Search Results (14)

Objectives: This review explores the role of swept-source optical coherence tomography (OCT) in diagnosing and monitoring optic nerve neuropathy in Wernicke’s encephalopathy (WE) due to hyperemesis gravidarum, including a case of neuropathy from intractable vomiting in pregnancy. Methods: A literature search was conducted in the PubMed database to select high-quality reviews and original articles on the use of swept-source OCT for assessing optic nerve involvement in WE due to hyperemesis gravidarum. Results: WE is a potentially fatal neuropsychiatric syndrome caused by thiamine deficiency due to various causes, like alcoholism, malnutrition, and prolonged parenteral nutrition. This condition can cause neurological disorders such as imbalance, altered mental status, nystagmus, and ophthalmoplegia. Sometimes, there is also a deterioration of visual acuity with swelling of the optic disc. OCT is a non-invasive imaging tool that can detect optic nerve involvement in WE by assessing peripapillary retinal nerve fiber layer (pRNFL) thickness. In the acute phase, optic disc edema and increased pRNFL thickness may be observed, while chronic-phase changes include optic nerve atrophy and pRNFL thinning. WE may occur in the course of hyperemesis gravidarum in pregnant women. We present a case of a 23-year-old woman at 14 weeks of gestation with WE due to severe hyperemesis gravidarum, manifesting as visual impairment and neurological deficits. MRI confirmed the diagnosis, while OCT revealed transient pRNFL thickening followed by optic nerve atrophy. Conclusions: Early diagnosis and thiamine supplementation are crucial to preventing severe complications. OCT is a valuable tool for detecting and tracking optic nerve changes in WE. Full article

Cat-scratch disease (CSD) is an infectious disease caused by Bartonella henselae, presenting with fever and lymphadenopathy following contact with felines. The ocular manifestations include neuroretinitis, characterised by optic nerve swelling and a macular star. Case Presentation: We discuss a case of neuroretinitis that presented atypically, without a macular star. There was an initial suspicion of Bartonella, but the serology was negative. Our patient was eventually empirically treated for infective neuroretinitis based on a positive contact history (recently scratched by one of his three pet cats). There was progression to a macular star upon serial dilated fundus examination, and the repeated serology one week after symptom onset showed rising titres, supporting a diagnosis of CSD. Conclusions: A judicious review of systems, repeat assays, serial dilated fundus examination, and early ophthalmic evaluation are useful in cases of suspected neuroretinitis, remaining an important differential in the evaluation of sudden-onset painless vision loss and unilateral disc swelling. Full article

Purpose: To analyze the etiology and implications of optic disc swelling in cancer patients treated at a specialized tertiary cancer center in Jordan. Methods: This was a retrospective study of all cancer patients who had optic disc swelling between January 2019 and December 2020 at King Hussein Cancer Center (KHCC). Patients’ data included age, sex, laterality, visual acuity, and the underlying cause and management for the optic disc swelling. Results: Optic disc swelling was present in 58 cancer patients (96 eyes), with 38 (65%) having bilateral involvement. Among these, 33 (57%) were female, and 43 (74%) were ≤40 years old. At diagnosis, 58 (63%) eyes had a best-corrected visual acuity (BCVA) better than 0.5, improving to 73 (76%) eyes at the last follow-up. High intracranial pressure (ICP) was the most common primary cause (30 patients/52%), followed by tumor infiltration of the optic nerve (10 patients/17%), optic nerve compression (7 patients/12%), and optic nerve inflammation (5 patients/9%). Four patients had pseudopapilledema. Among the 30 patients with high ICP, CNS tumors were predominant (21 patients/70%), with only 3 having idiopathic intracranial hypertension. Medications, including ATRA (All-Trans Retinoic Acid) and systemic steroids, contributed to increased ICP in six patients (20%). BCVA was less than 0.5 in all eyes (100%) affected by tumor infiltration, optic nerve inflammation, and ischemic optic neuropathy, while only eight eyes (14%) with optic disc swelling due to elevated ICP had a BCVA less than 0.5 (p < 0.0001). Management included steroids (53 patients/91%), acetazolamide (30 patients/52%), chemotherapy (20 patients/34%), radiation therapy (13 patients/22%), frequent lumbar punctures (12 patients/21%), and surgery (28 patients/48%). Visual acuity improved in 40 eyes (42%), with only 4 eyes (4%) experiencing deterioration. At a 12-month median follow-up period, 11 (19%) patients were dead, 10 (10%) eyes had poor vision (BCVA less than 0.1), and 21 (22%) eyes had BCVA 0.5 or better. Conclusions: Various underlying pathologies can induce optic disc swelling in cancer patients, a grave condition capable of causing vision loss. Notably, tumor infiltration of the optic nerve tends to result in more profound visual impairment compared to papilledema due to elevated ICP. Timely detection is crucial, and immediate symptomatic treatment followed by addressing the underlying cause is essential to prevent irreversible optic nerve damage and vision loss in cancer patients. Full article

Experimental autoimmune uveitis (EAU) is the most commonly used animal model to study the progression of chronic uveitis and to test various therapies to treat the disease. However, to accurately evaluate the effectiveness of such treatments, a grading system that combines the latest imaging techniques with definitive quantitative grading thresholds is required. This study aimed to develop a comprehensive grading system that objectively evaluates EAU progression in C57BL/6J mice. EAU was induced following immunisation with interphotoreceptor retinoid-binding protein (IRBP) and pertussis toxin. Weekly fundus and optical coherence tomography (OCT) images were acquired over 12 weeks using a Micron IV imaging system. Each mouse was graded (between 0 to 4) based on changes seen on both the fundus (optic disc, retinal blood vessels and retinal tissue) and OCT (vitreous and retinal layers) images. A total EAU response (with a maximum score of 48) was calculated for each mouse based on the sum of the individual scores each week. Analysis of the clinical scores depicted a gradual increase in inflammatory signs including optic disc and vascular swelling, leukocyte infiltration in the vitreous, lesions in the retina and formation of granulomas and hyper-reflective foci in the retinal layers in EAU mice, with most signs reaching a plateau towards the end of the study period. Development of these signs into sight-threatening complications such as optic disc atrophy, structural damage to the retina and subretinal oedema were noted in 80–90% of mice suggesting consistent disease induction. Overall, a comprehensive and objective grading system encompassing all pathologies occurring in EAU mice was developed to enhance the preclinical evaluation of novel uveitis treatments. Full article

Our study evaluates the sensitivity of papilledema as a sign of high intracranial pressure in children. Patients younger than 18 years old, diagnosed with increased ICP, and who had received dilated fundus examination between 2019 and 2021 were retrospectively reviewed. Factors including the patient’s age, sex, aetiology, duration of signs or symptoms, intracranial pressure (ICP), and presence of papilledema were evaluated. We included 39 patients in this study, whose mean age was 6.7 years. The 31 patients without papilledema had a mean age of 5.7 years, and 8 patients (20%) with papilledema had a mean age of 10.4 (p < 0.037). The mean duration of signs or symptoms was nine weeks in patients without papilledema and seven weeks in those with papilledema (p = 0.410). The leading causes of increased ICP with papilledema were supratentorial tumor (12.5%), infratentorial tumor (33.3%), and hydrocephalus (20%) (p = 0.479). Papilledema was statistically significantly more common in older patients. We found no statistical significance between sex, diagnosis, and symptoms. The relatively low incidence of papilledema (20%) in our study shows that papilledema’s absence does not ensure the absence of increased ICP, especially in younger patients. Full article

Background: Optic neuritis (ON) is an inflammatory condition of the optic nerve. ON is associated with development of demyelinating diseases of the central nervous system (CNS). CNS lesions visualized by magnetic resonance imaging (MRI) and the finding of oligoclonal IgG bands (OB) in the cerebrospinal fluid (CSF) are used to stratify the risk of MS after a “first” episode of ON. However, the diagnosis of ON in absence of typical clinical manifestations can be challenging. Methods and Materials: Here we present three cases with changes in the optic nerve and ganglion cell layer in the retina over the disease course. (1) A 34-year-old female with a history of migraine and hypertension had suspect amaurosis fugax (transient vision loss) in the right eye. This patient developed MS four years later. Optical coherence tomography (OCT) showed dynamic changes of the thickness of peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (GCIPL) over time. (2) A 29-year-old male with spastic hemiparesis and lesions in the spinal cord and brainstem. Six years later he showed bilateral subclinical ON identified using OCT, visual evoked potentials (VEP) and MRI. The patient fulfilled diagnosis criteria of seronegative neuromyelitis optica (NMO). (3) A 23-year-old female with overweight and headache had bilateral optic disc swelling. With OCT and lumbar puncture, idiopathic intracranial hypertension (IIH) was excluded. Further investigation showed positive antibody for myelin oligodendrocyte glycoprotein (MOG). Conclusions: These three cases illustrate the importance of using OCT to facilitate quick, objective and accurate diagnosis of atypical or subclinical ON, and thus proper therapy. Full article

The goal of this study is to describe a rare case of acute systemic lupus erythematosus (SLE) ocular involvement, followed by a rapid deterioration of the overall condition, and to then describe its successful treatment with therapeutic plasma exchange (TPE). In our case, a 21-year-old female, previously diagnosed with SLE, presented with a bilateral decreased vision for one week. Fundus examination and optical coherence tomography revealed subretinal fluid accumulation in both eyes and severe disc swelling with diffuse subretinal hemorrhages and perimacular whitening in the left eye. Despite systemic high-dose steroid therapy, the patient became worse, but immunosuppressive treatment was postponed due to fever and elevated serum leukocytes with the chance of systemic infection. She had undergone therapeutic plasma exchange (TPE) and was successfully treated. Preceding SLE ocular manifestation can be an indicator of the exacerbation of SLE, and TPE can be a treatment option for such progression. Full article

Background: We report a case of atypical unilateral optic neuritis after receiving the BNT162b2 mRNA-based COVID-19 vaccine. Case Presentation: An 86-year-old man complained of blurred vision and decreased visual acuity in his right eye 8 days after receiving the second BNT162b2 mRNA-based COVID-19 vaccine and was referred to our hospital. He also had pain with eye movement. Best corrected visual acuity (BCVA) in the right eye was 20/200 and critical flicker frequency dropped to 16 Hz. Relative afferent pupillary defect was positive and central scotomas were observed on visual field analysis. Fundus examination and SD-OCT revealed optic disc swelling and apparent thickening of the retinal nerve fiber layer around the optic disc in the right eye. Although either an increase in CRP or ESR on laboratory tests, demyelinating lesion on MRI, or positive of anti-MOG antibodies or anti-AQP4 antibodies were not observed, fluorescein angiography presented only hyperfluorescence of the optic disc in the right eye, but there were no findings such as papillary deficiency and choroidal delay that would suggest ischemic optic neuropathy. We diagnosed atypical optic neuritis developed after the SARS-CoV-2 mRNA-based vaccination and initiated oral corticosteroid therapy. One month later, the optic disc swelling disappeared and BCVA improved to 20/100; however, the central scotoma remained and no further improvement in visual function OD was obtained. Conclusions: An atypical acute idiopathic optic neuritis can occur after receiving the second vaccination with BNT162b2, which may present a limited response to corticosteroid therapy. Full article

Idiopathic intracranial hypertension (IIH) is a neurological disorder characterised by optic disc swelling secondary to raised intracranial pressure (ICP) of unknown cause. Obesity is the most established and prevalent risk factor in developed countries. As obesogenic diets are high in calories and nutrient-poor, there may be associated nutritional deficiencies that contribute to the clinical presentation of IIH. Yet none, aside from iron deficiency, are currently included in the inclusion or exclusion criteria for the diagnosis of IIH. Our primary aim was to determine which micronutrient deficiencies, aside from iron deficiency, could present with optic disc swelling associated with or without intracranial hypertension that could potentially meet current IIH diagnostic criteria. To this end, we conducted a systematic search of articles published between 1 January 1980 and 18 December 2020 reporting cases of optic disc swelling associated with micronutrient deficiencies. In total, 65 cases met the eligibility criteria from initial searches: all were case reports and case series with a high risk of bias. Our findings suggest that patients with IIH or unexplained optic disc swelling ought to be screened, investigated, and treated for associated micronutrient deficiencies in vitamin A, B1 and B12; and weight loss interventions in IIH patients ought to promote better nutrition in addition to overall calorie restriction. Full article

(1) Background: Foster Kennedy syndrome (FKS) is an ophthalmological condition characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye. The risk factors for FKS include the presence of mass lesions in radiographic imaging, female gender, and increased body mass index. Differential diagnoses of FKS include tumors and pseudotumor of the frontal lobe and cranial meninges. (2) Methods: We present two cases of FKS diagnosed in February 2021 and December 2021. (3) Results: A 52-year-old male with a history of poor vision in one eye after trauma complained of constant headache. Ocular examination revealed disc pallor in his right eye with disc edema in the contralateral eye. The patient was sent for computerized tomography (CT) and placed on oral prednisolone tablets. The CT scan confirmed the diagnosis of FKS. A 30-year-old female presented to the emergency department for poor vision in her left eye and headache on the left side. Medication included dexamethasone, chloramphenicol, timolol eyedrops, furosemide, and anti-oxidant tablets dispensed from a previous private eye clinic. Ophthalmoscopy showed disc pallor with 0.1 cupping and arteriolar attenuation in both eyes with macular hemorrhages in her left eye. Bilateral papilledema secondary to raised intracranial hyper-tension was suspected. CT scans showed an intracranial mass. (4) Conclusions: These two cases show the importance of ocular examination in the diagnosis of serious systemic conditions. A concise case history, extensive ocular workup, and cranial imaging with magnetic resonance imaging and/or CT scans are indicative of patients showing acute visual loss and retro-orbital pain, which can give rise to the diagnosis of sight-threatening, permanent and fatal conditions, such as FKS. Non-surgical treatments include oral steroidal therapy, radiotherapy, and chemotherapy; however, neurosurgery is normally required. Full article

Huntington’s disease (HD) is a fatal neurodegenerative disorder caused by a polyglutamine expansion in the huntingtin protein. HD-related pathological remodelling has been reported in HD mouse models and HD carriers. In this study, we studied structural abnormalities in the optic nerve by employing Spectral Domain Optical Coherence Tomography (SD-OCT) in pre-symptomatic HD carriers of Caucasian origin. Transmission Electron Microscopy (TEM) was used to investigate ultrastructural changes in the optic nerve of the well-established R6/2 mouse model at the symptomatic stage of the disease. We found that pre-symptomatic HD carriers displayed a significant reduction in the retinal nerve fibre layer (RNFL) thickness, including specific quadrants: superior, inferior and temporal, but not nasal. There were no other significant irregularities in the GCC layer, at the macula level and in the optic disc morphology. The ultrastructural analysis of the optic nerve in R6/2 mice revealed a significant thinning of the myelin sheaths, with a lamellar separation of the myelin, and a presence of myelonoid bodies. We also found a significant reduction in the thickness of myelin sheaths in peripheral nerves within the choroids area. Those ultrastructural abnormalities were also observed in HD photoreceptor cells that contained severely damaged membrane disks, with evident vacuolisation and swelling. Moreover, the outer segment of retinal layers showed a progressive disintegration. Our study explored structural changes of the optic nerve in pre- and clinical settings and opens new avenues for the potential development of biomarkers that would be of great interest in HD gene therapies. Full article

The aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice weekly who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 5 months old and genetically diagnosed with Blau syndrome with CARD15/NOD2 mutation (N670K) at 13 years old. At 10 years old, she began to have uveitis with optic disc swelling in both eyes, resulting in macular degeneration and optic disc atrophy at 17 years old only when etanercept was introduced. Case 2 was a 21-year-old man receiving adalimumab every 2 weeks who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 1.5 years old and genetically diagnosed as Blau syndrome with CARD15/NOD2 mutation (C495Y) at 5 years old. At 8 years old, around the time of adalimumab introduction, he began to show bilateral optic disc swelling which continued until the age of 16 years when the dose of adalimumab was increased. Case 3 was a 20-year-old woman receiving canakinumab every 8 weeks for systemic symptoms such as fever, headache, vomiting, and abdominal pain and later for sensorineural hearing disturbance on both sides. She had been diagnosed genetically with cryopyrin-associated periodic syndrome with NLRP3 mutation (Y859C) at 7 years old. At 5 years old, she was found to have bilateral optic disc swelling, which continued until the age of 10 years when she began receiving canakinumab (IL-1β inhibitor). Bilateral optic disc swelling might be tentatively designated as a plausible common ocular feature, if it occurred, in autoinflammatory diseases to pay more attention to ophthalmic complications in rare diseases. Full article

Purpose: To analyze occurrence and risk factors for macular edema (ME) in juvenile idiopathic arthritis-associated uveitis (JIA-U). Methods: Retrospective analysis of patients with JIA-U at a tertiary referral uveitis center between 2000 and 2019. Epidemiological data and clinical findings before ME onset were evaluated. Results: Out of 245 patients, ME developed in 41 (18%) of the 228 JIA-U patients for whom data documentation was complete during the follow-up (mean 4.0 ± 3.8 years). Risk factors (univariable logistic regression analysis) at baseline for subsequent ME onset included older age at initial documentation at institution (hazard ratio, HR 1.19, p < 0.0001), longer duration of uveitis at initial documentation (HR 1.17, p < 0.0001), worse best-corrected visual acuity (BCVA; HR 2.49, p < 0.0001), lower intraocular pressure (IOP; HR 0.88, p < 0.01), band keratopathy (HR 2.29, p < 0.01), posterior synechiae (HR 2.55, p < 0.01), epiretinal membrane formation (HR 6.19, p < 0.0001), optic disc swelling (HR 2.81, p < 0.01), and cataract (HR 4.24, p < 0.0001). Older age at initial documentation at institution (HR 1.55, p < 0.001), worse BCVA (HR 28.56, p < 0.001), and higher laser-flare photometry (LFM) values (HR 1.003, p = 0.01) were independent risk factors for ME manifestation. Patients with ME revealed significant changes in BCVA, LFM, and IOP and new optic disc swelling at 6 and 3 months before ME onset compared to timepoint of ME occurrence (p < 0.05, each). Conclusion: ME is a common complication of JIA-U. Demographic risk factors and courses of IOP, BCVA, and LFM may indicate patients at risk for ME onset. Full article

Background: To analyze long-term ophthalmic clinical and multimodal imaging findings of disseminated Mycobacterium (M.) chimaera infection after cardiothoracic surgery among the Swiss Cohort. Methods: Systemic and multimodal ophthalmic imaging and clinical findings including rate of recurrence were reviewed and correlated to a previously proposed classification system of choroidal lesions and classification of ocular disease. Main Outcomes Measures: long-term clinical and multimodal ocular imaging findings of M. chimaera. Results: Twelve patients suffering from systemic infection from M. chimaera were included. Mean age at the first ophthalmic examination was 59 years (range from 48 to 66 years). Mean duration of the follow-up was 22.63 ± 17.8 months. All patients presented with bilateral chorioretinal lesions at baseline; 5 patients had additional signs, including optic disc swelling (2), choroidal neovascularization (1), retinal neovascularization (1) and cilioretinal vascular occlusion (1). Four recurrence events after discontinuation or adjustment of the antibiotic treatment were observed. Progressive choroiditis was seen in 5 patients under treatment, 4 of them deceased. Conclusions: Expertise from ophthalmologists is not only relevant but also critical for the assessment of the adverse drug effect of antimycobacterial treatment along with monitoring therapeutic response and identifying recurrences. Full article