Idiopathic intracranial hypertension in two twin sisters.

Idiopathic intracranial hypertension (IIH) is a condition of unknown aetiology characterised by an increase in the intracranial pressure. Familial cases of IIH are rare and not well-understood. We present two monozygotic twins who developed IIH two years apart. The case involves two monozygotic female twins developing IIH in their 50s. They presented with a history of blurry vision and headaches. The diagnosis included the neurological, radiological and ophthalmological examination, excluding other causes. Both patients received treatment with acetazolamide, successfully resolving the papilloedema and restoring a normal visual field. This case highlights the occurrence of IIH among twins presenting at similar periods, emphasising the potential genetic influence. Clinicians should alert and educate the family regarding the risk factors and potential symptoms of this condition in the unlikely occurrence that other family members are affected.

Vision loss due to atypical bilateral edema of the optic nerve in a patient with hereditary angioedema: A case report.

PURPOSE: To describe a rare case of vision loss due to bilateral edema of the optic nerve in a patient with Hereditary Angioedema, treated with prophylactic C1-esterase inhibitor. METHODS: A 60-year-old Caucasian male affected by Hereditary Angioedema with unknown genetic defect (HAE- UNK) was admitted to our hospital presenting bilateral vision loss (best corrected visual acuity of 20/32 in the right eye and hand motion in the left eye) during an HAE attack. Intravenous administration of C1- esterase inhibitor (C1-INH, 1500 IU, Berinert, CSL Behring) determined the resolution of facial and periorbital swelling, however visual impairment persisted, in contrast with previous attacks experienced by the patient. Fundus examination revealed a vital optic disc without papilledema in both eyes. Magnetic resonance imaging (MRI) of the head and orbits showed bilateral edema of the optic nerve sheath. Treatment with intravenous and oral steroids was ineffective. Subsequently, a prophylactic treatment strategy with subcutaneous C1-esterase inhibitor was started (7000 IU every four days). RESULTS: Complete regression of edema of the optic nerves was observed by imaging at two months of follow-up after chronic treatment with C1-esterase inhibitor (7000 IU every four days). Complete restoration of visual acuity was achieved (BCVA 20/20 in both eyes) and multimodal imaging of the optic nerves demonstrated the absence of anatomical and functional damage. CONCLUSION: Patients affected by HAE may show atypical presentation with edema of the optic nerves without involvement of the optic nerve head. They may significantly benefit from prophylactic and chronic treatment with C1-esterase inhibitor.

Visualization of Optic Nerve Structural Patterns in Papilledema Using Deep Learning Variational Autoencoders.

Purpose: To visualize and quantify structural patterns of optic nerve edema encountered in papilledema during treatment. Methods: A novel bi-channel deep-learning variational autoencoder (biVAE) model was trained using 1498 optical coherence tomography (OCT) scans of 125 subjects over time from the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT) and 791 OCT scans of 96 control subjects from the University of Iowa. An independent test dataset of 70 eyes from 70 papilledema subjects was used to evaluate the ability of the biVAE model to quantify and reconstruct the papilledema spatial patterns from input OCT scans using only two variables. Results: The montage color maps of the retinal nerve fiber layer (RNFL) and total retinal thickness (TRT) produced by the biVAE model provided an organized visualization of the variety of morphological patterns of optic disc edema (including differing patterns at similar thickness levels). Treatment effects of acetazolamide versus placebo in the IIHTT were also demonstrated in the latent space. In image reconstruction, the mean signed peripapillary retinal nerve fiber layer thickness (pRNFLT) difference ± SD was -0.12 ± 17.34 µm, the absolute pRNFLT difference was 13.68 ± 10.65 µm, and the RNFL structural similarity index reached 0.91 ± 0.05. Conclusions: A wide array of structural patterns of papilledema, integrating the magnitude of disc edema with underlying disc and retinal morphology, can be quantified by just two latent variables. Translational Relevance: A biVAE model encodes structural patterns, as well as the correlation between channels, and may be applied to visualize individuals or populations with papilledema throughout treatment.

Systemic lupus erythematosus with chronic persistent intracranial hypertension: A case report.

OBJECTIVE: The aim is to investigate the clinical characteristics of systemic lupus erythematosus with intracranial hypertension. METHODS: The clinical characteristics of one case of systemic lupus erythematosus with chronic persistent intracranial hypertension were analyzed, and related literature was reviewed by searching Medline and Wanfang databases. RESULTS: Intracranial hypertension in SLE patients may occur at the onset or during the course of the disease. Our patient was diagnosed with IH 3 years after the onset of SLE. Headache and papilledema were the most common symptoms of intracranial hypertension, followed by nausea or vomiting, vision changes, and cerebral palsy. Our patient had a headache and cranial hypertension that lasted for years, but no papilledema was found. Corticosteroid is currently the mainstay of the treatment of IIH in patients with SLE, and immunosuppressive agents, acetazolamide, intravenous mannitol and furosemide are also used. However, our patient did not respond to these treatments and presents the characteristics of chronic persistent intracranial hypertension. CONCLUSION: Systemic lupus erythematosus with intracranial hypertension is a rare manifestation of SLE, which is not completely parallel to SLE activity. Headache and papilledema were the most common presenting symptoms. Different from previous reported cases, our patient had poor response to treatments, showing chronic and persistent characteristics.

The Vienna idiopathic intracranial hypertension database-An Austrian registry.

BACKGROUND: Idiopathic intracranial hypertension (IIH) is becoming increasingly more prevalent bearing the risk of visual impairment and affecting the quality of life. Clinical presentation and outcome are heterogeneous. Large, well-characterized cohorts are scarce. OBJECTIVE: To characterize the clinical spectrum, diagnostic findings, therapeutic management, and outcome of IIH. METHODS: We identified patients with IIH according to modified Friedman criteria treated at our center between 2014 and 2021. The Vienna IIH database is described in detail. RESULTS: Of 113 patients 89% were female (mean age 32.3 years). Median body mass index (BMI) was 31.8, with 85% overweight (BMI > 25) and 5% were classified as IIH without papilledema. Headache was present in 84% and showed migraine features in 43%. Median opening pressure in lumbar puncture was 31 cmH2O. Pharmacotherapy (predominantly acetazolamide) was established in 99%, 56% required at least 1 therapeutic lumbar puncture and 13% a surgical intervention. After a median 3.7 years follow-up, 57% had achieved significant weight loss, papilledema was present in 59% and headache in 76% (58% improved). Comparing initial presentation to follow-up, perimetry was abnormal in 67% vs. 50% (8% worsened, 24% improved) and transorbital sonography in 87% vs. 65% with a median optic nerve sheath diameter of 5.4 mm vs. 4.9 mm. Median peripapillary retinal nerve fiber layer thickness decreased from 199 µm to 99 µm and ganglion cell layer volume from 1.13 mm3 to 1.05 mm3. CONCLUSION: The large representative Vienna IIH cohort characterizes IIH-related symptoms, diagnostic findings, treatment, and outcome emphasizing substantial long-term sequelae of IIH. Future analyses will aim to refine phenotyping and identify factors predicting outcome.

Macular Star, Optic Disc Swelling, and Lethargy in a Child.

A 13-year-old girl with a 7-day history of painless vision loss and central scotoma in her left eye was referred to the hospital. Dilated fundus examination revealed a bilateral sectorial macular star that was more extended in the left eye and some faint, small, tan-yellow dots were observed at the level of the retinal pigment epithelium in the posterior pole. What would you do next?

Central Retinal Vein Occlusion after COVID-19 Infection.

INTRODUCTION: Central retinal vein occlusions are not well-known complications of SARS-CoV-2 infection. We describe a case of central retinal vein occlusion secondary to COVID-19, and a review of the literature was performed. HISTORY AND SIGNS: A 47-year-old woman with no underlying ocular or medical condition presented to the hospital complaining about sudden onset of multiple scotomas in her left eye. A COVID-19 infection was confirmed 2 days previously by a PCR test that was performed 2 days after the onset of symptoms. Medical history revealed no risk factors and no oral contraception. Her best-corrected visual acuity was 1.0 in the right eye and 0.04 in the left eye. Clinical exam showed a left relative afferent pupillary defect and a nasally localized papilledema on fundoscopy of the left eye. Multiple dot and blot hemorrhages were also present. Optical coherence tomography revealed cystoid macular edema and paracentral acute middle maculopathy. The results of the fluoresceine angiography were consistent with central retinal vein occlusion. Laboratory workup later revealed an elevated fibrinogen level, corresponding to the COVID-19-induced hypercoagulable state. No other prothrombotic conditions were found. The patient immediately received an intravitreal injection of Lucentis (ranibizumab) after diagnosis. Complete resolution of the retinal hemorrhages and papilledema was observed 1.5 months after treatment and the final visual acuity was 1.25 in the left eye. CONCLUSION: Coagulation abnormalities are frequently observed in infectious diseases such as COVID-19 infection and the resulting prothrombotic state can sometimes lead to retinal vascular complications, including central retinal vein occlusion, irrespective of the presence of other classical risk factors. The consideration of this information could help clinicians establish a prompt diagnosis and therefore appropriate treatment, which could hopefully lead to complete healing of retinal lesions.

Neuro-ophthalmic Complications in Pediatric Leukemia.

BACKGROUND: Optic neuropathy in childhood leukemia occurs through multiple direct and indirect mechanisms, including leukemic infiltration of the optic nerve, infection, blood dyscrasias, or adverse effects of treatment. We aimed to characterize visual outcomes in pediatric patients with leukemia-associated neuro-ophthalmic manifestations. METHODS: We retrospectively identified patients with leukemia and optic nerve pathology over 13 years by diagnostic billing codes. We collected information on demographics, presentation, treatment course, and visual outcomes directly from medical records. RESULTS: Of the 19 patients who met inclusion criteria, 17 (89.5%) had pseudotumor cerebri and 2 had direct optic nerve infiltration. Causes of increased intracranial pressure included central nervous system infiltration (6 of 17), hyperviscosity/leukemia (2 of 17), venous sinus thrombosis (3 of 17), medication induced (5 of 17), and bacterial meningitis (1 of 17). 47.1% (8 of 17) had papilledema at the time of leukemia diagnosis, and 94.1% (16 of 17) of patients with pseudotumor cerebri were treated with acetazolamide. At presentation, 3 patients had decreased vision secondary to macular ischemia, subhyaloid vitreous hemorrhage, or steroid induced glaucoma. Following treatment of pseudotumor cerebri, binocular visual acuity was ≥20/25 in all patients. One patient with optic nerve infiltration had a final visual acuity of count fingers in the affected eye. CONCLUSIONS: In our chart review, the most common mechanism of neuro-ophthalmic involvement in pediatric leukemia was elevated intracranial pressure from a myriad of causes. Visual outcomes from patients with elevated intracranial pressure were excellent. Understanding the mechanisms by which leukemia can cause optic nerve disease in pediatric patients can facilitate earlier diagnosis and treatment and potentially improve visual outcomes.

Case Report: Papilledema Secondary to Cerebral Venous Sinus Thrombosis after Severe COVID-19 Infection.

SIGNIFICANCE: This case highlights ocular adverse effects of a rare, potentially life-threatening complication from coronavirus disease 2019 (COVID-19). Papilledema can occur because of increased intracranial pressure caused by cerebral venous sinus thrombosis, the incidence of which may be more likely in patients with a history of COVID-19 because of an induced hypercoagulable state. PURPOSE: This case report presents a case of papilledema secondary to cerebral venous sinus thrombosis in a patient with a recent history of severe coronavirus disease (COVID-19). CASE REPORT: A 29-year-old man hospitalized with a complicated course of coronavirus disease (COVID-19) was referred to the ophthalmology department for episodic blurry vision of both eyes and intermittent binocular diplopia. Clinical examination revealed diffuse bilateral optic disc edema. Magnetic resonance venography of the brain during his admission revealed subtotal occlusion of the right transverse sinus by thrombosis. At the time of diagnosis, the patient was already taking systemic anticoagulation therapy for treatment of a recent pulmonary embolism also thought to be induced by COVID-19. After additional treatment with acetazolamide, there was improvement in his optic nerve edema. CONCLUSIONS: Cerebral venous sinus thrombosis, a serious and potentially life-threatening condition, can occur as a rare complication of COVID-19. In such cases, patients may develop increased intracranial pressure, papilledema, and subsequent vision loss. Magnetic resonance venography should be ordered in patients with suspected papilledema to help rule out the presence of cerebral venous sinus thrombosis.

Bilateral optic disc edema as a possible complication of cabozantinib use-a case report.

INTRODUCTION: Cabozantinib, which was approved by the Food and Drug Administration (FDA) in 2012, is a tyrosine kinase inhibitor widely used in the treatment of metastatic renal cell carcinoma (RCC) and medullary thyroid carcinoma. To date, no ocular adverse events have been reported by the FDA or on the package label. Here, we described a patient with metastatic RCC who developed bilateral optic disc edema after a 4-month course of cabozantinib. CASE DESCRIPTION: A 55-year-old ethnic Chinese male with RCC with multiple metastases presented to our department with progressive blurred vision in both eyes for 1 month. He started taking cabozantinib 60 mg once daily 5 months prior to this presentation. Poor visual acuity and bilateral disc edema were then noted. Cabozantinib was discontinued after that, and 3-day pulse steroid therapy with methylprednisolone 1 g/day was given. The optic disc edema subsided gradually with limited improvement in visual acuity. CONCLUSION: Bilateral optic edema should be considered as a complication associated with cabozantinib. We propose discontinuation of the treatment in cases such as that, and pulse steroid therapy should be considered if there is no contraindication.

Atypical Case of MOG Antibody-Associated Optic Neuritis with Roth Spots.

PURPOSE: To report an atypical case of MOG antibody-associated optic neuritis with Roth spots and widespread retinal hemorrhages. CASE REPORT: A 49-year-old woman complained of 1 week history painful visual loss in the left eye. Funduscopy exam showed a severe optic disc edema associated with multiple peripapillar hemorrhages, peripheral retinal hemorrhages and Roth spots in the left eye. Orbit MRI revealed an hyperintensity in the left optic nerve, enhanced with gadolinium. The serum Myelin Oligodendrocyte (MOG) antibodies was found positive. Early intravenous high dose of steroids rapidly improved visual acuity and fundus abnormalities rapidly resolved. CONCLUSION: Retinal hemorrhages can also be detected in case of optic disc edema associated with an optic neuritis, as seen in MOGAD.

A high-pressure situation.

An 8-year-old boy presented with acute visual loss in the right eye and nausea, vomiting, and diplopia. Imaging revealed a right orbital apex mass. Biopsy showed Langerhans cell histiocytosis (LCH), and the patient was diagnosed with isolated orbital LCH causing an orbital apex syndrome. A 12-month cytarabine chemotherapy course was begun, during which the patient developed bilateral optic disc edema. He was diagnosed with cytarabine-induced intracranial hypertension, which was successfully treated with acetazolamide. The cytarabine course was completed with complete resolution of the LCH lesion. The ophthalmologic relevance of this rare disorder is discussed.

Bilateral Optic Disc Edema as an Initial Presentation of Acute Retinal Necrosis.

PURPOSE: We reported a case of acute retinal necrosis (ARN) that presented as isolated bilateral optic disc edema. METHODS: A case report. CASE: A 68-year-old male with a 3-day history of progressive blurred vision presented with isolated bilateral optic disc edema. Through history taking, we found that he was diagnosed with herpes zoster affecting the lumbar and sacral dermatomes in the past month. Five days later, the patient experienced acute deterioration in visual acuity, with the left eye deteriorating to perception of light only. Bilateral retinal necrosis was noticed. We tested the aqueous samples with polymerase chain reaction and identified positive varicella-zoster virus (VZV) results. A diagnosis of bilateral acute retinal necrosis caused by VZV infection was established and we administered intravitreal and intravenous antiviral medications, steroids, and performed prophylactic scleral buckling. SUMMARY: This report demonstrates a rare ARN case initially presented with isolated bilateral optic disc edema.

Timolol maleate, a ß blocker eye drop, improved edema in a retinal vein occlusion model.

Purpose: To investigate the therapeutic effects of eye drops, namely, timolol maleate, a ß-adrenergic receptor antagonist, and latanoprost, a prostaglandin F2α analog, on retinal edema in a murine retinal vein occlusion (RVO) model. Methods: An RVO model was established using laser-induced RVO in mice, which were administered timolol maleate and latanoprost eye drops several times after venous occlusion. Subsequently, the thickness of the inner nuclear layer (INL) and the expression levels of such genes as Vegf and Atf4, which are stress markers of the endoplasmic reticulum, were examined. Primary human cultured retinal microvascular endothelial cells (HRMECs) were treated with timolol under hypoxic conditions, after which the gene expression pattern was investigated. Importantly, an integrated stress response inhibitor (ISRIB) was used in the RVO model, he known ISRIB, which suppresses the expression of ATF4 in retinal edema. Results: Increased INL thickness was suppressed by timolol eye drops, as were the expressions of Vegf and Atf4, in the RVO model. However, latanoprost eye drops did not induce any change in INL thickness. In HRMECs, hypoxic stress and serum deprivation increased the Vegf and Atf4 expressions; in response, treatment with timolol suppressed the Vegf expression. Furthermore, the ISRIB decreased the Vegf expression pattern and edema formation, which are associated with RVO. Conclusions: These results indicate that timolol eye drops may be a potential option for RVO treatment.

Silent progressive bilateral papillitis after COVID-19 vaccination: A case report.

RATIONALE: We report the case of a patient who developed asymptomatic bilateral papillitis after coronavirus disease 2019 (COVID-19) vaccination. PATIENT CONCERNS: A 61-year-old man presented to our tertiary clinic with bilateral optic disc edema, which was incidentally detected during his visit to a primary ophthalmology clinic. He had received an adenovirus-vectored COVID-19 vaccine 2 weeks before the optic disc edema was detected and had experienced no ocular discomfort, except for a floater in his right eye. Although his visual acuity was normal and he had no color vision deficiencies or marked visual field defects, the optic disc edema worsened over several days. Orbital magnetic resonance imaging showed no optic tract enhancement, and lumbar puncture revealed normal cerebrospinal fluid pressure. The patient tested negative for aquaporin-4 and myelin oligodendrocyte glycoprotein antibodies and Leber hereditary optic neuropathy-associated gene mutations. DIAGNOSIS: The patient was diagnosed with bilateral papillitis, possibly induced by the COVID-19 vaccination. INTERVENTIONS: The patient received steroid pulse therapy with methylprednisolone (500 mg/day) for 3 days followed by an oral prednisolone taper for 3 weeks. OUTCOMES: The patient's papillitis started to subside 3 weeks after he received systemic steroid therapy and completely resolved without any sequelae 2 months later. A year after the diagnosis, the fundus remained stable without disease recurrence or optic disc atrophy. LESSONS: Healthy individuals receiving COVID-19 vaccines may present with various manifestations of optic neuritis. In the present case, the patient presented with asymptomatic progressive bilateral optic disc edema and had a favorable long-term course after receiving steroid therapy.

Papillitis and uveitis complicating Bacillus Calmette-Guérin immunotherapy.

Intravesical Bacillus Calmette-Guérin (BCG) administration was used to treat bladder carcinoma in a woman in her 60s. Severe bilateral non-granulomatous anterior uveitis and gross papillitis developed subsequently. The severe BCG-induced bilateral uveitis and papillitis were treated with high dose oral corticosteroids, with topical steroids and cycloplegics. Resolution of her ocular symptoms and signs eventuated. On lumbar puncture, no evidence of systemic spread of the BCG was found. Visual acuity returned to 6/9 in each eye with subsequent resolution of papillitis. Repeat cystoscopy demonstrated no evidence of recurrent bladder tumour.Hypersensitivity reactions are well recognised with Tubercle bacilli While both hypersensitivity reactions and dissemination of BCG throughout the body have been previously documented, the literature demonstrates that this case is the first example in which papillitis and bilateral uveitis were the prominent ophthalmological features.

Various clinical presentations of uveitis associated with durvalumab treatment.

BACKGROUND: Immune checkpoint inhibitors (ICI) are becoming increasingly common in treating several cancer types. Durvalumab is a human IgG1 monoclonal antibody that blocks PD-L1 binding to PD-1 and CD80 and has recently been approved for the treatment of extensive-stage small-cell lung cancer (ES-SCLC) and locally advanced unresectable (NSCLC). The present review aimed to analyse immune-mediated uveitis, secondary to durvalumab treatment, through a review of the literature and a presentation of two clinical cases. PATIENTS AND METHODS: A literature review using PubMed search was conducted to identify cases of uveitis secondary to durvalumab and cases of uveitis with optic disc oedema secondary to ICI use that were reported prior to November 14, 2021. Additionally, we report two cases of uveitis consequent on durvalumab treatment. RESULTS: Five cases of uveitis secondary to durvalumab use were identified in the literature. Anterior, posterior uveitis and vasculitis were reported. Additionally, we present a case of bilateral intermediate uveitis with bilateral optic disc oedema and a case of bilateral posterior uveitis. Our further search revealed 12 cases of uveitis with optic disc oedema secondary to ICI use, with the majority of cases reported secondary to PD-1 inhibitors. CONCLUSIONS: Rarely reported, uveitis secondary to durvalumab can present various clinical pictures and requires a thorough diagnostic workup. Once the diagnosis is established, treatment, commonly with a local or systemic corticosteroid, should be adapted to the severity of the inflammation.

Recurrent Intracranial Hypertension in a Toddler with Graves' Disease.

INTRODUCTION: Idiopathic intracranial hypertension (IIH) is characterized by increased intracranial pressure without an evident cause. Obesity and the female sex have been recognized as risk factors for the development of this syndrome. Until now, Graves' disease has only been described in the literature as the probable cause of IIH in 7 patients. This report describes the case of a young girl with Graves' disease presenting with symptoms of intracranial hypertension (IH). CASE PRESENTATION: A 21-month-old girl presented with progressive symptoms of poor weight gain and bilateral exophthalmos. She also experienced difficulty sleeping, diarrhea multiple times per day, irritability, and heat intolerance. Laboratory investigation showed elevated free T4, fully suppressed TSH, and elevated anti-TSH antibodies, consistent with a diagnosis of new-onset Graves' disease. She was successfully treated with monotherapy thiamazole, titrated to the lowest possible dose of 1.25 mg once daily with normalization of thyroid function tests within 3 months of treatment initiation. After 18 months of treatment, her condition unexpectedly deteriorated as papilledema and slight esotropia were found at a routine checkup. An MRI and lumbar puncture showed increased intracranial pressure, but no underlying anatomical cause for the IH was found. Acetazolamide therapy was started, and papilledema in both eyes resolved within weeks. Unfortunately, papilledema has recurred several times over the following 2 years when attempts were made to decrease the acetazolamide dose. DISCUSSION/CONCLUSION: This case report is the first to describe a very young patient who developed significant IIH in the chronic stage of Graves' disease. IIH development seemed to be related to the progression of the Graves' ophthalmopathy, rather than initiation of thiamazole therapy or fluctuations in serum fT4 levels.

Papilledema and idiopathic intracranial hypertension due to the possible potentiation of ATRA by posaconazole in a case of acute promyelocytic leukemia.

INTRODUCTION: Idiopathic intracranial hypertension (IIH) (pseudotumor cerebri) is a rare side effect of all-trans retinoic acid (ATRA). IIH cases have been observed after the concomitant use of ATRA with azole group antimicrobials such as fluconazole and voriconazole. Here, we discuss about the diagnosis and treatment process of the IIH emerging in a young acute promyelocytic leukemia (APL) case with the ATRA impact, which can be increased by posaconazole. CASE: A 19-year-old male patient was diagnosed with APL. Headache and blurred vision were developed on the 12th day of the AIDA (ATRA, 45 mg/m2/day, oral and idarubicin 12 mg/m2, on days 2, 4, 6, 8, intravenous) protocol and posaconazole proflaxis. He was diagnosed IIH along with the existing eye findings and imagings. MANAGEMENT & OUTCOME: ATRA treatment and posaconazole were interrupted. Systemic acetazolamide and dexamethasone treatment were initiated. After significant clinical response was observed, ATRA treatment was resumed without posaconazole and a similar clinical condition did not recur. DISCUSSION: The combined use of ATRA and azole group drugs increases the risk of developing IIH. Patients with APL who developed IIH during the concomitant use of ATRA and fluconazole or voriconazole have been reported. To the best of our knowledge, our case is the first APL case with a IIH who treated with ATRA-based therapy and used posaconazole. In case of development of side effects, drugs should be interrupted and this combination should be avoided if possible after appropriate approach and clinical improvement.