Bilateral Optic Disc Research Articles

Spontaneous and Surgical Resolution of Maculopathy in Bilateral Optic Disc Pit After Posterior Vitreous Detachment: A Case Report.

To report a case of bilateral optic disc pit (ODP) maculopathy using a different treatment approach. Observational case report. A 17-year-old male presented with blurred vision in both eyes. His visual acuity was 20/400 in the right eye and 20/200 in the left eye. Fundus examination revealed bilateral temporal ODP and maculopathy. Optical coherence tomography scans showed severe intraretinal schisis-like changes, subretinal fluid, and parafoveal vitreomacular traction due to posterior hyaloid thickening in both eyes. Pars plana vitrectomy, in combination with internal limiting membrane peeling and gas tamponade, was performed on his left eye. A conservative approach was preferred due to high myopia and milder maculopathy in the right eye. Regressed maculopathy was found after spontaneous posterior vitreous detachment in the right eye. Our case report may contribute to the knowledge regarding the role of vitreomacular abnormalities in the pathogenesis of ODP maculopathy.

7219 Ocular Findings in Jansen Metaphyseal Chondrodysplasia

Abstract Disclosure: F. Obiezu: None. K. Pan: None. A. Ninan: None. K.L. Roszko: None. L.S. Weinstein: None. C.R. Ferreira: None. R.I. Gafni: None. T. Magone De Quadros Costa: None. M.T. Collins: None. S. Jha: None. Jansen Metaphyseal Chondrodysplasia (JMC) is an ultra-rare disorder, with only 30 patients estimated to have the disease globally. It is caused by heterozygous pathogenic variants in PTHR1 that result in constitutive activation of parathyroid hormone type 1 receptor (PTHR1) signaling. A detailed description of craniofacial manifestations of the disease is lacking. Here we characterize the ophthalmological manifestations in patients with JMC. Six patients (4 males, 67%) with genetically confirmed JMC underwent a detailed ophthalmological evaluation, spectral-domain optical coherence tomography (OCT), craniofacial CT and 18F-NaF PET/CT scans. Median age at the time of the visit was 27.5 [IQR: 29] years. On physical examination, all patients were noted to have widely spaced eyes; 5 of the 6 had down slanted palpebral fissures, proptosis, or ptosis. Two patients had incomplete or defective closure of the eyelids (lagophthalmos), of which one had a history of progressive right facial nerve palsy with profuse epiphora. The second patient had central visual field defects, bilateral moderate optic disc pallor and bilateral retinal nerve fiber layer (RNFL) atrophy on OCT exam with bilateral optic canal narrowing on CT. Notably, comparison of these findings with a prior scan performed 5 years earlier showed progressive decrease in RNFL bilaterally. This patient had a history of prolonged intravenous bisphosphonate therapy, initiated in infancy for hypercalcemia and continued for over a decade. A third patient had normal vision, subtle temporal pallor of the optic nerve heads on dilated fundus exam, normal average RNFL, but decreased retinal ganglion cell layer analysis (GCA) on OCT. GCA was decreased in 4 of the 6 patients compared to age-matched reference range indicating a chronic optic nerve atrophic process. These data represent the first comprehensive report of the ophthalmologic findings in a cohort of patients with JMC. They demonstrate that patients with JMC have significant eye findings that appear to be more prevalent and pronounced with age. This suggests age-related, progressive optic neuropathy, which can be assessed by demonstrating OCT retinal GCA and RNFL loss and, may be a feature of JMC. The benefit and effect of long-term bisphosphonate therapy in patients with JMC remains unclear. Patients with JMC should undergo regular ophthalmologic examination including optic nerve OCT, visual field testing, and craniofacial imaging. Presentation: 6/1/2024

Unraveling the Spectrum of Ocular Toxicity with Oxaliplatin: Clinical Feature Analysis of Cases and Pharmacovigilance Assessment of the US Food and Drug Administration Adverse Event Reporting System Database

Ocular adverse events (oAEs) are a class of adverse events associated with oxaliplatin that are realistically observed in real-world settings. Herein, we aim to describe the clinical characteristics of oAEs associated with oxaliplatin through a systematic review of case reports and to assess a potential safety signal. PubMed, Embase, and Cochrane Library databases were used to retrieve case reports. The global disproportionality study was performed leveraging the US Food and Drug Administration Adverse Event Reporting System database from January 2004 to September 2023. Bayesian information component (IC) and reporting odds ratio (ROR) were applied to identify and evaluate potential oAEs associated oxaliplatin. A total of 20 cases from the systematic case review (of 13 screened articles) were reported on oAEs associated with oxaliplatin, with ages between 26 and 76 years. Therein, 16 (84.2%) cases described loss of vision, and the remaining cases presented with bilateral blepharoptosis, papilledema, and optic disc swelling. Insights from the US Food and Drug Administration Adverse Event Reporting System database showed that oAEs accounted for 4.28% (n = 1194) of the overall oxaliplatin-related adverse event reports, of which 1140 (95.48%) had a serious outcome. The median (interquartile range) onset time of oAEs with oxaliplatin was day 1 (0-25; n = 649). Disproportionality analysis revealed that ocular injuries NEC (n = 28, ROR, 22.72; lower limit of the 95% 2-sided CI for IC, 3.12) was the most significant signals detected. Additionally, unexpected significant oAEs, including eyelid ptosis, eyelid edema, eye movement disorder, blepharospasm, periorbital edema, swelling of eyelid, ophthalmoplegia, retinal vein thrombosis, cataract nuclear, blindness cortical, cataract subcapsular, and lacrimation disorder, were also reported disproportionality. Our study systematically described the characteristics and outcomes of oxaliplatin-related ocular toxicity and also uncovered potential oAEs that were not disclosed in the package insert. Further prospective epidemiologic studies to validate these findings are warranted.

Clinical correlation of optic nerve head analysis performed by SD-OCT in children with pseudopapilledema and papilledema

PurposeTo investigate some diagnostic indicators in optic nerve head (ONH) analysis of children with ‘Pseudopapilledema’ and ‘Papilledema’ by Spectral Domain Optical Coherence Tomography (SD-OCT). MethodsMedical records of 52 children with optic disc swelling, who were followed up by the departments of pediatric neurology and ophthalmology between May 2018 and May 2019 were reviewed retrospectively. Cases were classified as group 1 (Papilledema secondary to Idiopathic Intracranial Hypertension) including 54 eyes of 27 cases, group 2 (Pseudopapilledema secondary to bilateral optic disc drusen) including 50 eyes of 25 cases and control group. Three-dimensional imaging of ONH, peripapillary retinal nerve fiber layer (RNLF) thickness, Bruch's membrane opening height in the nasal respectively temporal quadrant (BMHN, BMH-T) levels were measured by SD-OCT and B-mode ocular ultrasonography data of all cases were evaluated. ResultsWhen RNFL levels were compared between groups, nasal RNFL levels were found to be significantly higher in group 1 cases compared to group 2 (p < 0.001). In 3D imaging of the ONH among group 1 patients, the mean height of the apex in disc swelling was significantly higher than that of group 2 (p = 0,024). The apex in disc swelling was mostly observed to be localized at the middle and had a diffuse swelling pattern in group 1; whereas, in group 2, the it was localized mostly at the nasal quadrant. This variation was statistically significant (p < 0.001). When, Bruch's membrane opening height in the nasal respectively temporal quadrant (BMHN, BMH-T) levels were compared, the measurements obtained were found to be significantly higher in group 1 (p = 0,050 and p = 0,003 respectively). ConclusionNasal RNFL values of SD-OCT, Bruch's membrane opening height in the nasal respectively temporal quadrant (BMHN, BMH-T) levels, the location of the apex in disc swelling obtained by 3D analysis of the ONH are found to be potential diagnostic parameters when combined with clinical findings. It is important that the nasal quadrant elevation, where the highest peak in 3D imaging was measured, was higher in the papilledema group. The elevation of the optic disc peak in 3D imaging can be used as a parameter to help clinicians distinguish between optic disc drusen (ODD) and papilledema.

Ophthalmologic symptoms as the first manifestation of primary complete empty sella syndrome- case report

Background: Empty sella syndrome (ESS) is a rare condition associated with loss of pituitary gland volume. ESS has a heterogeneous clinical manifestation including endocrine, neurological, and visual deficits. The most common symptoms include chronic headaches and hormonal disturbances associated with hypopituitarism.Aim of the study: To emphasize the role of ophthalmologists in the initial management of intracranial hypertension and the significance of a multidisciplinary approach in the management of ESS.Case report: Primary complete ESS was reported in a 32-year-old male presenting nonspecific ophthalmologic symptoms including ophthalmalgia and subjective worsening of the visual acuity. The ophthalmological exam revealed bilateral optic disk elevation. The subsequent MRI identified a suprasellar cistern invaginating within sella turcica with resulting pituitary gland flattening. A complete empty sella syndrome was confirmed. In addition, idiopathic intracranial hypertension was suspected. The patient was proposed hospitalization in the neurology department for additional testing however, he refused due to personal reasons.Conclusions: To date, only a few papers reported ESS with preliminary ophthalmological symptoms. All patients with nonspecific eye symptoms should have a complex ophthalmological examination. Bilateral optic disk elevation requires urgent imaging of the brain and orbits, and the golden-standard approach remains MRI. During the diagnostic process, the secondary causes of intracranial hypertension including tumor, bleeding, abscess, hydrocephalus, or venous sinus thrombosis must be excluded. Due to the heterogeneous clinical course of ESS, patients require multidisciplinary management and follow-up by endocrinologists, neurologists, neurosurgeons, and ophthalmologists.

Refractory Central Serous Retinal Detachment in the Presence of Optic Disc Pit – Case Report

Among congenital optic disc anomalies are megalopapilla, optic nerve aplasia and hypoplasia (de Morsier’s syndrome) and optic disc excavations. The latter are attributed to abnormal fetal fissure’s closure. There is a wide spectrum of these anomalies ranging from single optic disc pit, to multiple pits, to morning glory syndrome. Excavated defects of the optic disc are usually associated with retinal detachment in the macular region. It is usually confined to the macular region though a subtotal or total retinal detachment may occur. It requires treatment (a surgical approach in most cases) though a spontaneous resolution of the subretinal fluid within a short period of the detachment onset has been observed. We report a case of unilateral central serous retinal detachment in the presence of a bilateral optic disc pit refractory to primary treatment.

Vogt-Koyanagi-Harada Disease Presented with Bilateral Optic Disc Edema

Vogt-Koyanagi-Harada (VKH) disease is a multisystem inflammatory disease that occurs when body tissues including melanocytes are damaged by autoimmunity. The typical symptoms of VKH are bilateral multifocal uveitis and serous retinal detachment. Our patient was misdiagnosed as idiopathic intracranial hypertension because there were no other characteristic neurological symptoms other than bilateral optic disc edema. However, intracranial pressure was normal and pleocytosis was found, so VKH disease could be diagnosed. Bilateral optic disc edema may be a initial manifestation of VKH disease.

Chronic myeloid leukemia presenting with disc edema: A case report

The aim is to report a case of chronic myeloid leukemia (CML) in a 20-year-old female who initially presented with bilateral optic disc edema and headaches, and to raise awareness of uncommon causes of disc edema that could potentially be life-threatening. The patient first presented in June 2022 with blurry vision in the left eye, headache, and neck pain of 6 months duration. Initial examination revealed a young woman in no acute distress, with a blood pressure of 100/60 mm Hg and a body mass index of 26.98. Her pinhole visual acuity was 6/9 in both eyes, extraocular motility was full bilaterally, and both pupils were briskly reactive. However, she had bilateral optic disc edema. Both brain and orbital magnetic resonance imaging (MRI) revealed normal findings. Serological tests for syphilis and human immunodeficiency virus were negative. Based on these and the clinical features, an initial diagnosis of idiopathic intracranial hypertension was made, and the patient was started on acetazolamide tablets. She was followed up for approximately 1 year without resolution of symptoms. At a follow-up visit in December 2023, she was found to have developed dilated tortuous vessels with discrete retinal lesions. A peripheral blood film result showed that the patient had CML. In conclusion, a high index of suspicion should be entertained when managing a patient with unexplained bilateral disc swelling with normal brain MRI study. A complete blood workup, including a peripheral blood film, should be included as a part of the routine investigation of these patients so that diagnosis and treatment could be instituted early.

Clinical features of COVID-19-related optic neuritis: a retrospective study.

This retrospective study aimed to investigate the clinical features of optic neuritis associated with COVID-19 (COVID-19 ON), comparing them with neuromyelitis optica-associated optic neuritis (NMO-ON), myelin oligodendrocyte glycoprotein-associated optic neuritis (MOG-ON), and antibody-negative optic neuritis (antibody-negative ON). Data from 117 patients (145 eyes) with optic neuritis at the Shantou International Eye Center (March 2020-June 2023) were categorized into four groups based on etiology: Group 1 (neuromyelitis optica-related optic neuritis, NMO-ON), Group 2 (myelin oligodendrocyte glycoprotein optic neuritis, MOG-ON), Group 3 (antibody-negative optic neuritis, antibody-negative ON), and Group 4 (optic neuritis associated with COVID-19, COVID-19 ON). Characteristics of T2 and enhancement in orbital magnetic resonance imaging (MRI) were assessed. Best-corrected visual acuity (BCVA) was compared before treatment, at a short-term follow-up (14 days), and at the last follow-up after treatment. The COVID-19-associated optic neuritis (COVID-19 ON) group exhibited 100% bilateral involvement, significantly surpassing other groups (P < 0.001). Optic disk edema was observed in 100% of COVID-19 ON cases, markedly differing from neuromyelitis optica-related optic neuritis (NMO-ON) (P = 0.023). Orbital magnetic resonance imaging (MRI) revealed distinctive long-segment lesions without intracranial involvement in T1-enhanced sequences for the COVID-19 ON group compared to the other three groups (P < 0.001). Discrepancies in optic nerve sheath involvement were noted between the COVID-19 ON group and both NMO-ON and antibody-negative optic neuritis (antibody-negative ON) groups (P = 0.028). Before treatment, no significant difference in best-corrected visual acuity (BCVA) existed between the COVID-19 ON group and other groups. At the 14-day follow-up, BCVA in the COVID-19 ON group outperformed the NMO-ON (P < 0.001) and antibody-negative ON (P = 0.028) groups, with no significant difference observed compared to the myelin oligodendrocyte glycoprotein optic neuritis (MOG-ON) group. At the last follow-up after treatment, BCVA in the COVID-19 ON group significantly differed from the NMO-ON group (P < 0.001). Optic neuritis associated with COVID-19 (COVID-19 ON) predominantly presents with bilateral onset and optic disk edema. Orbital magnetic resonance imaging (MRI) demonstrates that COVID-19 ON presents as long-segment enhancement without the involvement of the intracranial segment of the optic nerve in T1-enhanced images. Glucocorticoid therapy showed positive outcomes.

The Increasing Burden of Emergency Department and Inpatient Consultations for "Papilledema".

Increasing incidence of idiopathic intracranial hypertension (IIH), overreported radiologic signs of intracranial hypertension, difficult access to outpatient neuro-ophthalmology services, poor insurance coverage, and medicolegal concerns have lowered the threshold for emergency department (ED) visits for "papilledema." Our objective was to examine referral patterns and outcomes of neuro-ophthalmology ED and inpatient consultations for concern for papilledema. At one university-based quaternary care center, all adults referred for "papilledema" over one year underwent a standardized ED "papilledema protocol." We collected patient demographics, final diagnoses, and referral patterns. Over 1 year, 153 consecutive patients were referred for concern for papilledema. After papilledema protocol, 89 of 153 patients (58%) had bilateral optic disc edema, among whom 89% (79/89) had papilledema (intracranial hypertension). Of the 38 of 153 (25%) consultations for suspected disorder of intracranial pressure without previous fundus examination (Group 1), 74% (28/38) did not have optic disc edema, 21% (8/38) had papilledema, and 5% (2/38) had other causes of bilateral disc edema. Of the 89 of 153 (58%) consultations for presumed papilledema seen on fundus examination (Group 2), 58% (66/89) had confirmed papilledema, 17% (15/89) had pseudopapilledema, and 9% (8/89) had other causes of bilateral optic disc edema. Of the 26 of 153 (17%) patients with known IIH (Group 3), 5 had papilledema and 4 required urgent intervention. The most common diagnosis was IIH (58/79). Compared with IIH, patients with secondary causes of intracranial hypertension were older (P = 0.002), men (P < 0.001), not obese (P < 0.001), and more likely to have neurologic symptoms (P = 0.002). Inpatient and ED consultations for "papilledema" are increasing. Of the 153 ED and inpatient neuro-ophthalmology consultations seen for "papilledema" over 1 year, one-third of patients with optic disc edema of unknown cause before presentation to our ED had new vision- or life-threatening disease, supporting the need for prompt identification and evaluation of optic disc edema in the ED. In the face of limited access to neuro-ophthalmologists, this study supports the need for emergency department access to expert eye-care evaluation or ocular fundus camera for prompt identification of optic disc edema and standardized evaluation for neurologic emergencies.

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

BackgroundKlippel–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 presentationThis 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.ConclusionThis 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.

Tubulointerstitial Nephritis and Uveitis Syndrome During the COVID-19 Pandemic: A Case Series.

To report the ocular findings, laboratory results, and management of patients with tubulointerstitial nephritis and uveitis syndrome (TINU), whose numbers increased during the 2019 coronavirus disease (COVID-19) pandemic. Demographic characteristics, ophthalmic examination findings, laboratory results including polymerase chain reaction (PCR) test for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), serum SARS-CoV-2 immunoglobulin G (IgG) antibody, and treatment of patients diagnosed with TINU between March 2020 and March 2022 were evaluated retrospectively. The study included 19 eyes of 10 patients (6 female/4 male). The mean age was 13.5±2.4 years (range: 8-16 years). The mean follow-up duration was 13.5±6.1 months (range: 6-24 months). All patients presented with anterior uveitis. Anterior uveitis was bilateral in 9 patients (90%) and unilateral in 1 patient (10%). Posterior segment findings were normal in 8 patients (80%), and bilateral optic disc edema was observed in only 2 patients (20%). None of the patients had a previous SARS-CoV-2 infection and/or vaccination history. The SARS-CoV-2 PCR test was negative in all patients at presentation. The SARS-CoV-2 IgG antibody test was reactive in 7 patients (70%). Recurrent uveitis developed in 8 patients (80%) during follow-up. Systemic immunomodulatory therapy was required for the control of ocular inflammation in 7 patients (70%) with severe uveitis flare-ups. TINU is a multisystemic autoimmune disease, especially in response to environmental triggering factors such as viral infections. Although TINU is a rare disease, the number of cases increased during the COVID-19 pandemic. SARS-CoV-2 antibodies were detected at a significant rate of 70% in these patients, who did not have a history of SARS-CoV-2 infection and vaccination. Previous asymptomatic SARS-CoV-2 infection in children may be a triggering factor in the development of TINU.

Terson Syndrome: what an ophthalmologist should know?

Abstract&#x0D; Introduction : Terson syndrome is the occurrence of any intraocular hemorrhage in patients with intracranial hemorrhage or traumatic brain injury. In this article we present a case of patient with Terson Syndrome after craniotomy.&#x0D; Case Illustration : Forty-six yo female patient consulted from neurosurgery department with chief complain of blurry vision in both eyes since 1 day before. Pain or red eyes were denied. There was no history of visual field defect. She had history of breast cancer and she underwent craniotomy four days before because of her brain metastases. Her Glasgow Coma Scale was 15. In ophthalmology examination, her visual acuity is 6/6 with correction in both eyes with good ocular motility. RAPD was positive in her left eye, and posterior segment showed bilateral optic disc edema with intrapapillary and peripapillary hemorrhage. Humphrey examination revealed enlargement of blind spot in the right eye. Brain CT Scan demonstrated hemorrhagic lesion with pneumoencephal within post operative defect area in right parietal lobe. Laboratory examination showed normal fibrinogen and thrombocyte aggregation with elevation of d-dimer. After two weeks observation, visual acuity still 6/6 in both eyes with decreasing intrapapillary and peripapillary hemorrhage.&#x0D; Discussion : The exact pathophysiology of Terson Syndrome is still unknown. Even though, it has association with high intracranial pressure. Patient with Terson Syndrome will develop 5 times higher mortality rate compare to subarachnoid hemorrhage without Terson Syndrome.&#x0D; Conclusion : Terson Syndrome needs to be recognized early since it will bring significant prognostic effect and cause permanent vision loss if left untreated

EARLY DIAGNOSIS AND TREATMENT OF VOGT-KOYANAGI-HARADA SYNDROME WITH OPTIC DISC SWELLING : A CASE REPORT

Introduction : Vogt-Koyanagi-Harada (VKH) syndrome is characterized as a multisystem autoimmune disease that affects the pigmented tissues of the eye, auditory system, skin, and central nervous system. Optic disc swelling is a common finding during the prodromal and acute uveitis stage and must be considered seriously.&#x0D; Case Illustration : A 41-year-old woman presented with blurred vision in both eyes in the last month, accompanied by headache, nausea, and vomiting. There is no history of penetrating ocular trauma or surgery. Examination findings for visual acuity were light perception, bilateral posterior synechia, optic disc swelling, and serous retinal detachment. A steroid injection was given due to swelling of the optic disc, and four months later, the visual acuity improved to 20/120 and 20/60, respectively, and optic disc swelling and serous retinal detachment decreased.&#x0D; Discussion : In the acute uveitic stage, VKH can be presented with bilateral optic disc edema and various degrees of serous retinal detachment. The key to the management of VKH is early diagnosis and systemic corticosteroid in the acute uveitis stage, otherwise, improper and inadequate treatment can lead to chronic recurrent VKH disease. Our patient presented with acute uveitis and was treated promptly and adequately.&#x0D; Conclusion : Optic disc swelling may occur in VKH and worsen the visual prognosis, early diagnosis and treatment of VKH syndrome focused on optic disc swelling can improve the visual prognosis.

Optical coherence tomography in papilledema: A probe into the intracranial pressure correlation.

To study the optic nerve head characteristics on optical coherence tomography (OCT) in patients with papilledema and correlate them with intracranial pressure (ICP). A retrospective hospital-based study of 46 eyes of 23 patients with bilateral optic disc edema secondary to increased ICP. The clinical profile and the OCT features in terms of retinal nerve fiber layer thickness (RNFL), ganglion cell inner plexiform layer (GCIPL) thickness, and enhanced depth imaging (EDI) B scan images of the optic nerve head were studied and correlated with the ICP. Papilledema was secondary to idiopathic intracranial hypertension (IIH) ( n = 20), obstructive hydrocephalus ( n = 2), and communicating hydrocephalus ( n = 1). The mean ICP in 20 IIH patients was 347 mmH 2 O. The ICP and RNFL thickness in all four quadrants were found to be weakly positively correlated: superior RNFL r (38) = 0.17, P = 0.30, and nasal RNFL r (38) = 0.30, P = 0.05, inferior RNFL r (38) = 0.29, P = 0.07, and temporal RNFL, r (38) = -0.001, P = 0.99. The GCIPL layer thickness and the ICP were weakly negatively correlated in all sectors: superior (38) = -0.23, P = 0.16, superonasal, r (38) = -0.07, P = 0.67, inferonasal r (38) = -0.08, P = 0.64, inferior r (38) = -0.21, P = 0.19, inferotemporal r (38) = -0.23, P = 0.17, superotemporal, r (38) -0.21, P = 0.20. Descriptive features on the B scan, such as peripapillary hyperreflective ovoid mass-like structures and microcystic spaces, were observed most commonly with an ICP of 251-350 mmH 2 O, and the hyperreflective dots in the RNFL layer and Bruch's membrane inward denting were observed more commonly with an ICP of 351-450 mmH 2 O. The RNFL thickness in all four quadrants had a weak positive correlation, and the GCIPL layer had a weak negative correlation with the ICP. The EDI descriptive features on OCT may vary with ICP.

An analysis of the etiology composition and clinical characteristics of bilateral optic disc swelling

Objective: To investigate the etiology composition and clinical characteristics of bilateral optic disc swelling(ODS). Methods: The medical records of all newly diagnosed bilateral ODS patients admitted to the neurology ward of Beijing Tongren Hospital from January 2017 to June 2021 were retrospectively searched to classify the etiology, obtain demographic and clinical information, and compare the differences in clinical characteristics. Results: A total of 131 patients with bilateral ODS were included, including 56 males and 75 females, aged 15-73 (39±14) years. The most common cause of the bilateral ODS was increased intracranial pressure (ICP)(56/131, 42.7%), followed by optic neuritis (ON)(40/131, 30.5%). Other causes included vascular optic neuropathy (13/131, 9.9%), pseudopilledema (9/131, 6.9%); uveitis (6/131, 4.6%), toxic optic neuropathy (3/131, 2.3%) and unknown causes (4/131, 3.1%). Idiopathic intracranial hypertension (IIH) (43/56, 76.8%) was the most common etiology for papilledema. In the comparison of the two main causes of intracranial hypertension and the clinical characteristics of ON in ODS, there was no statistically significant difference in the incidence of age, gender, complaints of ocular pain or headache, and hemorrhage of optic disc(P>0.05). Visual acuity abnormalities and low vision were more common in ON group than the increased ICP group[36/40(90%) vs 33/56(58.9%), P=0.001; 35/80(43.8%) vs 22/112(19.6%), P<0.001], while severe papilledema was more common in increased ICP group[38/112(33.9%)vs 9/80(11.3%), P<0.001]. Conclusions: The most common cause for bilateral ODS is increased ICP, but it can also be triggered by a variety of other causes. Optic neuritis(ON) is the most important differentiating disease in the study of Chinese patients.

Isolated Intracranial Hypertension as a Presentation of Pediatric Lyme Borreliosis: A Case Report and Literature Review

BackgroundIt is extremely rare for Lyme borreliosis to present solely with features of increased intracranial pressure. The treatment of pediatric Lyme neuroborreliosis with oral versus intravenous antibiotics remains controversial. MethodsCase report and literature review. ResultsA 13-year-old male presented with five days of binocular diplopia, several weeks of headache, and a history of multiple tick bites six weeks prior. His examination showed a left eye abduction deficit and bilateral optic disc edema. Magnetic resonance imaging (MRI) of the brain with contrast showed tortuosity of the optic nerves, prominence of the optic nerve sheaths, and enhancement of the left fifth and bilateral sixth cranial nerves. Lumbar puncture showed an elevated opening pressure and a lymphocytic pleocytosis. Lyme IgM and IgG antibodies were positive in the serum and cerebrospinal fluid. The patient was treated with intravenous ceftriaxone for two days empirically followed by doxycycline by mouth for 19 days. Symptoms began improving after 48 hours. The strabismus resolved after two weeks, and the papilledema improved slowly with complete resolution at six months. ConclusionsLyme neuroborreliosis can present as isolated intracranial hypertension in the pediatric population; it can be differentiated from idiopathic intracranial hypertension on MRI, and lumbar puncture and can be confirmed with serum antibody testing. Oral doxycycline can be considered for Lyme neuroborreliosis in children.

Bilateral optic neuropathy as the initial presentation in a patient with systemic lupus erythematosus

Optic neuropathy is a very rare sight-threatening complication associated with systemic lupus erythematosus (SLE). A 35-year-old female presented with sudden-onset bilateral loss of vision of 6 weeks’ duration. She had a positive history of skin rash, arthralgia, and fever. Funduscopy revealed bilateral pale optic discs. Laboratory and radiological investigations led to a diagnosis of SLE-associated optic neuropathy. The patient was treated with pulse steroids and hydroxychloroquine. No improvement in vision was noted in the initial follow-up after the initiation of treatment.

What OPA1 models teach us about potential therapy

Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy, affecting approximately 1 in 25 000 people. DOA has an insidious onset in early childhood. It presents typically with bilateral central painless vision loss, dyschromatopsia, and optic disc pallor due to gradual retinal ganglion cell (RGC) loss and optic nerve degeneration. 60%–70% of genetically confirmed DOA cases are associated with variants in OPA1. OPA1 is an ubiquitously expressed GTPase that regulates mitochondrial homeostasis through coordination of inner membrane fusion, maintenance of cristae structure, and maintenance of bioenergetic output. Over 250 known pathogenic variants in OPA1 have been reported, with missense variants within the GTPase domain associated with an increased susceptibility to developing DOA plus (DOA+), a multisystemic syndromic form of the disease with extraocular features, including sensorineural hearing loss and ataxia. Current therapeutic options to treat DOA are limited. Idebenone has been shown to protect against visual loss in Leber's hereditary optic neuropathy (LHON). In DOA off ‐label retrospective series show some promise in some patients.Animal models for OPA1 DOA, have been reported, including Drosophila, C elegans, Danio rerio and mouse models. They have cast light on some potential therapeutic modalities. Despite limitations, murine models of DOA are currently indispensable for understanding pathophysiology of disease, drug testing and development. They replicate many symptoms and signs of human disease. However, there are caveats. Chemically induced Complex I deficits are very toxic. Genetic models of mitochondrial mutation affect protein integrity and function and can cause severe pathologies. This is made more problematic if there is a need for aging the mouse to bring out the full phenotype. We shall review the mouse models and describe some features that aid or our understanding of pathophysiological mechanisms. Our research has characterized the earliest morphological changes as a progressive loss of synapses, dendrite retraction and RGC remodelling and loss of connectivity. In the DOA mouse Opa1+/− mouse (B6;C3‐Opa1Q285STOP), heterozygous Opa1+/− mice develop visual defects, on psychophysics (optokinetic response) and electrophysiology (VEP, PhNR), consistent with RGC dysfunction. There is depressed mitochondrial Complex I and IV activity. Visible structural changes and disrupted axon morphology in the optic nerve are seen. We have carried out a randomized, placebo‐controlled trial of the benzoquinone idebenone in our ADOA mouse, which revealed a limited therapeutic effect on RGC dendropathy and visual function.It is apparent that there are large differences between the rodent and primate visual system. The fovea of the retina, a critical component for central vision is one of the only primate‐specific components of the mammalian nervous system and is thus, not found in rodent. For these reasons, there is a strong case to use human cells. We shall review data on induced human pluripotent stem cell (hiPSC) with OPA1 mutation, with or without differentiation to RGCs, as models, and on CRISPRCas9 correction of patient‐derived OPA1 iPSC lines.

Anterior optic neuritis associated with clamydia trachomatis prostatitis

Aims/Purpose: Parainfectious optic neuritis appears between one and 3 weeks after the onset of an infectious episode of viral or more rarely, bacterial aetiology. Hereby we present a case of bilateral optic disc edema presented during the course of a chlamydia trachomatis prostatitis, which spontaneously resolved after treatment.Methods: A 32‐year‐old patient who, in a context of a 10 days evolution prostatitis, suffers from a loss on the lower visual field in the right eye (OD) associated with cervical pain, fever and malaise. Ophthalmologic examination reveals bilateral optic disc oedema, and complementary tests show an elevation of C‐reactive protein up to 104 mg/L, visual evoked potentials with increased latency (more in OD) and the incidental finding of bilateral papillary drusen evidenced on computerized axial tomography.Results: The detection of chlamydia trachomatis DNA in a semen sample leads to an adjustment of antibiotic treatment. A month later, after fully healing of the prostatitis, the resolution of the papillary oedema in both eyes was observed with persistence of a pseudoedema typical of papillary drusen, as well as an improvement of the visual field whose residual affectation is reduced to arciform defects consistent too with the described drusen.Conclusions: This case has the peculiarity of presenting an optic disc oedema superimposed on a pseudoedema by papillary drusen. Although choroiditis has been described as a rare ophthalmic manifestation of systemic chlamydia trachomatis infection, there is no previous literature describing optic neuritis. In our patient, the proposed pathogenic mechanism is a parainfectious autoimmune reaction whose prognosis is excellent.