[Pulmonary and testicular sarcoidosis revealed by optic disc edema]. / Cas clinique. Sarcoïdose pulmonaire et testiculaire révélée par un oedème de la tête du nerf optique.

Sarcoidosis is a chronic inflammatory granulomatous disease of unknown aetiology. Although the lungs and thoracic lymph nodes are the most frequently affected structures, every tissue can be affected. Ophthalmological involvement occurs in 25 % of cases. We report a clinical case in which the diagnosis of sarcoidosis was revealed by isolated unilateral optic disc edema.

La sarcoïdose est une pathologie inflammatoire granulomateuse chronique dont l'étiologie reste inconnue. Bien que les poumons et les ganglions thoraciques soient les structures les plus fréquemment atteintes, tous les tissus peuvent être affectés. L'atteinte ophtalmologique est présente dans 25 % des cas. Nous rapportons un cas clinique dont le diagnostic de sarcoïdose fut révélé par un œdème papillaire unilatéral isolé.

True or pseudo optic disc edema: clinically-based approach to the differential diagnosis.

PURPOSE: To present a clinically based approach to the differentiation of optic disc edema (DE) cases, commonly seen in neuro-ophthalmology. METHODS: Consecutive patients who were considered to have unilateral or bilateral DE during examinations in the outpatient clinic and were referred to the neuro-ophthalmology department were included in this prospective study. The examination findings and differential diagnosis based on clinical signs and symptoms, and neuro-ophthalmological approach were evaluated in cases of DE. RESULTS: Of the 119 cases with DE, 69 (58%) were women and 50 (42%) were men, where 89 (75%) had true optic DE (ODE) and 30 (25%) had pseudo optic DE  (PODE). Non-arteritic anterior ischemic optic neuropathy (n = 40), increased intracranial pressure (n = 32), and anterior optic neuritis (n = 17) were determined as the causes of true ODE, whereas small and crowded optic disc (n = 12), tilted optic disc (n = 8), myelinated nerve fibers (n = 5) and optic disc drusen (n = 5) as the causes of PODE. Patients with optic neuritis were the youngest (28.41 years) group of ODE cases while those with non-arteritic anterior ischemic optic neuropathy were the oldest (59.98 years). The first symptoms were sudden and painless loss of vision and/or visual field in cases with non-arteritic anterior ischemic optic neuropathy, pain increasing with eye movements and loss of vision and/or visual field in cases with optic neuritis, headache, and from time to time blurred vision in cases with increased intracranial pressure. Patients having vision loss due to amblyopia constituted (30%) of PODE cases while 70% were determined incidentally and they had the best visual acuity. The accuracy of the preliminary diagnosis based on neuro-ophthalmologic examination findings was 79% in all cases. CONCLUSION: Detailed history taking and neuro-ophthalmological examination are essential in the differential diagnosis of ODE and PODE.

Inappropriate Use of the Term "Papilledema" in the Medical Literature: A Systematic Review of Case Reports across Specialties.

TOPIC: The term "papilledema" is often misused in different ways when describing nonintracranial pressure-related optic disc edema (ODE) or on fundoscopic examination. However, the extent of these errors is unknown among case reports. CLINICAL RELEVANCE: "Papilledema" refers to ODE secondary to raised intracranial pressure (ICP). Papilledema is a leading reason for referral to neuro-ophthalmologists. In any specialty setting, papilledema must be distinguished from other causes of ODE because it implies a unique pathophysiology and management strategy. If managed inappropriately, papilledema may cause permanent vision loss. METHODS: Cross-sectional evidence-based study with protocol registered on Open Science Framework (digital object identifier: 10.17605/OSF.IO/BUQS3). From Ovid MEDLINE and EMBASE, we included case reports with "papilledema" in their title, abstract, or article keywords between January 2011 and March 2022. Studies were graded for the following errors: type 1 (using "papilledema" without evidence of elevated ICP), type 2 (declaring "papilledema" on examination before finding evidence of elevated ICP), type 3 (both errors type 1 and 2), or no error. RESULTS: Among 722 case reports, there was a total of 482 errors (66.8%). There were 12 type 1 errors, 360 type 2 errors, 110 type 3 errors, and 240 studies with no errors. Ophthalmology, neurology, and neurosurgery were the most represented fields, yet only ophthalmology had a low prevalence of errors among all specialties. Regardless, all specialties with at least 10 included reports had a high error prevalence (>30%). Reduced error prevalence was significantly associated with higher impact factor journals, non-open-access publication models, and origin countries with an English official language. Error prevalence was not significantly associated with publication year. Also, the relationship between article citation counts and the prevalence of any type of error did not reach significance. Risk of bias analysis indicated that error occurrence was unrelated to the quality of case report study design. CONCLUSION: "Papilledema" is widely misused even among ophthalmology case reports. When allowed to propagate, this error can mislead care delivery to patients with ODE. Our results, although limited to case reports, indicate a need for more thorough peer-review standards and neuro-ophthalmology exposure in medical education.

Ophthalmic changes in a spaceflight analog are associated with brain functional reorganization.

Following long-duration spaceflight, some astronauts exhibit ophthalmic structural changes referred to as Spaceflight Associated Neuro-ocular Syndrome (SANS). Optic disc edema is a common sign of SANS. The origin and effects of SANS are not understood as signs of SANS have not manifested in previous spaceflight analog studies. In the current spaceflight analog study, 11 subjects underwent 30 days of strict head down-tilt bed rest in elevated ambient carbon dioxide (HDBR+CO2 ). Using functional magnetic resonance imaging (fMRI), we acquired resting-state fMRI data at 6 time points: before (2), during (2), and after (2) the HDBR+CO2 intervention. Five participants developed optic disc edema during the intervention (SANS subgroup) and 6 did not (NoSANS group). This occurrence allowed us to explore whether development of signs of SANS during the spaceflight analog impacted resting-state functional connectivity during HDBR+CO2 . In light of previous work identifying genetic and biochemical predictors of SANS, we further assessed whether the SANS and NoSANS subgroups exhibited differential patterns of resting-state functional connectivity prior to the HDBR+CO2 intervention. We found that the SANS and NoSANS subgroups exhibited distinct patterns of resting-state functional connectivity changes during HDBR+CO2 within visual and vestibular-related brain networks. The SANS and NoSANS subgroups also exhibited different resting-state functional connectivity prior to HDBR+CO2 within a visual cortical network and within a large-scale network of brain areas involved in multisensory integration. We further present associations between functional connectivity within the identified networks and previously identified genetic and biochemical predictors of SANS. Subgroup differences in resting-state functional connectivity changes may reflect differential patterns of visual and vestibular reweighting as optic disc edema develops during the spaceflight analog. This finding suggests that SANS impacts not only neuro-ocular structures, but also functional brain organization. Future prospective investigations incorporating sensory assessments are required to determine the functional significance of the observed connectivity differences.

Multimodal Imaging in Idiopathic Neuroretinitis with Localized Choroidal Insufficiency: A Case Report.

Neuroretinitis is a rare clinical entity, characterized by optic nerve edema and star-shape hard exudate around fovea. The clinical features include acute unilateral visual loss, dyschromatopsia, relative afferent pupillary defect and visual field abnormalities. Increased vascular permeability of the optic disc is the main pathophysiology. As it is a not fully known clinical entity, diagnosis is challenging. In this case, we use multimodal imaging to reveal pathophysiology and anatomical change of early mild neuroretinitis. Case presentation: A 28-year-old healthy woman presented to the clinic with mild blurred vision in her left eye. After complete ophthalmic examination, outer retinal thickening of the temporal peripapillary area and optic disc edema were observed. Two days after diagnosis, the retinal edema and visual symptoms were aggravated. A hard exudate, maybe a part of macular star, was observed. Multimodal imaging including optical coherence tomography (OCT), swept-source OCT angiography (SS-OCTA), fluorescein angiography, and indocyanine green angiography visualized choroidal thinning and insufficient circulation beneath the outer retinal edema. Following steroid pulse therapy, the retinal edema and blurred vision were completely resolved. Conclusions: Multimodal imaging suggested that unilateral optic disc edema and early macular star help the diagnosis of neuroretinitis. In SS-OCTA, we found focal choroidal insufficiency. The focal insufficient choroidal circulation might be a contribution factor for idiopathic neuroretinitis. Multimodal imaging including SS-OCTA may be a valuable tool for detecting and monitoring disease progression.

Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema.

Mucopolysaccharidosis type I (MPS I or Hurler syndrome) is a multisystem genetic disorder caused by α-L-iduronidase (IDUA) deficiency, which leads to widespread accumulation of glycosaminoglycans triggering tissue damage and organ dysfunction. A variety of ocular manifestations have been described in Hurler Syndrome. We present the case of an 11-year-old boy with Hurler Syndrome and optic disc edema related to ocular glycosaminoglycan deposition. This report advances the idea that the optic nerve swelling seen in MPS I is likely influenced as much by biomechanical changes at the optic nerve head as by increased intracranial pressure.

Unilateral malignant optic glioma following glioblastoma multiforme in the young: a case report and literature review.

BACKGROUND: Malignant optic gliomas are rare, but they rapidly become lethal visual pathway tumors. We present the clinical course, treatment, and prognosis of a case of unilateral malignant optic glioma in a young man with a history of brain glioblastoma multiforme (GBM). CASE PRESENTATION: A 21-year-old man, who had GBM 7 years ago complained of a transient shadow in his vision and presented with normal visual acuity but optic disc edema and an enlarged blind spot in the right eye (oculus dexter, OD). Magnetic resonance imaging (MRI) showed a right intraorbital optic nerve tumor without a brain lesion. Chiasm involvement and severe vision deterioration occurred 3 months later. A biopsy of the right optic nerve revealed glioblastoma. Concurrent chemoradiotherapy (CCRT) prevented involvement of the fellow eye 1 year after symptom onset. CONCLUSION: This report demonstrated that a regular ocular exam should be recommended for several years after GBM. In young healthy patients who are able to undergo chemotherapy and radiotherapy, visual function in the fellow eye can be preserved.

Diagnosis of optic nerve sheath meningioma during optic nerve sheath decompression.

Optic nerve sheath meningioma (ONSM) is typically diagnosed based on clinical suspicion and imaging characteristics and is most often treated with radiation. Historically, biopsy, optic nerve sheath decompression, and debulking surgeries have been avoided for fear of optic nerve vascular disruption and tumor spread into the orbit. This is a case of a 48-year-old man who presented with unilateral optic disc edema, declining visual acuity, and a visual field defect. Despite an initial improvement with acetazolamide, his vision subsequently worsened. With an elevated lumbar puncture opening pressure and imaging showing right optic nerve sheath enhancement, the differential diagnosis included ONSM, perineuritis and idiopathic intracranial hypertension (IIH). Optic nerve sheath decompression (ONSD) with biopsy was performed, simultaneously decompressing the nerve and yielding a sample for pathologic analysis. A pathologic diagnosis of ONSM was made and treatment with radiation was subsequently initiated, but vision began to improve after the surgical decompression alone.

Influence of optic disc leakage on objective optic nerve head assessment in patients with uveitis.

PURPOSE: Secondary glaucoma is a common complication in patients with uveitis. Heidelberg Retina Tomography (HRT) and retinal nerve fiber layer (RNFL) thickness on optical coherence tomography (OCT) are widely used for examining optic nerve head changes. We evaluated these parameters in patients with uveitis and secondary glaucoma and with inflammatory papillary leakage on fluorescein angiography. METHODS: Prospective single-center analysis of patients with uveitis, evaluating the impact of optic disc leakage on objective optic disc imaging parameters. RESULTS: Overall, 96 eyes of 59 patients were included. Papillary leakage was found in 42 eyes (43.8 %), and secondary glaucoma was found in 41 eyes (42.7 %). Glaucoma and papillary leakage were present in 12 (29 %) eyes with leakage and in 29 (54 %) eyes without leakage (p = 0.023). Neuroretinal rim area (p = 0.004), rim volume on HRT (p = 0.004), and RNFL thickness on OCT (p = 0.0008) were significantly increased in eyes with papillary leakage, while RNFL on HRT was unchanged (p = 0.255). When only eyes with normal IOP were examined, all objective parameters on OCT and HRT were significantly increased, whereas in eyes with secondary glaucoma, there was only a trend in the same direction, which did not reach significance. A comparison of eyes with secondary glaucoma and optic disc leakage to normal eyes with no glaucoma or leakage revealed no difference in any of the parameters. CONCLUSIONS: The objective parameters of optic nerve head imaging tools are significantly influenced by papillary leakage. In patients with secondary glaucoma and papillary leakage, these techniques are unable to detect and monitor glaucomatous damage.

Intravitreal anti-vascular endothelial growth factor therapy in the treatment of vision loss associated with hematologic malignancy.

Purpose: To determine the effectiveness of anti-vascular endothelial growth factor (VEGF) therapy in the setting of optic disc edema secondary to hematologic malignancies. Observations: The report features two patients (one male, one female) in their 70's with biopsy proven hematologic malignancies who subsequently developed optic disc edema. The patients were commenced on a trial of successive intravitreal Aflibercept 2mg/0.05mL therapy. The best corrected visual acuity for patient 1 improved from 20/50 oculus dexter (OD) and 20/80 oculus sinister (OS), to 20/20 OD (4 lines Early Treatment of Diabetic Retinopathy Study (ETDRS)) and 20/32 OS (4 lines ETDRS). Similarly, patient 2's best corrected visual acuity improved from 20/100 OU to 20/50 OD (3 lines ETDRS) and 20/40 OS (4 lines ETDRS) following initiation of treatment. In addition, optical coherence tomography imaging obtained before and after therapy demonstrated an improvement in both patient's optic disc edema and cystoid macular edema. Conclusions and importance: The findings of this report suggest that in patients with a known hematologic malignancy, optic disc edema and cystoid macular edema may be amenable to anti-VEGF treatment, especially if there are clinical and angiographic features of vascular endothelial growth factor overexpression.

Papillitis associated with IgLON5 autoimmunity: A novel clinical phenotype.

OBJECTIVES: To describe papillitis as a clinical phenotype of IgLON5 autoimmunity. METHODS: We retrospectively reviewed patients with IgLON5 autoimmunity who had optic neuropathy, optic neuritis, or optic disc edema. Sera from patients with recurrent papillitis were tested for IgLON5 antibodies. RESULTS: We found two elderly males presenting with papillitis in the presence of IgLON5 antibodies. CSF pleocytosis was present and partial vision improvement occurred in one patient despite immunotherapy. Sera from 18 patients with recurrent papillitis were negative for IgLON5 antibodies. CONCLUSION: Papillitis could be a manifestation of IgLON5 disease, with or without accompanying cognitive, sleep, and movement disorders.

[A case of autoimmune glial fibrillary acidic protein astrocytopathy with various symptoms such as optic disc edema and cerebellar ataxia].

A 59-year-old man had developed visual abnormality, nausea, headache, and weight loss since three months before. The ophthalmologist found severe optic disc edema in both eyes, and referred him to our hospital. The patient had mild cerebellar ataxia. Increased cerebrospinal fluid pressure, increased protein and cell counts, positive oligoclonal band, and contrast-enhanced head MRI showed multiple linear perivascular radial gadolinium enhancement around bilateral lateral ventricles. His subjective and objective findings significantly improved with steroid treatment. The cerebrospinal fluid was found to be positive for glial fibrillary acidic protein (GFAP) antibodies, and a diagnosis of GFAP astrocytopathy was obtained. When optic edema or radial contrast effects was observed on contrast-enhanced MRI, GFAP astrocytopathy should be considerd. Prompt immunotherapy is required to circumvent the development of permanent visual impairment.

A rare case of simultaneous occurrence of non-arteritic anterior ischemic optic neuropathy and corpus callosum ischemia.

PURPOSE: To report a case of non-arteritic anterior ischemic optic neuropathy (NAION) in an elderly patient with ischemia of the left splenium of the corpus callosum, providing details of the diagnostic work-up and subsequent follow-up. METHODS SECTION: Case report. RESULTS: A pseudophakic 80 years-old woman referred complaining sudden visual impairment in the left eye (LE) in concomitance with episode of hypertensive crisis. Fundus examination showed diffuse swelling of optic disc associated with flame peripapillary hemorrhages in LE and small crowded disc in right eye (RE). A superior altitudinal defect with arcuate defect including the blind spot were detected at the visual field in the LE. The patient was diagnosed with NAION. Five days later the patient complained a further vision loss and a pathological area within the left splenium of corpus callosum, consistent ischemia, was depicted at magnetic resonance imaging of brain. Corpus callosum infarction was completely asymptomatic and neurological evaluation was normal. At 45 days follow-up fundus examination showed white ischemic nerve while visual field was irreversibly constricted with tubular defect in LE. CONCLUSION: In case of NAION linked with corpus callosum ischemia multimodal imaging and systemic work-up play a pivotal role for an early diagnosis.

Combined use of intravitreal bevacizumab and oral steroid treatment in three diabetic papillopathy patients: a diagnostic and treatment challenge.

Diabetic papillopathy (DP), a form of optic disc edema, is characterized by decreased visual acuity and mild to severe visual field defects. While there is no consensus about treatment, some publications report that intravitreal anti-vascular endothelial growth factor (anti-VEGF) injection may be beneficial. To our knowledge, however, no research reports on the effects of combining anti-VEGF injection and oral steroids in DP treatment. In this case report we present three DP cases that showed rapid improvement following therapy with intravitreal bevacizumab and oral steroids. Optic disc edemas were significantly decreased, and visual acuities were markedly increased in the first week of treatment. This report suggests that combined use of these therapies may be safely used in patients diagnosed with DP.

Unveiling the domino effect: a nine-year follow-up on pentalogy of central nervous system induced by a large unruptured cerebral arteriovenous malformation: a case report and literature review.

Background: The disruption of intracranial fluid dynamics due to large unruptured cerebral arteriovenous malformation (AVM) commonly triggers a domino effect within the central nervous system. This phenomenon is frequently overlooked in prior clinic and may lead to catastrophic misdiagnoses. Our team has documented the world's first case of so-called AVM Pentalogy (AVMP) induced by a AVM. Clinical presentation and result: A 30-year-old female was first seen 9 years ago with an occasional fainting, at which time a huge unruptured AVM was discovered. Subsequently, due to progressive symptoms, she sought consultations from several prestigious neurosurgical departments in China, where all consulting neurosurgeons opted for conservation treatment due to perceived surgical risks. During the follow-up period, the patient gradually presented with hydrocephalus, empty sella, secondary Chiari malformation, syringomyelia, and scoliosis (we called as AVMP). When treated in our department, she already displayed numerous symptoms, including severe intracranial hypertension. Our team deduced that the hydrocephalus was the primary driver of her AVMP symptoms, representing the most favorable risk profile for intervention. As expected, a ventriculoperitoneal shunt successfully mitigated all symptoms of AVMP at 21-months post-surgical review. Conclusion: During the monitoring of unruptured AVM, it is crucial to remain vigilant for the development or progression of AVMP. When any component of AVMP is identified, thorough etiological studies and analysis of cascade reactions are imperative to avert misdiagnosis. When direct AVM intervention is not viable, strategically addressing hydrocephalus as part of the AVMP may serve as the critical therapeutic focus.

Clinical characteristics of peripapillary hyperreflective ovoid mass-like structures in myopic children.

AIM: To describe the characteristics of peripapillary hyperreflective ovoid mass-like structure (PHOMS) in myopic children and to investigate factors associated with PHOMS. METHODS: This retrospective observational study included 101 eyes of 101 children (age ≤17y) with myopia. All included patients underwent comprehensive clinical examination. Optic nerve canal parameters, including disc diameter, optic nerve head (ONH) tilt angle, and border tissue angle were measured using serial enhanced-depth imaging spectral-domain optical coherence tomography (EDI-OCT). Based on the optic disc drusen consortium's definition of PHOMS, eyes were classified as PHOMS group and non-PHOMS group. PHOMS was categorized according to height. RESULTS: Sixty-seven (66.3%) eyes were found with PHOMS. Small PHOMS could only be detected by optical coherence tomography (OCT). Medium PHOMS could be seen with blurred optic disc borders corresponding to OCT. The most frequent location of PHOMS was at the nasosuperior (91%, 61 of 67 eyes) to ONH disc. The axial length and spherical equivalent were more myopic in the PHOMS group than in the non-PHOMS group (both P<0.001). ONH tilt angle was also significantly greater in PHOMS group than in non-PHOMS group [8.90 (7.16-10.54) vs 3.93 (3.09-5.25), P<0.001]. Border tissue angle was significantly smaller in PHOMS group than in non-PHOMS group [29.70 (20.90-43.81) vs 45.62 (35.18-60.45), P<0.001]. In the multivariable analysis, spherical equivalent (OR=3.246, 95%CI=1.209-8.718, P=0.019) and ONH tilt angle (OR=3.275, 95%CI=1.422-7.542, P=0.005) were significantly correlated with PHOMS. There was no disc diameter associated with PHOMS. In the linear regression analysis, border tissue angle was negatively associated with PHOMS height (ß=-2.227, P<0.001). CONCLUSION: PHOMS is associated with optic disc tilt and optic disc nasal shift in myopia. Disc diameter is not a risk factor for PHOMS. The changes in ONH caused by axial elongation facilitated an understanding of the mechanism of PHOMS.

Transient binocular vision loss and pain insensitivity in Klippel-Feil syndrome: a case report.

BACKGROUND: Klippel-Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel-Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system. CASE PRESENTATION: This case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss. The patient had Klippel-Feil syndrome, with the typical clinical triad symptoms of Klippel-Feil syndrome, along with Sprengel's deformity. She also exhibited generalized hypoalgesia, which had previously resulted in widespread burn-related injuries. Upon examination, bilateral optic disc swelling was observed, but intracranial pressure was found to be normal. Extensive investigations yielded normal results, except for hypocalcemia and low vitamin D levels, while parathyroid function remained within the normal range. Visual acuity improved following 2 months of calcium and vitamin D supplementation, suggesting that the visual loss and optic nerve swelling were attributed to hypocalcemia. Given the normal parathyroid function, it is possible that hypocalcemia resulted from low vitamin D levels, which can occur after severe burn scarring. Furthermore, the patient received a provisional diagnosis of congenital insensitivity to pain on the basis of the detailed medical history and the findings of severe and widespread loss of the ability to perceive painful stimuli, as well as impaired temperature sensation. However, due to limitations in genetic testing, confirmation of the congenital insensitivity to pain diagnosis could not be obtained. CONCLUSION: This case highlights a rare presentation of transient binocular vision loss and pain insensitivity in a patient with Klippel-Feil syndrome, emphasizing the importance of considering unusual associations in symptom interpretation.

Non-arteritic anterior ischemic optic neuropathy as the only manifestation of a malignant hypertensive crisis: Report of a case.

Non-arteritic anterior ischemic optic neuropathy (NAION) is after glaucoma the most common optic neuropathy in patients over 50 years. It is known that high blood pressure (HBP) is an important risk factor for the development of NAION. It is also known that malignant arterial hypertension (MAH) could be accompanied by optic disc edema. However, MAH has not classically been considered a cause of NAION. We report the case of a 32-year-old patient who presented irreversible visual loss with a pattern compatible with NAION as the only manifestation of a hypertensive crisis.