Rare presentation of sarcoidosis with optic neuropathy and third nerve palsy

Sarcoidosis is a systemic, idiopathic and granulomatous disease, which most commonly affects the skin, lungs and lymph nodes but can affect virtually any organ. Neurosarcoidosis can be the presenting or the only clinical manifestation accounting for 5%–15% of sarcoid diagnoses. In contrast to uveitis which is the most common ophthalmic manifestation, neuro-ophthalmic signs are uncommon in sarcoidosis. Optic neuropathy is the most common neuro-ophthalmic sign (70% in one series). Sarcoid-related optic neuropathy commonly presents with a picture similar to optic neuritis. Less commonly, optic nerve involvement occurs secondary to compressive lesions, or from direct granulomatous infiltration. Neuroimaging is crucial to identify the location of the lesion. We describe a case of sarcoid-related compressive optic neuropathy and third nerve palsy and highlight the challenging nature of neurosarcoidosis in a patient without a prior diagnosis of the disease.

Papillitis and Neuroretinitis as Atypical Presentations of Ocular Toxoplasmosis

We report three cases of optic nerve toxoplasmisis, an unusual form of ocular toxoplasmosis. In one patient the optic nerve involvement occurred in an eye with a toxoplasmic chorioretinal scar and choroidal neovessels in the supramacular area, subretinal fibrosis, and pigment epitheium detachment. The other two patients had papilledema without healed or active chorioretinal lesions, but both had retinal hemorrhage and macular involvement. The diagnosis was based on clinical examination and elavated serum toxoplama antibodies. Optical coherence tomography helped uncover the structural chorioretinal changes. All three patients were treated with a combination of oral antitoxoplasmic drugs, oral prednisone, and intravitreal injection of bevacizumab. Visual acuity improved in all of them. Optic nerve involvement in ocular toxoplasmosis must be considered when papilledema occurs both in isolation and in the presence of an active or scarred chorioretinal lesion.

Isolated optic nerve involvement in acute lymphoblastic leukaemia: a red flag for early relapse

Acute lymphoblastic leukaemia (ALL) is the most common childhood cancer, with 70%–80% of cases curable with modern chemotherapy. However, 20% of the cases suffer from disease relapse with bone marrow being the most common site. Isolated ocular involvement as the first sign of relapse is extremely rare, occurring in less than 2.2% of cases. The presentation of optic nerve involvement in leukaemia represents a visual emergency and a sign of isolated central nervous system relapse even in the absence of abnormal cerebrospinal fluid cytology. This case highlights the importance of routine ophthalmic screening in ALL even during maintenance phase and prompt initiation of treatment in cases with isolated optic nerve involvement.

The Clinical, Radiologic, and Prognostic Differences Between Pediatric and Adult Patients With Myelin Oligodendrocyte Glycoprotein Antibody-Associated Encephalomyelitis

Purpose: To evaluate the clinical differences between pediatric and adult patients with myelin oligodendrocyte glycoprotein antibody-associated encephalomyelitis (MOG-EM).Methods: We retrospectively reviewed the clinical features of pediatric and adult patients with MOG-EM in our center between November 2015 and October 2020.Results: Twenty-eight pediatric patients and 25 adults were admitted to our study. Bilateral optic neuritis (BON) was the most common initial phenotype in the pediatric group but less common in the adult group (28.57 vs. 0%, p = 0.0119). Almost half of the adult patients presented with neuromyelitis optica spectrum disease (NMOSD), which was less prevalent among the pediatrics (48 vs. 21.43%, p = 0.0414). Visual impairment was the most common symptom in both groups during the initial attack (pediatric group, 39.29%; adult group, 64%) and throughout the full course (pediatric group, 57.14%; adult group, 72%). More pediatric patients suffered from fever than adult patients at onset (pediatric group, 28.57%; adult group, 4%; p = 0.0442) and throughout the full course (pediatric group, 39.29%; adult group, 12%; p = 0.0245). Multiple patchy lesions in subcortical white matter (pediatric group, 40.74%; adult group, 45%), periventricular (pediatric group, 25.93%; adult group, 35%), infratentorial (pediatric group, 18.52%; adult group, 30%) and deep gray matter (pediatric group, 25.93%; adult group, 20%) were frequent in all cases, no significant difference was found between the two groups, while bilateral optic nerve involvement was more frequent in pediatric group (61.54 vs. 14.29%, p = 0.0042) and unilateral optic nerve involvement was higher in adult group (64.29 vs. 15.38%, p = 0.0052). At the last follow-up, adult patients had a higher average EDSS score (median 1.0, range 0–3) than pediatrics (median 0.0, range 0–3), though not significant (p = 0.0752). Patients aged 0–9 years (61.54%) and 10–18 years (70%), and patients presenting with encephalitis/meningoencephalitis (100%) and ADEM (75%) were more likely to recover fully.Conclusions: Visual impairment was the dominant symptom in both pediatric and adult patients, while fever was more frequent in pediatric patients. Data suggested that BON and bilateral optic nerve involvement were more common in pediatric cases whereas NMOSD and unilateral optic nerve involvement were more prevalent in adults. The younger patients and patients presenting with encephalitis/meningoencephalitis and ADEM tended to recover better.

Central vein sign and other radiographic features distinguishing myelin oligodendrocyte glycoprotein antibody disease from multiple sclerosis and aquaporin-4 antibody-positive neuromyelitis optica

Background: Myelin oligodendrocyte glycoprotein antibody disease (MOGAD) can radiographically mimic multiple sclerosis (MS) and aquaporin-4 (AQP4) antibody-positive neuromyelitis optica spectrum disorder (NMOSD). Central vein sign (CVS) prevalence has not yet been well-established in MOGAD. Objective: Characterize the magnetic resonance imaging (MRI) appearance and CVS prevalence of MOGAD patients in comparison to matched cohorts of MS and AQP4+ NMOSD. Methods: Clinical MRIs from 26 MOGAD patients were compared to matched cohorts of MS and AQP4+ NMOSD. Brain MRIs were assessed for involvement within predefined regions of interest. CVS was assessed by overlaying fluid-attenuated inversion recovery (FLAIR) and susceptibility-weighted sequences. Topographic analyses were performed on spinal cord and orbital MRIs when available. Results: MOGAD patients had fewer brain lesions and average CVS+ rate of 12.1%, compared to 44.4% in MS patients ( p = 0.0008). MOGAD spinal cord and optic nerve involvement was lengthier than MS (5.8 vs 1.0 vertebral segments, p = 0.020; 3.0 vs 0.5 cm, p < 0.0001). MOGAD patients tended to have bilateral/anterior optic nerve pathology with perineural contrast enhancement, contrasting with posterior optic nerve involvement in NMOSD. Conclusion: CVS+ rate and longer segments of involvement in the spinal cord and optic nerve can differentiate MOGAD from MS, but do not discriminate as well between MOGAD and AQP4+ NMOSD.

Subclinical anterior optic pathway involvement in early multiple sclerosis and clinically isolated syndromes

Optical coherence tomography (OCT) is gaining increasing relevance in the assessment of patients with multiple sclerosis. Converging evidence point to the view that neuro-retinal changes, in eyes without acute optic neuritis, reflect inflammatory and neurodegenerative processes taking place throughout the CNS. The present study aims at exploring the usefulness of OCT as a marker of inflammation and disease burden in the earliest phases of the disease. Thus, a cohort of 150 consecutive patients underwent clinical, neurophysiological and brain MRI assessment as well as lumbar puncture as part of their diagnostic workup for a neurological episode suggestive of inflammatory CNS disorder; among those 32 patients had another previous misdiagnosed episode. For the present study, patients also received a visual pathway assessment (OCT, visual evoked potentials, visual acuity), measurement of CSF inflammatory markers (17 cytokines-chemokines, extracellular vesicles of myeloid origin), and dosage of plasma neurofilaments. Subclinical optic nerve involvement is frequently found in clinically isolated syndromes by visual evoked potentials (19.2%). OCT reveals ganglion cell layer asymmetries in 6.8% of patients; retinal fibre layer asymmetries, despite being more frequent (17.8%), display poor specificity. The presence of subclinical involvement is associated with a greater disease burden. Second, ganglion cell layer thinning reflects the severity of disease involvement even beyond the anterior optic pathway. In fact, the ganglion cell layer in eyes without evidence of subclinical optic involvement is correlated with Expanded Disability Status Scale, low contrast visual acuity, disease duration, brain lesion load, presence of gadolinium enhancing lesions, abnormalities along motor and somatosensory evoked potentials, and frequency of CSF-specific oligoclonal bands. Third, the inner nuclear layer thickens in a post-acute (1.1–3.7 months) phase after a relapse, and this phenomenon is counteracted by steroid treatment. Likewise, a longitudinal analysis on 65 patients shows that this swelling is transient and returns to normal values after 1 year follow-up. Notwithstanding, the clinical, MRI, serological and CSF markers of disease activity considered in the study are strictly associated with one another, but none of them are associated with the inner nuclear layer. Our findings challenge the current hypothesis that the inner nuclear layer is an acute phase marker of inflammatory activity. The present study suggests that instrumental evidence of subclinical optic nerve involvement is associated with a greater disease burden in clinically isolated syndrome. Neuro-retinal changes are present since the earliest phases of the disease and yield important information regarding the neurodegenerative and inflammatory processes occurring in the CNS.

A clinical study of optic nerve involvement in patients with tuberculosis attending a tertiary health care center in North East

Background: To screen for ocular finding of optic nerve involvement in patients with tuberculosis and documents these findings.Methods: The hospital based observational study was carried out in a tertiary care hospital in Assam for the duration of July 2018 to June 2019 in 384 diagnosed cases of tuberculosis patients who fulfil the inclusion criteria during the study period.Results: 11 cases with optic nerve involvement was found out of 384 tuberculosis patients. Most common presenting complain was blurring of vision. Unilateral involvement was maximum. Most common finding was disc oedema. Ocular TB cases was higher in extrapulmonary TB patients.Conclusions: Diagnosis of ocular Tb is mainly presumptive, based on history, clinical examination, adjunctive diagnostic tests and response to anti tuberculous therapy. Amongst 384 TB cases ocular manifestations were found in 11 cases and therefore, we can conclude that ocular manifestations hold significance in extra pulmonary manifestations of TB. So, TB patients need to have routine ocular examination for the early diagnosis and timely management.

Optical coherence tomography for detection of asymptomatic optic nerve lesions in clinically isolated syndrome

ObjectiveTo evaluate the ability of intereye retinal thickness difference (IETD) measured by optical coherence tomography (OCT) to detect asymptomatic optic nerve involvement in clinically isolated syndrome (CIS).MethodsWe conducted a cross-sectional study of patients who recently presented a CIS (≤4.5 months). All patients underwent OCT and brain/optic nerve MRI. Optic nerve involvement was defined clinically (episode of optic neuritis [ON] or not) and radiologically (optic nerve hypersignal on 3D double inversion recovery [3D-DIR]). We evaluated the sensitivity and specificity of previously published IETD thresholds and report the observed optimal thresholds for identifying symptomatic optic nerve involvement but also for identifying asymptomatic optic nerve involvement (optic nerve hypersignal without ON history). Primary outcomes were ganglion cell–inner plexiform layer (GC-IPL) and peripapillary retinal nerve fiber layer IETD.ResultsThe study group consisted of 130 patients. In the CIS with ON group, 3D-DIR showed a hypersignal in all 41 symptomatic optic nerves and in 11 asymptomatic optic nerves. In the CIS without ON group, 3D-DIR showed a unilateral optic nerve hypersignal in 22 patients and a bilateral optic nerve hypersignal in 7 patients. For the detection of symptomatic and asymptomatic optic nerve lesion, GC-IPL IETD had better performance. We found an optimal GC-IPL IETD threshold ≥2.83 µm (sensitivity 88.2, specificity 83.3%) for the detection of symptomatic lesions and an optimal GC-IPL IETD ≥1.42 µm (sensitivity 89.3%, specificity 72.6%) for the detection of asymptomatic lesions.ConclusionsDetection of asymptomatic optic nerve lesions in CIS requires lower IETD thresholds than previously reported. GC-IPL IETD represents an alternative biomarker to MRI for the detection of asymptomatic optic nerve lesions.Classification of evidenceThis study provides Class I evidence that OCT accurately identifies asymptomatic optic nerve involvement in patients with CIS.