Chiari Malformation Type I With Concurrent Bilateral Optic Disc Drusen: Is Follow-up Necessary?

Pseudopapilledema caused by optic disc drusen (ODD) mimics the appearance of papilledema and usually presents as a diagnostic challenge. A young boy with known Chiari malformation type 1 (CM-1) was referred to the pediatric ophthalmology clinic for eye assessment to exclude papilledema due to elevated intracranial pressure (ICP). Despite the ophthalmic examination revealing bilateral optic disc elevation, multimodal imaging techniques such as fundus autofluorescence, optical coherence tomography (OCT), and B-scan ultrasonography are recommended to confirm the distinction between bilateral ODD causing pseudopapilledema and papilledema secondary to elevated ICP. Accidental coexistent papilledema mimickers like ODD need to be considered in patients with CM-1 before making a diagnosis of papilledema to avoid unnecessary invasive procedures. There was no evidence that the presence of ODD excludes the possibility of future optic nerve head changes due to elevated ICP. The multidisciplinary consensus decided on annual ophthalmology follow-ups using multimodal imaging to detect any subtle optic nerve head changes.

Optic Disc Drusen in Pseudoxanthoma Elasticum Are Associated with the Extent of Bruch's Membrane Calcification.

Background/Objectives: To assess the frequency, extent, localization and potential progression of optic disc drusen (ODD) and the correlation with the angioid streak (AS) length and retinal atrophy in patients with pseudoxanthoma elasticum (PXE). Methods: This retrospective study included patient data from a dedicated PXE clinic at the Department of Ophthalmology, University of Bonn, Germany (observation period from February 2008 to July 2023). Two readers evaluated the presence, localization, and the extent of the ODD on fundus autofluorescence (FAF) imaging at baseline and the follow-up assessments. Additionally, we measured the length of the longest AS visible at baseline and follow-up and the area of atrophy at baseline, both on FAF. Results: A total of 150 eyes of 75 PXE patients (median age at baseline 51.8 years, IRQ 46.3; 57.5 years, 49 female) underwent retrospective analysis. At baseline, 23 of 75 patients exhibited ODD in a minimum of one eye, resulting in an ODD prevalence of 30.7% in our cohort of PXE patients. Among these, 14 patients showed monocular and 9 binocular ODD that were localized predominantly nasally (46.9%). During the observational period (mean 97.5 ± 44.7 months), only one patient developed de novo ODD in one eye and one other patient showed a progression in the size of the existing ODD. The group of patients with ODD had significantly longer ASs (median 7020 µm, IQR 4604; 9183, vs. AS length without ODD: median 4404 µm, IQR 3512; 5965, p < 0.001). No association with the size of the atrophy was found at baseline (p = 0.27). Conclusions: This study demonstrates a prevalence of ODD of 30.7%. ODD presence is associated with longer ASs (an indicator of the severity and extent of ocular Bruch's membrane calcification), suggesting that ODD formation is tightly related to ectopic calcification-possibly secondary to calcification of the lamina cribrosa. Prospective studies investigating the impact of ODD (in conjunction with intraocular pressure) on visual function in PXE warrant consideration.

Diagnostic dilemma of papilledema and pseudopapilledema.

BACKGROUND: Papilledema is the optic disc swelling caused by increased intracranial pressure (ICP) that can damage the optic nerve and cause subsequent vision loss. Pseudopapilledema refers to optic disc elevation without peripapillary fluid that can arise from several optic disc disorders, with optic disc drusen (ODD) being the most frequent cause. Occasionally, pseudopapilledema patients are mistakenly diagnosed as papilledema, leading to the possibility of unneeded procedures. We aim to thoroughly examine the most current evidence on papilledema and pseudopapilledema causes and several methods for distinguishing between both conditions. METHODS: An extensive literature search was conducted on electronic databases including PubMed and google scholar using keywords that were relevant to the assessed pathologies. Data were collected and then summarized in comprehensive form. RESULTS: Various techniques are employed to distinguish between papilledema and pseudopapilledema. These techniques include Fundus fluorescein angiography, optical coherence tomography, ultrasonography, and magnetic resonance imaging. Lumbar puncture and other invasive procedures may be needed if results are suspicious. CONCLUSION: Papilledema is a sight-threatening condition that may lead to visual affection. Many disc conditions may mimic papilledema. Accordingly, differentiation between papilledema and pseudopailledema is crucial and can be conducted through many modalities.

Imagen en retromodo para el diagnóstico de drusas del disco óptico: una serie de casos / Retro-mode imaging for the diagnosis of optic disc drusen: A case series

Objetivo: Nuestro principal objetivo es el de comparar la capacidad para detectar las drusas del disco óptico (DDO) utilizando diversas técnicas de imágenes no-invasivas, incluida la novedosa técnica de imagen de retromodo (RMI). Como segundo objetivo analizamos las características morfológicas de las DDO bajo esta última técnica. Materiales y métodos: Este estudio incluyó un total de 7 pacientes con DDO bilaterales, obteniendo un total de 14 ojos analizados. Se utilizaron técnicas no invasivas de imágenes multimodales, que incluyeron fotografía multicolor del fondo de ojo (MC), reflectancia en infrarrojo (NIR), autofluorescencia en luz verde y en luz azul (G-FAF y B-FAF, respectivamente) y RMI. La FAF se utilizó como el método principal para el diagnóstico de DDO. Dos observadores realizaron las comparaciones, obteniendo las tasas de detección de cada uno de los métodos. Las mediciones cuantitativas de las DDO incluyeron el número, el perímetro (P) y el área (A) de las DDO identificadas mediante la técnica de RMI. Resultado: La edad promedio de los pacientes incluidos fue de 49,28±23,16 años; 5 de los 7 pacientes fueron de sexo masculino. La técnica de RMI pudo detectar DDO en todos los casos, con una sensibilidad del 100%, en comparación con MC (sensibilidad del 60,71%), NIR (sensibilidad del 60,71%), B-FAF (sensibilidad del 100%), G-FAF (sensibilidad del 100%). RMI fue la única técnica de imagen capaz de evaluar morfológica y cuantitativamente las DDO. Conclusiones: RMI es una prometedora modalidad no-invasiva de imagen para diagnosticar DDO superficiales, proporcionando información valiosa sobre la distribución, la ubicación y el tamaño de estas. Por lo tanto, mediante nuestros resultados sugerimos la incorporación de la novedosa técnica de RMI como una herramienta complementaria para el diagnóstico y el seguimiento de DDO en combinación con los otros métodos de imagen multimodales.(AU)

Objective: We aimed to compare the detectability of optic disc drusen (ODD), using various non-invasive imaging techniques, including the novel retro-mode imaging (RMI), as well as to analyze the morphological characteristics of ODD on RMI. Methods: This study involved 7 patients with bilateral ODD, totaling 14 eyes. Multimodal imaging techniques, including multicolor fundus photography (MC), near-infrared reflectance (NIR), green and blue light fundus autofluorescence (G-FAF and B-FAF, respectively), and RMI were used to examine the eyes. FAF was used as the primary method of identifying ODD, and each method's detection rate was compared by two observers. Quantitative measurements of ODD included the number of ODD visualized by the RMI technique, the perimeter (P) and area (A) of ODD were identified. Results: The average age of the patients included was 49.28±23.16 years, with 5 of the 7 being men. RMI was able to detect ODD in all cases, with a sensitivity of 100%, compared to MC (sensitivity 60.71%), NIR (sensitivity 60.71%), B-FAF (sensitivity 100%), G-FAF (sensitivity 100%). RMI was the only imaging technique capable of assessing ODD morphology and quantifying ODD. Conclusions: RMI is a promising imaging modality for diagnosing superficial ODD, providing valuable information on the distribution, location, and size of ODD. We suggest the incorporation of RMI as a complementary tool for diagnosing and monitoring ODD in combination with other multimodal imaging methods.(AU)

In-Clinic Detection of Optic Disc Drusen Using Hand-Held Ultrasound Technology.

Neuro-ophthalmologists commonly receive referrals for possible papilloedema. One common cause of oedematous-appearing optic nerves is optic disc drusen (ODD). We describe a novel, handheld, portable ultrasound device that can be used to identify ODD in cases of suspected papilloedema. We demonstrate here that this portable ultrasound system can detect ODD in the outpatient ophthalmology and neurology settings. The portable version demonstrates several advantages. The device can be carried into the office, readily reducing visit times and office space. It is much more affordable than a traditional ultrasound machine. Images can be uploaded to a secure server and imported into the patient's chart. These cases represent one potential ophthalmological application of this novel technology that could augment the ophthalmological examination and improve patient care in the future.

Validation of retinal oximetry vessel selection using fluorescein angiography in patients with optic disc drusen.

Retinal oximetry could provide insights into the pathophysiology of optic nerve disease, including optic disc drusen (ODD). Vessel selection for oximetry analysis is based on morphological characteristics of arterioles and venules and supported by an overlay of estimated blood oxygen saturations. The purpose of this cross-sectional study was to determine the validity of this vessel selection procedure by comparing it with vessel selection supported by video fluorescein angiography (FA). The study included 36 eyes of 36 patients with ODD who underwent retinal oximetry (Oxymap retinal oximeter T1) followed by FA (Heidelberg Spectralis). Two trained graders selected vessel segments in a pre-defined measurement area around the optic disc. One of these graders additionally performed the vessel segment selection with the support of FA images. When performed by the same grader, FA-supported and non-FA-supported vessel selection did not lead to significant differences in total vessel segment length, estimated oxygen saturations or vessel diameters (all p > 0.05). Inter-grader differences were found for arterial and venous segment lengths and arterial saturation (p < 0.05). A similar tendency was found for the arteriovenous saturation difference (p = 0.10). In conclusion, identifying vessel segments for retinal oximetry analysis based on vessel morphology and supported by a color-coded saturation overlay appears to be a valid method without the need for invasive angiography. A numerically small inter-grader variation may influence oximetry results. Further studies of retinal oximetry in ODD are warranted.

Retro-mode imaging for the diagnosis of optic disc drusen: a case series.

OBJECTIVE: We aimed to compare the detectability of optic disc drusen (ODD), using various non-invasive imaging techniques, including the novel retro-mode imaging (RMI), as well as to analyze the morphological characteristics of ODD on RMI. METHODS: This study involved seven patients with bilateral ODD, totaling 14 eyes. Multimodal imaging techniques, including multicolor fundus photography (MC), near-infrared reflectance (NIR), green and blue light fundus autofluorescence (G-FAF and B-FAF, respectively), and RMI were used to examine the eyes. FAF was used as the primary method of identifying ODD, and each method's detection rate was compared by two observers. Quantitative measurements of ODD included the number of ODD visualized by the RMI technique, the perimeter (P) and area (A) of ODD were identified. RESULTS: The average age of the patients included was 49.28 ±â€¯23.16 years, with five of the seven being men. RMI was able to detect ODD in all cases, with a sensitivity of 100%, compared to MC (sensitivity 60.71%), NIR (sensitivity 60.71%), B-FAF (sensitivity 100%), G-FAF (sensitivity 100%). RMI was the only imaging technique capable of assessing ODD morphology and quantifying ODD. CONCLUSIONS: RMI is a promising imaging modality for diagnosing superficial ODD, providing valuable information on the distribution, location, and size of ODD. We suggest the incorporation of RMI as a complementary tool for diagnosing and monitoring ODD in combination with other multimodal imaging methods.

Peripapillary hyperreflective ovoid mass-like structures and the retinal nerve fiber layer thinning.

AIM: We describe a report of three cases of bilateral Peripapillary Hyperreflective Ovoid Mass-Like Structures (PHOMS), their respective multimodal imaging, and retinal nerve fiber layer (RNFL) analysis over time. METHODS: We performed an elaborated multimodal imaging of three pediatric patients with PHOMS. We performed a visual acuity testing, followed by a biomicroscopic and fundus examination, an additional Optical Coherence Tomography (OCT), fundus autofluorescence (FAF), infra-red (IR), fluorescein angiography (FA), Scanning laser Ophtalmoscopy (SLO), and retro-mode imaging. Furthermore, we analyzed RNFL thickness over several consecutive visits. RESULTS: The multimodal approach exhibited similar characteristics of PHOMS in all eyes, namely a torus-like shaped that was particularly demarcated and well visualized using SLO and retro-mode tool. In all the eyes, we found a downward trend of the RNFL over time. In both the right and left eye, RNFL at presentation averaged at 152.33 ± 25.42 and 130 ± 18.33 microns, respectively. Several weeks after, it averaged at 142 ± 30.34 and 125.67 ± 14.84 microns, respectively. CONCLUSIONS: Our report shows a thinning trend of the RNFL thickness over time in patients with PHOMS.

Prevalence of optic disc drusen: A systematic review, meta-analysis and forecasting study.

Optic disc drusen (ODD) are calcium-containing deposits in the optic nerve head, capable of causing visual field defects and sudden visual loss. The underlying pathophysiology remains inadequately understood and treatment options are missing. In this paper, we systematically reviewed prevalence studies of ODD in non-selected populations to provide an overview of its prevalence, conducted meta-analyses to determine modality-specific prevalence estimates and performed a forecasting study to estimate current and future global population number of individuals with ODD. We searched 11 literature databases on 25 October 2022 for prevalence studies of ODD in non-selected populations. Eight eligible studies provided data from a total of 27 463 individuals. Prevalence estimates were stratified according to diagnostic modalities: ophthalmoscopy 0.37% (95% CI: 0.10-0.95%), fundus photography 0.12% (95% CI: 0.03-0.24%), spectral domain optical coherence tomography with enhanced depth imaging 2.21% (95% CI: 1.25-3.42%) and histopathology 1.82% (95% CI: 1.32-2.38%). Using histopathology-based summary prevalence estimate, we forecast 145 million individuals with ODD currently, a number expected to increase further due to world population growth. These numbers underscore the importance of including ODD in health education and highlight the necessity of continuing research in ODD.

Optical coherence tomography angiography findings in optic disc drusen and idiopathic intracranial hypertension.

PURPOSE: To evaluate the changes in peripapillary microvascularity in idiopathic intracranial hypertension (IIH) and optic disc drusen (ODD) patients, by comparing them with those in healthy individuals, via optical coherence tomography angiography (OCTA). METHODS: Sixty-two eyes of 33 patients with ODD, 58 eyes of 30 patients with IIH, and 70 eyes of 70 healthy people were imaged for 6 × 6-mm optic disc scans on a spectral-domain OCTA. Vascular densities in superficial capillary plexus (SCP), deep capillary plexus (DCP), and choriocapillaris (CC) of ODD, IIH, and healthy eyes were compared with a one-way analysis of variance. Post-hoc analysis was performed with the Gabriel test. RESULTS: There was a significant decrease in peripapillary vessel density in SCP, DCP, and CC in patients with IIH compared to the control group (p < 0.05). In ODD patients, especially peripapillary vessel density in DCP was significantly reduced compared to the control group (p < 0.05). Peripapillary vessel density in DCP was significantly lower in the IIH group than ODD group (p < 0.05). CONCLUSIONS: Peripapillary vascular density may be affected during the course of the disease in both IIH and ODD. Compared to healthy individuals, the decrease in vascular density in these patients and the consequent decrease in perfusion in the peripapillary region may guide the pathogenesis of the complications in the course of these two diseases. Although vascular density in DCP and CC differs significantly between IIH and ODD, case-controlled studies are needed to evaluate the role of OCTA in the differential diagnosis of IHH and ODD.

Artificial Intelligence-Based ChatGPT Responses for Patient Questions on Optic Disc Drusen.

INTRODUCTION: Optic disc drusen (ODD) are acellular deposits in the optic nerve head, which are most often benign and asymptomatic. Patients may develop visual field defects and be at increased risk of ischemic co-morbidities. As ODD can be difficult to distinguish from papilledema, patients are at risk of unnecessary clinical workups. Patient information is a key aspect of ODD management. In this study, we explored the accuracy of ChatGPT responses for typical patient questions on ODD. METHODS: Two content experts reached consensus on 20 typical patient questions. We retrieved five separate responses for each question from ChatGPT, totaling 100 responses. Each response was evaluated on a 5-point Likert-scale on accuracy by each content expert in an individual fashion. RESULTS: The two experts were in fair/substantial agreement in the evaluation of responses (Cronbach's alpha: 0.64). Of the 100 responses, 17 were relevant and without any inaccuracies, 78 were relevant and with inaccuracies not being harmful, and five were relevant and with inaccuracies potentially harmful. The lowest accuracy scores were obtained for questions dealing with treatment and prognosis. CONCLUSIONS: ChatGPT often provides relevant answers for patient questions on ODD, but inaccuracies become potentially harmful when questions deal with treatment and prognosis.

A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit.

BACKGROUND: Microophthalmos or 'dwarf eye' is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nanophthalmos can occur in association with optic disc drusen, foveoschisis, and retinitis pigmentosa, as an autosomal recessive syndrome linked to mutations in the MFRP gene. We report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and optic disc pit in one eye. We believe this to be the first case presenting with optic disc pit in association with nanophthalmos. CASE PRESENTATION: A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had high intraocular pressure in the right eye, with a disc cupping of 0.9 with an Optic disc pit. The macular edema in the right eye was found to occur in association with the Optic disc pit, whereas, in the left eye, it was associated with intra-retinal hemorrhages and diagnosed as macular branch retinal vein occlusion secondary to hypertension. She was started on anti-glaucoma medications in both eyes and planned for Anti-VEGF injection in the left eye. CONCLUSION: This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously reported in the literature.

Peripapillary hyper-reflective ovoid mass-like structures (PHOMS): clinical significance, associations, and prognostic implications in ophthalmic conditions.

Pioneering advancements in optical coherence tomography (OCT) have facilitated the discernment of peripapillary hyper-reflective ovoid mass-like structures (PHOMS), prevalent neuro-ophthalmological findings associated with an array of ophthalmic conditions, such as optic disc drusen (ODD), papilledema, myopic/tilted optic discs, non-arteritic anterior ischemic optic neuropathy (NA-AION), and optic neuritis. Despite an expanding corpus of research, numerous inquiries persist concerning their clinical significance, correlations with ocular afflictions, and prognostic implications. This comprehensive review endeavors to impart an in-depth comprehension of PHOMS, encompassing facets like conceptualization, detection, pathogenesis, and associations with diverse ophthalmic conditions. Furthermore, we underscore several unresolved quandaries and suggest prospective avenues for future exploration.

Morpho-Functional Assessment of Retinal Ganglion Cells and Visual Pathways in Patients with Optic Disc Drusen: Superficial Drusen Visible Height as a Marker of Impairment.

The aim of this study was to assess the morpho-functional involvement of the retinal ganglion cells (RGCs) and of the visual pathways in patients with superficial (ODD-S) or deep (ODD-D) optic disc drusen. This study enrolled 17 patients with ODD (mean age of 59.10 ± 12.68 years) providing 19 eyes and 20 control subjects (mean age 58.62 ± 8.77 years) providing 20 eyes. We evaluated the following: best-corrected visual acuity, visual field mean deviation (MD), the amplitude (A) of Pattern Electroretinogram (PERG), the implicit time (IT) and A of Visual Evoked Potentials (VEPs), retinal nerve fiber layer thickness (RNFL-T) and ganglion cell thickness (GC-T). In ODD-S eyes, the drusen visible height was measured. ODD-D and ODD-S were detected in 26.3% and 73.7% of ODD eyes, respectively. Significantly (p < 0.01) reduced MD, PERG A, VEP amplitude, RNFL-T and GC-T values and significantly (p < 0.01) increased VEP IT values were found in the ODD Group as compared to the Control one. In the ODD Group, no significant correlation (p > 0.01) between PERG As and VEP ITs was found. In ODD-S, the visible height was significantly correlated (p < 0.01) with reduced MD, PERG As and RNFL-T and with increased PSD and VEP IT values. Our findings suggest that ODD might induce morpho-functional changes in RGCs and their fibers and an unrelated visual pathway dysfunction leading or not leading to visual field defects. The observed morpho-functional impairment should be ascribed to an alteration in retrograde (from the axons to the RGCs) and anterograde (from the RGCs up to the visual cortex) axoplasmic transport. In ODD-S eyes, a minimum visible height of 300 microns represented the threshold for the abnormalities, suggesting that "the higher the ODD, the worse the impairment".

The Presence of Optic Disc Drusen in Eyes with Uveitis.

PURPOSE: To evaluate the coexistence of optic disc drusen (ODD) in eyes with uveitis. METHODS: In this retrospective, observational study, patients followed up in a uvea clinic with all types of uveitis were evaluated. ODD were confirmed by ocular ultrasonography, optic nerve head enhanced-depth imaging optical coherence tomography, fundus autofluorescence, and fundus photography. RESULTS: ODD were detected in 17 of 545 (3.1%) uveitis patients. The mean age was 18.9 ± 10.4 years, and 76.5% were female. 45.5% were anterior, 42.4% were panuveitis, 6.1% were intermediate, and 6.1% were posterior uveitis. ODD were found bilaterally in all 17 patients; uveitis was unilateral in one patient. 58.8% were under the age of 18, and in this group, the rate of buried ODD was 78.9% (p = 0.039). In adults (seven patients), ODD were buried in 42.9%. CONCLUSION: ODD can be detected in eyes with uveitis and may clinically mimic optic disc edema, lead to misdiagnosis and/or overtreatment.

Discriminating Healthy Optic Discs and Visible Optic Disc Drusen on Fundus Autofluorescence and Color Fundus Photography Using Deep Learning-A Pilot Study.

The aim of this study was to use deep learning based on a deep convolutional neural network (DCNN) for automated image classification of healthy optic discs (OD) and visible optic disc drusen (ODD) on fundus autofluorescence (FAF) and color fundus photography (CFP). In this study, a total of 400 FAF and CFP images of patients with ODD and healthy controls were used. A pre-trained multi-layer Deep Convolutional Neural Network (DCNN) was trained and validated independently on FAF and CFP images. Training and validation accuracy and cross-entropy were recorded. Both generated DCNN classifiers were tested with 40 FAF and CFP images (20 ODD and 20 controls). After the repetition of 1000 training cycles, the training accuracy was 100%, the validation accuracy was 92% (CFP) and 96% (FAF), respectively. The cross-entropy was 0.04 (CFP) and 0.15 (FAF). The sensitivity, specificity, and accuracy of the DCNN for classification of FAF images was 100%. For the DCNN used to identify ODD on color fundus photographs, sensitivity was 85%, specificity 100%, and accuracy 92.5%. Differentiation between healthy controls and ODD on CFP and FAF images was possible with high specificity and sensitivity using a deep learning approach.

Optic nerve sheath diameter and axial length in patients with optic disc drusen: a cross-sectional study.

AIM: Measuring the optic nerve sheath diameter (ONSD) and the anteroposterior axial length of the eye in patients with optic disc drusen (ODD). METHODS: A total of 43 healthy volunteers and 41 patients with ODD were included in the study. The ONSD and axial length were measured in the posterior position using an ultrasound device (E-Z Scan AB5500 +) probe with a 10 MHz frequency. The ONSD was measured 3 mm behind the globe wall. Receiver operating characteristic (ROC) curve analysis was performed to determine patients with ODD using ONSD. Any p-value of < 0.05 was accepted to demonstrate significance. RESULTS: The ONSD was significantly higher (5.2 mm and 4.8 mm, p = 0.006, respectively), and the axial length was shorter (21.82 ± 2.15 mm and 23.27 ± 1.96 mm, p = 0.002, respectively) in the ODD group. The spherical equivalent was more commonly seen as hypermetropic in the ODD group (1.00 [- 0.85 to 1.75]). In the ROC analysis to determine the ONSD value in ODD diagnosis, the area under the curve was 0.6754 (95% confidence interval 0.559-0.788, p = 0.006). ONSD cutoff of 5.70 mm had a sensitivity of 0.366 and a specificity of 0.907 to diagnose ODD. CONCLUSION: In this study, the ONSD was significantly higher in the ODD group. The axial length was shorter in the ODD group. This study is the first in the literature to evaluate the ONSD in patients with optic disc drusen. Further studies are needed in this regard.

Clinical approach for suspected optic disc swelling in children: recommendations based on a six-year review.

CLINICAL RELEVANCE: Suspected optic disc swelling is a common presentation in children. The delineation between true optic disc swelling and pseudopapilloedema, its common masquerade, requires careful evaluation. A streamlined pathway is required to avoid unnecessary investigations. BACKGROUND: Papilloedema requires urgent neuroimaging, however, perceived optic disc swelling is not always true papilloedema. This study aims to investigate the outcome of referrals for optic disc swelling and formulate features that may assist in investigation and diagnosis. METHODS: A retrospective review of referrals for optic disc swelling to the Queensland Children's Hospital, Australia, between January 2014 and June 2020 was undertaken. RESULTS: Four hundred and ten children were referred for optic disc swelling. Sixty-six patients were confirmed with optic disc swelling, and 344 patients had pseudopapilloedema. The average age was 10.10 ± 3.57 and 9.90 ± 3.50 years, respectively. The most common aetiology of optic disc swelling was idiopathic intracranial hypertension (n = 25). Optic disc drusen constituted the majority of pseudopapilloedema (n = 239) and the remainder were crowded/tilted discs (n = 105). True optic disc swelling patients were more likely to experience headache (OR = 8.68, p < 0.01) and visual disturbance (OR = 2.14, p = 0.03). B-scan was the most sensitive for the detection of optic disc drusen (100%), followed by optical coherence tomography (70.38%) and fundus autofluorescence (44.86%). The retinal nerve fibre layer thickness was significantly thicker in true optic disc swelling compared to pseudopapilloedema (p < 0.01). Twenty-two (33.33%) true optic disc swelling patients and 33 (9.59%) pseudopapilloedema patients underwent neuroimaging prior to ophthalmology review. CONCLUSIONS: Suspected optic disc swelling in children is most likely pseudopapilloedema. Referrals should include neurological assessment, visual acuity, fundus photography, and optical coherence tomography to assist in the triage for ophthalmic review. Neuroimaging prior to ophthalmic review should be discouraged for children without neurological symptoms.