Diffusional kurtosis imaging in differentiating nonarteritic anterior ischemic optic neuropathy from acute optic neuritis.

PURPOSE: We aimed to determine the feasibility of using DKI to characterize pathological changes in nonarteritic anterior ischemic optic neuropathy (NAION) and to differentiate it from acute optic neuritis (ON). METHODS: Orbital DKI was performed with a 3.0 T scanner on 75 patients (51 with NAION and 24 with acute ON) and 15 healthy controls. NAION patients were further divided into early and late groups. The mean kurtosis (MK), axial kurtosis (AK), radial kurtosis (RK), mean diffusivity (MD), fractional anisotropy (FA), radial diffusivity (RD), and axial diffusivity (AD) were calculated to perform quantitative analyses among groups; and receiver operating characteristic curve analyses were also performed to determine their effectiveness of differential diagnosis. In addition, correlation coefficients were calculated to explore the correlations of the DKI-derived data with duration of disease. RESULTS: The MK, RK, and AK in the affected nerves with NAION were significantly higher than those in the controls, while the trend of FA, RD, and AD was a decline; in acute ON patients, except for RD, which increased, all DKI-derived kurtosis and diffusion parameters were significantly lower than controls (all P < 0.008). Only AK and MD had statistical differences between the early and late groups. Except for MD (early group) and FA, all other DKI-derived parameters were higher in NAION than in acute ON; and parameters in the early group showed better diagnostic efficacy in differentiating NAION from acute ON. Correlation analysis showed that time was negatively correlated with MK, RK, AK, and FA and positively correlated with MD, RD, and AD (all P < 0.05). CONCLUSION: DKI is helpful for assessing the specific pathologic abnormalities resulting from ischemia in NAION by comparison with acute ON. Early DKI should be performed to aid in the diagnosis and evaluation of NAION.

Analysis of the initial orbital MRI in aquaporin-4 antibody-positive optic neuritis (AQP4-ON): lesion location and lesion length can be predictive of visual prognosis.

PURPOSE: Despite mounting evidence indicating that aquaporin-4 antibody-positive optic neuritis (AQP4-ON) presents a less favorable prognosis than other types of optic neuritis, there exists substantial heterogeneity in the prognostic outcomes within the AQP4-ON cohort. Considering the persistent debate over the role of MRI in assessing the prognosis of optic neuritis, we aim to investigate the correlation between the MRI appearance and long-term visual prognosis in AQP4-ON patients. METHODS: We retrospectively reviewed the ophthalmological and imaging data of AQP4-ON patients admitted to our Neuro-ophthalmology Department from January 2015 to March 2018, with consecutive follow-up visits for a minimum of 3 years. RESULTS: A total of 51 AQP4-ON patients (59 eyes) meeting the criteria were enrolled in this research. After assessing the initial orbital MR images of each patient at the first onset, we observed the involvement of the canalicular segment (p < 0.001), intracranial segment (p = 0.004), optic chiasm (p = 0.009), and the presence of LEON (p = 0.002) were significantly different between recovery group and impairment group. For quantitative measurement, the length of the lesions is significantly higher in the impairment group (20.1 ± 9.3 mm) than in the recovery group (12.5 ± 5.3 mm) (p = 0.001). CONCLUSION: AQP4-ON patients with involvement of canalicular, intracranial segment and optic chiasm of the optic nerve, and the longer range of lesions threaten worse vision prognoses. Timely MR examination during the initial acute phase can not only exclude the intracranial or orbital mass lesions but also indicate visual prognosis in the long term.

Oculomotor Nerve Palsy Due to Unusual Causes.

BACKGROUND: An isolated oculomotor nerve (CN III) palsy is a diagnostic concern because of the potential for serious morbidity or life-threatening causes. We present 5 unusual causes of oculomotor nerve palsy that escaped initial diagnosis in order to raise awareness of their associated features that will facilitate correct diagnosis. METHODS: This study consisted of a retrospective analysis of clinical features and imaging of 5 patients who were referred for neuro-ophthalmologic evaluation with presumed diagnosis of oculomotor nerve palsy of unknown reasons. RESULTS: A complete CN III palsy and an inferior division CN III palsy were diagnosed with a schwannoma in the cavernous sinus and orbital apex portion, respectively; a middle-aged woman with aberrant regeneration was found to have a small meningioma; an adult man with ptosis was diagnosed with cyclic oculomotor paresis with spasms; and a patient after radiation was diagnosed with neuromyotonia. CONCLUSIONS: Localizing the lesion of oculomotor nerve palsy and careful examination of the imaging is crucial. Aberrant regeneration, cyclic pupil changes, and past medical history of amblyopia, strabismus, or radiation are also very helpful for diagnosis.

Role of Diffusional Kurtosis Imaging in Differentiating Neuromyelitis Optica-Related and Multiple Sclerosis-Related Acute Optic Neuritis: Comparison With Diffusion-Weighted Imaging.

PURPOSE: The discrimination between neuromyelitis optica (NMO)- and multiple sclerosis (MS)-related acute optic neuritis (ON) after the first presentation is difficult in clinical practice. Through a comparison with diffusion-weighted imaging using readout-segmented echo-planar imaging (RESOLVE-DWI), our aim was to determine the feasibility of diffusional kurtosis imaging (DKI) for differential diagnosis. MATERIALS AND METHODS: Orbital DKI and RESOLVE-DWI in a 3.0-T scanner were performed on 37 patients with acute ON (15 NMO-related and 22 MS-related). The mean kurtosis (MK), axial kurtosis (AK), radial kurtosis (RK), mean diffusivity (MD), and apparent diffusion coefficient (ADC) were calculated for quantitative analyses, and receiver operating characteristic curve analyses were also performed to determine their abilities to differentiate the 2 conditions. RESULTS: The intraclass correlation coefficients among observers were 0.842, 0.885, 0.828, 0.871, and 0.942 for MK, RK, AK, MD, and ADC, respectively, in the affected nerve group and 0.890, 0.840, 0.832, 0.934, and 0.941 in the unaffected nerve group. Regarding the comparisons of the DKI and RESOLVE-DWI parameters among the groups, the mean MK, RK, AK, MD, and ADC values were significantly lower in the affected groups (all, P < 0.001). Furthermore, the MK, RK, MD, and ADC values were significantly lower in the NMO-ON group than in the MS-ON group (P = 0.001, 0.002, 0.013, and <0.001, respectively), and no significant differences were found in the AK values (P = 0.064). In addition, establishing MK ≤ 0.843 as the diagnostic criterion for NMO-related acute ON provided the highest sensitivity (90.5%), whereas the highest specificity (91.3%) was obtained using RK ≤ 0.784 as the diagnostic criterion. CONCLUSIONS: Diffusional kurtosis imaging is helpful for differentiating NMO-related acute ON from MS-related acute ON, and it can achieve more agreeable sensitivity and specificity than RESOLVE-DWI in differential diagnosis.

Neurosarcoidosis presenting as CRVO combined CRAO: a biopsy-proven case report of a Chinese patient.

BACKGROUND: Neurosarcoidosis is a rare systemic disorder that can affect the eye and other organs, including the central nervous system. Neurosarcoidosis infiltrating the optic nerve presenting as central retinal vein occlusion combined with artery ischaemia has not been reported in the literature previously. We describe a Chinese patient presenting with acute monocular vision loss, in whom an optic nerve biopsy confirmed the diagnosis of neurosarcoidosis. CASE PRESENTATION: A 47-year-old woman complained of acute decreased vision in her left eye over the course of 1 month. She reported that her vision deteriorated quickly within first 3 days of consulting an ophthalmologist at a local hospital. She was diagnosed with central retinal vein occlusion after funduscopic examination and fundus fluorescein angiography, and the vision in her left eye further deteriorated to no light perception. An orbital magnetic resonance imaging showed an abnormal T1-weighted image of the optic nerve after contrast enhancement. She was referred to a neuro-ophthalmologist for further evaluation. After routine blood tests ruled out infectious and metastatic diseases, she was prescribed 500 mg/d methylprednisolone for 5 days, but her vision did not improve. As she could still not perceive light, an optic nerve biopsy was performed, and the histopathology revealed non-necrotising granuloma that was consistent with neurosarcoidosis. CONCLUSIONS: Isolated optic nerve infiltration by neurosarcoidosis without the involvement of the central nervous system or other systemic organs is challenging to diagnose. Biopsy of the optic nerve sheath is crucial for the final diagnosis of neurosarcoidosis. Therefore, a comprehensive ophthalmologic and systemic examination and work-up for inflammation of the eye, chest, and central nervous system should be conducted for atypical cases.

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.

BACKGROUND: To report the clinical and genetic findings from seven Chinese patients with choroideremia. METHODS: Five hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive ophthalmic examinations. Next-generation sequencing (NGS) was performed on samples from all patients. Detailed clinical characteristics of the patients with choroideremia identified in this study were assessed using multimodal imaging. RESULTS: Seven patients with choroideremia were identified, and six novel variants in CHM (c.1960 T > C p.Ter654Gln, c.1257del p.Ile420*fs1, c.1103_1121delATGGCAACACTCCATTTTT p.Tyr368Cysfs35, c.1414-2A > T, and c.1213C > T p.Gln405Ter, c.117-1G > A) were revealed. All variants were deleterious mutations: two were frameshifts, two were nonsense mutations, two were splicing mutations, and one was a readthrough mutation. The clinical phenotypes of these patients were markedly heterogeneous, and they shared many common clinical features with RP, including night blindness, constriction of the visual field and gradually reduced visual acuity. However, patients with choroideremia showed pigment hypertrophy and clumping, and chorioretinal atrophy, and a majority of patients with choroideremia presented with retinal tubulations in the outer layer of the retina. CONCLUSIONS: We provide a detailed description of the genotypes and phenotypes of seven patients with choroideremia who were accurately diagnosed using NGS. These findings provide a better understanding of the genetics and phenotypes of choroideremia.

Differentiating Neuromyelitis Optica-Related and Multiple Sclerosis-Related Acute Optic Neuritis Using Conventional Magnetic Resonance Imaging Combined With Readout-Segmented Echo-Planar Diffusion-Weighted Imaging.

PURPOSE: In clinical practice, acute optic neuritis (ON) associated with the development of neuromyelitis optica (NMO) after the first attack is often indistinguishable from that associated with multiple sclerosis (MS). We aimed to determine the optimal combination of features derived from conventional magnetic resonance imaging (MRI) and diffusion-weighted imaging using readout-segmented echo-planar imaging (RESOLVE-DWI) for the differentiation of these conditions. MATERIALS AND METHODS: Orbital conventional MRI and RESOLVE-DWI were performed using a 3.0-T scanner on 54 patients with acute ON (26 NMO-related and 28 MS-related). The features detected by conventional MRI (including laterality, the enhancement pattern, and the extent and position of involvement) and the apparent diffusion coefficient (ADC) measurements were retrospectively compared between the NMO-related and MS-related groups. A multivariate logistic regression analysis was used to identify the most significant variables, and receiver operating characteristic curve analyses were performed to determine the ability of a combined diagnostic model based on the qualitative and quantitative characteristics identified in this study to differentiate the 2 conditions. RESULTS: The multivariate logistic regression analyses indicated that the presence of chiasm involvement and lower ADC values were significantly associated with NMO-related acute ON compared with MS-related acute ON (P = 0.037 and 0.008, respectively). The diagnostic criterion of chiasm involvement or "ADC < 791 × 10 mm/s and chiasm involvement" had the highest specificity (96.9%), and "ADC < 791 × 10 mm/s or chiasm involvement" showed the optimal sensitivity (77.8%) for differentiating NMO-related from MS-related acute ON. CONCLUSIONS: Conventional MRI RESOLVE-DWI is helpful for differentiating NMO-related acute ON from MS-related acute ON. The combination of the ADC value chiasm involvement appears to be effective for discriminating these 2 types of acute ON.

Giant cell arteritis presenting as bilateral anterior ischemic optic neuropathy: a biopsy-proven case report in Chinese patient.

BACKGROUND: Giant cell arteritis (GCA) is a systemic vasculitis of medium and large-size vessels and can led to permanent visual loss in elderly patients. GCA is very rare among Asians. We report a Chinese patient presenting with acute bilateral anterior ischemic optic neuropathy, and the temporal artery biopsy proved the diagnose of GCA. CASE PRESENTATION: A 77-year-old Chinese man presented with sudden bilateral blindness for 5 days with a severe headache. Funduscopic examination revealed bilateral optic disc swollen with "chalky white" pallid appearance. The blood tests showed the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) elevated dramatically. The color duplex ultrasonography (CDUS) of the superficial temporal artery revealed the inflammation of the vessel wall as a "halo sign". The temporal artery biopsy was perfumed and the pathology revealed luminal occlusion with multinuclear giant cell infiltration. The patient was treated with intravenous methylprednisolone for 3 days and oral prednisone weaning for 12 months. The visual acuity remained no light perception at one year follow-up. CONCLUSIONS: Although very rare in Asian, GCA can led to permanent blindness in elderly Chinese caused by anterior ischemic optic neuropathy. The noninvasive CDUS might be a promising technique for diagnose GCA in highly suspected patients.

Takayasu arteritis presenting as isolated anterior ischemic optic neuropathy.

Takayasu arteritis (TA) is a systemic vasculitis of unknown etiology that affects the aorta and its primary branches or large arteries in the proximal upper or lower extremities. Ocular manifestations of TA include microaneurysm formation, small-vessel dilation, arteriovenous anastomosis, retinal ischemia, and neovascular glaucoma. We herein report a case involving a 23-year-old Asian woman who presented with isolated acute anterior ischemic optic neuropathy and was initially misdiagnosed with optic neuritis. The stenosis and occlusion of the aorta and other proximal arteries on angiography confirmed the diagnosis of TA.

Diffusion-weighted imaging helps differentiate multiple sclerosis and neuromyelitis optica-related acute optic neuritis.

PURPOSE: To evaluate the apparent diffusion coefficient (ADC) values between multiple sclerosis (MS) and neuromyelitis optica (NMO)-related acute optic neuritis (ON) patients and predict their optic nerve atrophy of optic coherence tomography (OCT) parameters. MATERIALS AND METHODS: Nineteen MS and 15 NMO-related acute ON patients who underwent a diffusion-weighted imaging sequence in 3.0 Tesla MR scanner and a follow-up OCT examination after 6 months were included. The ADC values, thickness of the retinal nerve fiber layer (RNFL) and the macular ganglion cell complex (GCC) between MS and NMO related ON were assessed. RESULTS: The mean ADC value of the NMO-ON, (0.691 ± 0.195[SD]) × 10-3 mm2 /s, was significantly smaller (P = 0.0133) than that of MS-ON. The mean ADC value of MS-ON, (0.879 ± 0.144) × 10-3 mm2 /s, was significantly smaller (P < 0.0001) than that of control group, (1.025 ± 0.067) × 10-3 mm2 /s. Using an ADC value smaller than 0.830 × 10-3 mm2 /s as the threshold value for differentiating MS-ON from NMO-ON patients, the highest accuracy of 76.7%, with 75.0% sensitivity and 78.3% specificity, was obtained. The ADC value measured at the acute stage of ON was correlated with the thickness of the RNFL (r = 0.441; P = 0.006) and the GCC (r = 0.526; P < 0.0001) after 6 months. CONCLUSION: The ADC value might be helpful for differentiating MS-ON from NMO-ON patients. The decreased ADC value was correlated with optic nerve atrophy on OCT. LEVEL OF EVIDENCE: 3 Technical Efficacy: Stage 2 J. MAGN. RESON. IMAGING 2017;45:1780-1785.

Assessment of nonarteritic anterior ischemic optic neuropathy with intravoxel incoherent motion diffusion-weighted imaging using readout-segmented echo-planar imaging, parallel imaging, and 2D navigator-based reacquisition.

PURPOSE: To determine the feasibility of intravoxel incoherent motion (IVIM) for characterizing perfusion properties and its potential diagnostic utility for nonarteritic anterior ischemic optic neuropathy (NAION). IVIM diffusion-weighted imaging is a promising technique that can measure perfusion and diffusion characteristics simultaneously in a noninvasive manner. MATERIALS AND METHODS: Orbital IVIM in a 3.0T scanner was performed on 33 patients with NAION and 15 controls using readout-segmented echo-planar imaging, parallel imaging, and 2D navigator-based reacquisition (RESOLVE-IVIM). Both visual field (VF) and visual acuity (VA) examinations were performed in 19 of the patients. The vascular volume fraction (f), diffusion coefficient (D), and pseudodiffusion coefficient (D*) were calculated for quantitative analysis. Additionally, correlation analyses of IVIM parameters with visual function were also performed. RESULTS: Affected optic nerves showed significantly lower f values than both unaffected contralateral nerves of the patients and nerves of the controls (P < 0.0001), and no significant difference for f was found between unaffected contralateral nerves and nerves of the controls (P = 0.1602). In addition, D and D* values showed no significant differences among the three groups (P = 0.0979, 0.0600, 0.6136 for D and 0.1779, 0.6253, 0.4743 for D*). Correlation analysis only demonstrated significant correlations between f values and the mean deviation of the visual field (r = 0.576, P = 0.0051). CONCLUSION: RESOLVE-IVIM measurement may reflect the perfusion abnormality and visual function impairment in NAION patients, demonstrating its potential application for the diagnosis and clinical evaluation of NAION. LEVEL OF EVIDENCE: 1 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2017;46:1760-1766.

Role of coronal high-resolution diffusion-weighted imaging in acute optic neuritis: a comparison with axial orientation.

PURPOSE: Through a comparison with the axial orientation, we aimed to evaluate the role of coronal high-resolution diffusion-weighted imaging (DWI) in acute optic neuritis based on diagnostic accuracy and the reproducibility of apparent diffusion coefficient (ADC) measurements. METHODS: Orbital DWI, using readout-segmented, parallel imaging, and 2D navigator-based reacquisition (RESOLVE-DWI), was performed on 49 patients with acute vision loss. The coronal (thickness = 3 mm) and axial (thickness = 2 mm) diffusion images were evaluated by two neuroradiologists retrospectively. The sensitivity, specificity, and accuracy were calculated through diagnostic test; the inter- and intra-observer reliabilities were assessed with a weighted Cohen's kappa test. In addition, the agreement of ADC measurement among observers was evaluated by the intra-class correlation coefficient (ICC), coefficient of variation (CV), and Bland-Altman plots. Comparison of ADC values was also performed by unpaired t test. RESULTS: Among the 49 patients, 47 clinically positive optic nerves and 51 clinically negative optic nerves were found. The sensitivity, specificity, and accuracy were 85.1/87.2%, 90.2/94.12%, and 87.8/90.8%, respectively, for coronal RESOLVE-DWI and 83.0/85.1%, 66.7/76.5%, and 75.5/79.6%, respectively, for axial RESOLVE-DWI. The inter-observer kappa values were 0.710 and 0.806 for axial and coronal RESOLVE-DWI, respectively, and the intra-observer kappa values were 0.822 and 0.909, respectively (each P < 0.0001). Regarding the reproducibility of ADC measurements on axial and coronal RESOLVE-DWI, the ICCs among observers were 0.846 and 0.941, respectively, and the CV values were 7.046 and 4.810%, respectively. Bland-Altman plots revealed smaller inter-observer variability on coronal RESOLVE-DWI. ADC values were significantly lower in positive group (each P < 0.0001). CONCLUSION: Higher specificity and better reproducibility of ADC measurements were found for coronal RESOLVE-DWI, which demonstrated the feasibility of the use of coronal RESOLVE-DWI to examine acute optic neuritis patients.

Diffusion-weighted imaging using readout-segmented echo-planar imaging, parallel imaging, and two-dimensional navigator-based reacquisition in detecting acute optic neuritis.

PURPOSE: To evaluate the accuracy of diffusion-weighted imaging (DWI) in comparison to contrast-enhanced, fat-suppressed T1 -weighted imaging (CET1WI) in detecting acute optic neuritis (ON). MATERIALS AND METHODS: The clinical data and magnetic resonance imaging (MRI) findings of 42 patients who presented with decreased vision were retrospectively reviewed. Both 3.0T MRI DWI and CET1WI orbital imaging studies were performed. Two neuroradiologists independently evaluated the DWI and CET1WI. The sensitivity, specificity, and accuracy of the DWI and CET1WI were individually calculated using the clinical diagnosis as the reference standard. The interobserver and intraobserver reliability of DWI and CET1WI were assessed by using a weighted Cohen's kappa (κ) test; a value of P < 0.05 was set as the threshold for statistical significance. RESULTS: Of the 42 patients, 34 patients (41 nerves) had clinically confirmed acute ON, two had ischemic optic neuropathy, and three had chronic recurrent ON. The sensitivities of DWI and CET1WI for acute ON were 82.9-82.9% and 68.3-85.4%, respectively; the specificities were 81.4-83.7% and 79.1-93.0%, respectively; and the accuracies were 82.1-83.3% and 82.1-90.0%, respectively. The interobserver kappa values were 0.596-0.643 and 0.694-0.734 for DWI and CET1WI, respectively; the intraobserver kappa values were 0.809-0.905 and 0.834-0.924 for DWI and CET1WI, respectively (each P < 0.0001). CONCLUSION: Given that its sensitivity and specificity are similar to those of dedicated CET1WI for acute ON, DWI can play an important complementary role in detecting acute ON, especially in atypical ON cases, and can provide a quantitative modality that can be used to evaluate axonal damage in the optic nerves.

Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.

BACKGROUND: Sialidosis is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetyl neuraminidase. The macular cherry-red spot, which could be important for diagnosis, is a distinctive feature of its ocular manifestation. We evaluated the fundus autofluorescence (FAF) and optical coherence tomography (OCT) images of a juvenile patient who presented with vision decrease and was later confirmed with genetic sialidosis. CASE PRESENTATION: A 13-year-old Chinese male presented with bilateral decreased vision over the past 2 years before his initial visit. Funduscopic examination revealed a macular cherry-red bilateral spot. FAF showed hyperreflective areas surrounding a central hyporeflective fovea in both eyes. OCT revealed increased reflectivity in the ganglion cell layer in both maculae without a definite boundary between the hyperreflective and normal areas. These findings suggested that lipofuscin had accumulated in the retinal ganglion cells, which is a distinctive ocular feature in metabolic central nervous system (CNS) disorders. He was later confirmed with genetic sialidosis. CONCLUSIONS: FAF and OCT images are very sensitive and useful techniques for diagnosing lysosomal storage disease of the CNS, and are helpful in evaluating the extent of damage in retinal ganglion cells.

Papilledema as the initial presentation of Castleman disease.

Castleman disease is a rare lymphoproliferative disorder that has many presentations ranging from unifocal or multifocal mass lesions to a monoclonal gammopathy. It has features that may overlap with osteosclerotic myeloma or POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes) syndrome. We report a patient with papilledema, enlarged lymph nodes, and monoclonal IgG, who subsequently developed a polyneuropathy. Biopsy of enlarged mediastinal lymph nodes confirmed the diagnosis of Castleman disease.