinal cord demyelinating lesions in 3 children (2 of them were anti- MOG+). After treatment with glucocorticoid, visual acuity improved in all eyes, of which 84.4% with BCVA≥0.5. Forty-eight eyes of 26 children accept dynamic visual field during the course of treatment, showed the vision abnormalities associated with optic nerve damage. Conclusions Children under the age of 16 with DON can experience severe visual impairment, higher recurrence tendencies, and higher rate of disc involvement, but good response to glucocorticoid therapy. AQP4 or MOG antibodies positive might be concurrent with brain and (or) spinal cord demyelinating lesions and indicated a poorer prognosis.
ObjectiveTo evaluate the visual improvement of therapeutic plasma exchange (TPE) for refractory optic neuritis (ON) patients in acute phase.MethodsSeventy-five affected eyes from 44 refractory ON patients with severe visual defect or resistance to high-dose intravenous methylprednisolone (IVMP) therapy, who were admitted to The Chinese PLA General Hospital between January 2015 and August 2016, were recruited and received TPE therapy. Among these patients, 11 were male and 33 were female; the average age was 39.1±13.9; 31 patients had two affected eyes, 13 patients had one affected eye. The course of the disease on the group of patients were more than 2 weeks, and the visual acuity worsened for more than 10 days and continued to deteriorate. TPE treatment was performed on all of the patients. BCVA was recorded before and 24 h after treatment, and the visual function was scored using visual outcome scale (VOS). At the same time, the adverse reactions of TPE treatment were observed. The paired t-test was used to compare the VOS before and after treatment. The correlation between VOS before and after treatment was analyzed by Linear-by-Linear correlation analysis.ResultsAmong 75 affected eyes, the post-therapy VOS 3.89±2.13 was significantly improved from pre-therapy VOS 5.56±1.69 (t=6.77, P＜0.001). Forty-eight of 75 eyes were improved at lease 1 score of VOS, the overall rate of visual improvement was 64.0%. Especially among the eyes with initial vision of light perception, an improved rate of 82.4% was presented. 75.0% in those eyes with initial vision of count fingers and 67.7% in no light perception. Linear-by-Linear correlation analysis showed a significant linear correlation between the scores of VOS before and after TPE treatment (r=0.398, P=0.01). During the course of TPE treatment, 5 patients had mild adverse reactions such as low calcium reaction and allergic reaction and were well controlled after treatment.ConclusionUsing TPE to treat refractory ON in acute phased can improve the visual function of patients.
ObjectiveTo observe the effects of penetrance, different time of onset and mutation sites on retinal nerve fiber layer (RNFL) and macular thickness in patients with Leber's hereditary optic neuropathy (LHON).MethodsThis was a cross-sectional observational study. A total of 88 patients with LHON and 1492 relatives of the maternal relatives (gene carriers) who received treatment in People’s Liberation Army General Hospital from 2015 to 2017 were included in the study. Among the 1492 family members, there were 694 males and 798 females. Peripheral venous blood was extracted from all subjects for mitochondrial DNA testing, and penetrance was calculated. A total of 117 patients underwent BCVA and SD-OCT examinations, including 82 patients and 35 gene carriers. The BCVA examination was performed using the Snellen visual acuity chart, which was converted into logMAR visual acuity. The thickness of RNFL, ganglion cell complex (GCC) and inner limiting membrane (ILM)-RPE were measured with OCT instrument. The mean follow-up was 50.02±86.27 months. The disease course was divided into 6 stages including ≤3 months, 4-6 months, 7-12 months and >12 months. The thickness of RNFL, GCC and ILM-RPE in patients with different time of onset and mutation sites were comparatively analyzed by covariance analysis. Categorical variables were expressed as a percentage, and the χ2 test was used for comparison among multiple groups.ResultsAmong the 1492 family members, 285 were diagnosed with LHON and highly suspected clinical manifestations (19.10%), including 190 males (21.98%) and 95 females (11.90%). The total penetrance rates of 11778, 14484 and rare mutation sites were 19.84% (228/1149), 20.50% (33/161), and 13.19% (24/182) respectively; male penetrance rates were 28.87% (153/530), 27.28% (20/72), and 18.48% (17/92) and female penetrance rates were 12.12% (75/619),14.61% (13/89) and 7.78% (7/90). There was no significant difference in total (χ2=4.732), male (χ2=4.263) and female (χ2=4.263) penetrance between different mutation sites (P=0.094, 0.110, 0.349). Compared with non-pathogenic carriers, the thickness of the RNFL, GCC and ILM-RPE were all different in the four stages ( ≤3months, 4-6 months, 7-12 months and >12 months). The thickness of RNFL, GCC and ILM-RPE decreased with the time of onset (P=0.000). There were significant differences in the thickness of each of the GCC and ILM-RPE layers in the macular area of LHON patients with different mutation sites (P＜0.05). Among them, the site 11778 and 3460 had the most severe damage in all quadrants of macular GCC and ILM-RPE layer, followed by 14484 site, and the rare site had the least damage in all quadrants.ConclusionsThe penetrance of LHON patients is 19.10%. With the extension of the onset time (within 1 year), the RNFL layer of the optic disc and all quadrants of the macular GCC and ILM-RPE layer gradually thinned. Compared with 11778 and rare site, 14484 site, and the rare site had the lighter damage on the thickness of RNFL, GCC and ILM-RPE.