Purpose To investigate mitochondrial DNA (mt-DNA) mutations in optic neuritis of unknow reason (ONUR) and to assess the pathogenic and differential diagnostic values of screening for mt-DNA mutations in ONUR. Method Thirty patients with ONUR were screened for mt-DNA mutations by using SSCP,mutation-specific primer PCR and sequencing. Results mt-DNA mutations were found in 12 out of the thirty patients.All of the mutations were at 11778 position,but no one at 3460 and 15257. Conclusions Quite a number of patients (12/30,40%) with ONUR were caused actually by mt-DNA mutation．Screening for mt-DNA mutation in these patients has a pathogenic and differential diagnostic significance. (Chin J Ocul Fundus Dis,2000,16:78-79)
Objective To detect the color damage in patients with idiopathic optical neuritis (ION) after the treatment.Methods A total of 26 ION patients (44 eyes) with ION whose visual acuity were above 1.0 were collected. All the patients had undergone the treatment of incretion and had the visual acuity more than 1.0 after the treatment.The results of MRI and blood examination were normal. Another 24 healthy persons were selected as the normal control. Total error scores (TES) and each error score of red, green and blue were measured via Farnsworth Munsell100 hue tester. The TES origin scores and their square roots were used for a statistical analysis. The results of the two groups were compared.Results There weresignificant differences in TES and its square roots between ION group and the normal control group (t=3.079，3.133；P=0.0033，0.0026).The differences in the level of error scores of each color between the tow groups were not significant (t=1.91,1.15,1.62; P=0.061,0.26,0.11);but the differences in the square roots of red color between the two groups were statistically(t=2.21,P=0.031).Conclusion After the treatment,the visual acuity of ION patients increases,but the color damage still exist; red color damage happens first.
ObjectiveTo observe the thickness of per-papillary retinal fiber layer (pRNFL) and structural changes of inner macular segmented layers in optic neuritis (ON) patients with positive aquaporin-4 antibody[AQP4-Ab(+)]. Methods60 ON patients (84 eyes) including 30 of AQP4-Ab(+) ON patients (42 eyes) and AQP4-Ab(-) ON patients (42 eyes), and 40 age-gender matched health controls(80 eyes) were recruited in present study. There was no statistical significance in gender (χ2=0.568) and age (χ2=1.472) between the three groups (P > 0.05). There was no statistical significance in the percentage of different course (χ2=0.000) and logMAR best corrected visual acuity (Z=-1.492) between AQP4-Ab(+)ON and AQP4-Ab(-)ON group (P=1.000, 0.136). All subjects were examined by Spectralis-OCT. The thickness of per-papillary, nasal, nasal lower, temporal lower, temporal, temporal upper, nasal upper and papillomacular bundle (PMB) were analyzed as well as nasal pRNFL/temporal pRNFL (N/T). The macular area was divided into three concentric circles which including central region with 1 mm diameter, inner area with > 1 mm but≤3 mm diameter, and outer ring area with > 3 mm but≤6 mm diameter. The macular volume in each partition and volume in macular RNFL (mRNFL), macular ganglion cell layer (mRGCL), macular inner plexiform layer (mIPL) and macular inner nuclear layer (mINL) were analyzed. ResultsCompared to HC group, the thickness of pRNFL, every quadrants and PMB were decreased significantly in ON group (P=0.000); the macular volume and the volume of mRNFL, mRGCL, mIPL were also decreased significantly in ON group (P=0.000); but there was no statistical difference in mINL volume between two groups (P=0.700). Compared to AQP4-Ab(-)ON group, the thickness of nasal and nasal lower were decreased significantly in AQP4-Ab(+)ON group (P=0.010, 0.000); the macular and mIPL volume were also decreased significantly in AQP4-Ab(+)ON group (P=0.038, 0.033); the thickness of inferior, superior and inferior mIPL in outer ring area and nasal mRNFL in inner area were decreased significantly in AQP4-Ab(+)ON group (P < 0.05). ConclusionsCompared to AQP4-Ab(-)ON patients, the pRNFL thickness and mIPL volume decreased in AQP4-Ab(+)ON patients. The thinner pRNFL area is mainly located in nasal, nasal lower quadrants, and inferior, superior mIPL.
Objective To compare the differences of optic disc morphology and optic nerve head parameters between Vogt-Koyanagi-Harada (VKH) syndrome and optic neuritis (ON) with optic disc edema. Methods This is a retrospective study including 21 first-onset VKH patients (35 eyes) as VKH group and 22 first-onset ON patients with optic disc edema (27 eyes) as ON group. The differences of age (t=−1.11) and gender (χ2=0.20) between two groups were not significant (P＞0.05). Sixty-two eyes of 43 age and gender-matched healthy subjects were enrolled in this study as control group. All subjects underwent three dimensional optical coherence tomography (3D-OCT) examinations. The difference of optic disc morphology between two groups was observed. The parameters included average thickness of entire circumpapillary retinal nerve fiber layer (CP-RNFL), thickness of nasal, superior, temporal and inferior quadrant of CP-RNFL, disc area, disc cup area, rim area, cup/disc (C/D) area ratio, C/D horizontal diameter ratio and C/D vertical diameter ratio. The disc retinal pigment epithelium (RPE) angle was observed too. Results Among 35 eyes in VKH group, 31 eyes (88.57%) had retinal detachment next to the disc, 3 eyes (8.57%) had serrated inner limiting membranes of the disc. Twenty eyes (64.52%) had highly reflective points, lines, or membrane-like structures in the retinal detachment areas. No such signs appeared in ON patients. Compared with ON group, the optic cup area, C/D area ratio, C/D horizontal diameter ratio and C/D vertical diameter ratio were bigger, the thickness of mean CP-RNFL and the superior, inferior quadrants of CP-RNFL were thinner, disc RPE angles was smaller in VKH group (P＜0.05). Compared with control group, the disc area, optic cup area, rim area were bigger, C/D vertical diameter ratio was smaller, the mean CP-RNFL and 4 quadrants CP-RNFL were thicker, disc RPE angles was smaller in VKH group (P＜0.05); the disc area, optic cup area, C/D area ratio, C/D horizontal diameter ratio and C/D vertical diameter ratio were smaller, the mean CP-RNFL and 4 quadrants CP-RNFL were thicker, disc RPE angles was bigger in VKH group (P＜0.05). Conclusions VKH patients have smaller disc RPE angles and more chance to develop retinal detachment next to disc than ON patients. The C/D area ratio, C/D horizontal diameter ratio and C/D vertical diameter ratio are bigger, the mean CP-RNFL and the superior, inferior quadrants of CP-RNFL are thinner in VKH eyes.
Neuromyelitis optica spectrum disorders (NMOSD) are a group of inflammatory disorders of the central nervous system characterized by episodes of immune-mediated demyelination and axonal damage mainly involving optic nerves and spinal cord. Neuromyelitis optica related optic neuritis (NMO-ON) is a common neuro-ophthalmic disease which often results in permanent blindness. The discovery of aquaporin 4 antibodies confirms that neuromyelitis optica is a distinct disease entity different from multiple sclerosis. In patients with NMO-ON, the correct therapeutic approach has to recognize two distinct clinical situations: treatment of the acute attacks and prevention of the relapses. With the in-depth study of the pathogenesis of NMOSD, new treatments are emerging in different targets of the disease. This review gives an update of latest treatment of NMO-ON, emphasizing both current situation and future immunotherapy strategies.
Objective To explore underlying causes of presumptive optic neuritis (ON) in children. Methods Retrospective study of continuous cases with presumed diagnosis of optic neuritis in childhood. Results 104 cases(65.8%) met ON criteria in this cohort of children, among wh ich 80 cases (76.9%) were considered as idiopathic demyelinating optic neuritis (IDON). Infectious optic neuritis and inflammatory optic neuropathy were found on 3 cases respectively. The cause of 18 cases remains unknown. Leber hereditary optic neuropathy and non-organic visual acuity loss account most of the 54 case s misdiagnosed as optic neuritis. Conclusions As in adult patients, idiopathic demyelinating optic neuritis is the most common pathogeny of optic neuritis in children, while infectious events were more common in children. Leber hereditary optic neuropathy and nonorganic visual acuity loss were the most common disease confused with optic neuritis in childhood. Some rare disease in childhood which can cause optic nerve lesion should also be considered. (Chin J Ocul Fundus Dis, 2008,24：95-98)
Objective To observe the clinical features and visual function of recurrent neuromyelitis optica (NMO). Methods Thirty-four patients with NMO were enrolled in this retrospective case series study. The patients included two males and 32 females. The average first onset age was (35.03plusmn;14.56) years old and the average recurrent rate were (4.24plusmn;2.45) times. The recurrent rate of optic neuritis (ON) ranged from two to 12 times. The recurrent rate of ON was two times in 15 eyes of 10 patients, ge;three times in 37 eyes of 24 patients. Vision acuity, direct ophthalmoscope, fundus pre-set lens examination, visual field and visual evoked potential (VEP) were evaluated. Clinical features were observed. The abnormal rate of optic nerve including optic edema and atrophy; abnormal rate of visual field including decreasing retinal sensitivity, central and paracentral scotoma, ring scotoma, half field defects, tunnel visual field, visual field centrality constriction; abnormal rate of VEP including Prolonged latent phase and/or decreasing amplitude of P100 wave from patients of first episode or recurrence was analyzed. Serum NMO-IgG was detected from 28 patients by indirect immunofluorescence technique to observe its positive rate. Results All patients were characterized by repeated episodes of ON and myelitis. The main clinical feature of ON was visual loss, and the main clinical features of myelitis included sensory disability, dyskinesia and vesicorectal disorder. Blindness rate was 41.67% after the first attack of ON, 33.33% after two relapses, and 64.86% after ge; three relapses. The difference of blindness rate between first attack and two episodes was not significant (chi;2=0.270,P=0.603). However, the blindness rate in patients having ge; three episodes was significantly higher than those having two episodes (chi;2=4.300,P=0.038). With recurrence rate increasing, the abnormal rate of the optic nerve (chi;2=6.750,P=0.034）and VEP（chi;2=6.990,P=0.030）increased. But the abnormal rate of visual field did not increase along with recurrent rate (chi;2=0.660,P=0.718). Seropositive rate of NMO-IgG did not differ significantly between patients with first attack ON and that with recurrent ON (chi;2=1.510,P=0.470). But the seropositive patients had significantly higher bilateral blindness rate than seronegative patients (chi;2=5.063,P=0.027). Conclusions NMO are characterized by recurrent ON and myelitis. Visual loss, sensory disability, dyskinesia and vesicorectal disorder are the main clinical features. With recurrence rate increasing, the blindness rate, abnormalities the optic nerve and the abnormity rate of VEP increase. Seropositive recurrent NMO patients have higher bilateral blindness rate than seronegative patients.
Objective To construct and evaluate a screening and diagnostic system based on color fundus images and artificial intelligence (AI)-assisted screening for optic neuritis (ON) and non-arteritic anterior ischemic optic neuropathy (NAION). MethodsA diagnostic test study. From 2016 to 2020, 178 cases 267 eyes of NAION patients (NAION group) and 204 cases 346 eyes of ON patients (ON group) were examined and diagnosed in Zhongshan Ophthalmic Center of Sun Yat-sen University; 513 healthy individuals of 1 160 eyes (the normal control group) with normal fundus by visual acuity, intraocular pressure and optical coherence tomography examination were collected from 2018 to 2020. All 2 909 color fundus images were as the data set of the screening and diagnosis system, including 730, 805, and 1 374 images for the NAION group, ON group, and normal control group, respectively. The correctly labeled color fundus images were used as input data, and the EfficientNet-B0 algorithm was selected for model training and validation. Finally, three systems for screening abnormal optic discs, ON, and NAION were constructed. The subject operating characteristic (ROC) curve, area under the ROC (AUC), accuracy, sensitivity, specificity, and heat map were used as indicators of diagnostic efficacy. ResultsIn the test data set, the AUC for diagnosing the presence of an abnormal optic disc, the presence of ON, and the presence of NAION were 0.967 [95% confidence interval (CI) 0.947-0.980], 0.964 (95%CI 0.938-0.979), and 0.979 (95%CI 0.958-0.989), respectively. The activation area of the systems were mainly located in the optic disc area in the decision-making process. ConclusionAbnormal optic disc, ON and NAION, and screening diagnostic systems based on color fundus images have shown accurate and efficient diagnostic performance.
Optic neuritis (ON) is one of the symptom of a central nervous system demyelinating, systemic or infectious disease. The pathogenetic mechanism of ON is still not completely clear, and its core is inflammation and immune that occurred in the optic nerve axons, and apoptosis of RGC was induced. Few patients experience recurrent episodes after treatment, presenting a remission - recurrence course of polyphasic disease, named recurrent ON (RON). Two forms of RON have been assigned: recurrent isolated optic neuritis, which is a chronic corticosteroid-dependent optic neuropathy with intermittent acute relapses, and recurrent isolated optic neuritis, which is a non-progressive relapsing ON without steroid dependence. Recurrence of ON causes cumulative damage to the optic nerve lesions and impaired visual signal transmission, thus causing irreversible damage to vision. Therefore, it is very important to have a deep understanding of the pathogenesis of ON and the clinical characteristics of RON, so as to better conduct clinical treatment.
Neuromyelitis optica (NMO) is an autoimmune inflammatory diseases of the central nervous systems (CNS) mainly affecting the optic nerves and spinal cord. It has the characteristics of high recurrence rate and poor prognosis. NMO related optic neuritis is a common neuro-ophthalmic disease which often results in permanent visual loss or even blindness. Aquaporin 4 (AQP4) antibody is a specific and pathogenic autoantibody in NMO patients. Although AQP4 is expressed in multiple tissues, NMO pathology is remarkably limited to the CNS. Corticosteroids and other immunosuppressive drugs are the standard managements for NMO patients, in order to reduce the relapses and the severity of the acute attack. Multiple avenues of investigation in the laboratory have significantly advanced our understanding of NMO pathophysiology, which is helpful for our understanding of immunologic and nonimmunologic mechanisms. Many offer significant means for NMO therapy by selectively targeting pathways. In the future, moving these agents from the bench to the bedside offers the opportunity to identify safe and effective therapies that limit CNS injury and preserve visual function.