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.

Discriminating Between Papilledema and Optic Disc Drusen Using 3D Structural Analysis of the Optic Nerve Head.

BACKGROUND AND OBJECTIVES: The distinction of papilledema from other optic nerve head (ONH) lesions mimicking papilledema, such as optic disc drusen (ODD), can be difficult in clinical practice. We aimed the following: (1) to develop a deep learning algorithm to automatically identify major structures of the ONH in 3-dimensional (3D) optical coherence tomography (OCT) scans and (2) to exploit such information to robustly differentiate among ODD, papilledema, and healthy ONHs. METHODS: This was a cross-sectional comparative study of patients from 3 sites (Singapore, Denmark, and Australia) with confirmed ODD, those with papilledema due to raised intracranial pressure, and healthy controls. Raster scans of the ONH were acquired using OCT imaging and then processed to improve deep-tissue visibility. First, a deep learning algorithm was developed to identify major ONH tissues and ODD regions. The performance of our algorithm was assessed using the Dice coefficient. Second, a classification algorithm (random forest) was designed to perform 3-class classifications (1: ODD, 2: papilledema, and 3: healthy ONHs) strictly from their drusen and prelamina swelling scores (calculated from the segmentations). To assess performance, we reported the area under the receiver operating characteristic curve for each class. RESULTS: A total of 241 patients (256 imaged ONHs, including 105 ODD, 51 papilledema, and 100 healthy ONHs) were retrospectively included in this study. Using OCT images of the ONH, our segmentation algorithm was able to isolate neural and connective tissues and ODD regions/conglomerates whenever present. This was confirmed by an averaged Dice coefficient of 0.93 ± 0.03 on the test set, corresponding to good segmentation performance. Classification was achieved with high AUCs, that is, 0.99 ± 0.001 for the detection of ODD, 0.99 ± 0.005 for the detection of papilledema, and 0.98 ± 0.01 for the detection of healthy ONHs. DISCUSSION: Our artificial intelligence approach can discriminate ODD from papilledema, strictly using a single OCT scan of the ONH. Our classification performance was very good in the studied population, with the caveat that validation in a much larger population is warranted. Our approach may have the potential to establish OCT imaging as one of the mainstays of diagnostic imaging for ONH disorders in neuro-ophthalmology, in addition to fundus photography.

A Comparison of Diagnostic Accuracy of Imaging Modalities to Detect Optic Disc Drusen: The Age of Enhanced Depth Imaging Optical Coherence Tomography.

PURPOSE: To identify the most accurate diagnostic imaging modality to detect optic disc drusen (ODD) between B-scan ultrasonography (US), fundus photography, fundus autofluorescence (FAF), and enhanced depth imaging optical coherence tomography (EDI-OCT). DESIGN: Comparative diagnostic analysis. METHODS: Two hundred five eyes of 105 patients referred to 2 tertiary care neuro-ophthalmology clinics for suspected ODD were recruited: 108 eyes had ODD and 97 did not have ODD. All eyes received a full in-person ophthalmic exam with 3D view of the optic nerve and all 4 imaging modalities. Images were independently reviewed by 3 masked neuro-ophthalmologists to determine the presence or absence of ODD. Final interpretation was made through consensus. The reference standard was defined as the attending ophthalmologist's clinical judgement based on open chart review, with access to all image modalities and clinical information, including disease course. Main outcome measures were sensitivity, specificity, accuracy, and precision for each imaging modality. Examiner confidence was quantified as the proportion of eyes in which the reviewers were certain of their decision. RESULTS: The EDI-OCT had the highest sensitivity and accuracy (95%, 97%) to detect ODD, compared with FAF (84%, 92%), US (74%, 86%), and fundus photography (38%, 66%), respectively. All image modalities had high specificity (> 97%) and precision (> 93%). The EDI-OCT also had highest examiner confidence (96%) compared with all others (88%). CONCLUSIONS: Among all modalities, EDI-OCT was the imaging modality with the highest diagnostic utility for the detection of ODD and should be considered as the preferred initial diagnostic modality.

Detection of superficial and buried optic disc drusen with swept-source optical coherence tomography.

BACKGROUND: To detect the superficial and buried optic disc drusen (ODD) with swept-source optical coherence tomography (SS-OCT). METHODS: Retrospective cross-sectional study. Twenty patients (age 18-74 years) diagnosed with ODD via B-scan ultrasonography were analysed. All patients underwent color fundus photography (CFP), B-scan ultrasonography, fundus autofluorescence (FAF), and SS-OCT. We defined each hyporeflective signal mass of SS-OCT as an ODD, recorded its location and relationship with Bruch's membrane opening (BMO), and other ophthalmic imaging characteristics. RESULTS: Twenty (33 eyes) patients had 54 ODDs in all, except one eye did not show abnormal optic disc findings on SS-OCT. We classified ODD into three categories: ODD above BMO, ODD across BMO, and ODD below BMO. The ODDs across BMO were the largest, followed by ODDs below BMO, and those above BMO. The location of the ODDs: One (1.9%) was in the border tissue of Elschnig, 6 (11.1%) might span across the lamina cribrosa, 16 (29.6%) were above BMO located in the neuroepithelial layer, 9 (16.7%) spanned across BMO located near the center of the optic disc, 18 (33.3%) were below BMO located near the center of the optic disc, 4 (7.4%) were below BMO located within the optic disc rim. When the anterior margin was ≥ 100 µm from the BMO, clear autofluorescence could be seen. CONCLUSION: Multimodal imaging provided a deeper understanding of ODD. SS-OCT illustrated more details about the relationship between the posterior surface of ODD, BMO and the lamina cribrosa.

Multicolor Imaging of Optic Disc Drusen.

ABSTRACT: Optic disc drusen (ODD) are calcified deposits at the anterior optic nerve that are often detectable by ophthalmic imaging, including optical coherence tomography and fundus autofluorescence imaging. Multicolor (MC) imaging is a novel modality that captures reflectance of blue, green, and near-infrared laser lights with confocal scanning laser ophthalmoscopy to rapidly acquire high-resolution reflectance images of the optic disc and retina. Here, we show an eye with 3 MC imaging features of ODD, including prominent green hyperreflectance of the optic disc, green sheathing of the papillary and peripapillary vasculature (arterioles > venules), and presence of orange superficial ODD. MC imaging can provide rapid high-resolution assessment of eyes with optic nerve head elevation to help distinguish pseudopapilledema vs papilledema in children and adults without dilation, and future large studies incorporating MC imaging will help determine its contribution in the diagnosis and monitoring of ODD and assessment of other causes of optic nerve head elevation.

Iridochorioretinal coloboma associated with buried optic nerve drusen: a case report.

Improper closure of the embryonic fissure results in ocular coloboma. Optic nerve head drusen are hyaline deposits located anterior to the lamina cribosa that grow and calcify over time. It is rarely associated with ocular coloboma, with only two cases reported. We present a patient with an irido-chorioretinal coloboma, poorly defined optic nerve limits in the right eye, and increased papillary vascular ramification and peripapillary atrophy in the left eye, without any visible drusen. Fundus autofluorescence, high-resolution optical coherence tomography, and B-scan ultrasonography confirmed the diagnosis of bilateral buried optic nerve head drusen. The association between irido-chorioretinal colobomas and optic nerve drusen in the absence of a systemic disease is exceptional. Our case demonstrates that multimodal imaging is important to correctly diagnose buried optic nerve head drusen.

Coexistencia de hipertensión intracraneal idiopática y drusas del nervio óptico en una paciente latinoamericana: reporte de caso / Coexistence of idiopathic intracranial hypertension and optic disc drusen in a latin american patient: case report

Las drusas del nervio óptico son concreciones acelulares de calcio localizadas en el parénquima de la cabeza del nervio óptico, descritas como la causa más frecuente de pseudopapiledema, lo cual las hace difícil de diferenciar de un verdadero edema del disco óptico. A pesar de su poca frecuencia, las drusas del nervio óptico y el papiledema secundario a una hipertensión intracraneal idiopática pueden coexistir en el mismo paciente. Reportamos el caso de una mujer de 34 años de vida remitida al servicio de oftalmología con molestias visuales, cefalea, y tinnitus pulsátil de dos meses de evolución; al examen físico se encontró borramiento del margen del disco óptico de manera bilateral sin pulsación venosa espontánea. El diagnóstico de hipertensión intracraneal idiopática se realizó por una punción lumbar con medición de la presión de apertura, y por los hallazgos de resonancia magnética cerebral y de órbitas. Se observó incidentalmente las drusas del nervio óptico en una tomografía de coherencia óptica con angiografía, que luego se confirmarían con una ecografía ocular. Este es el primer caso reportado en América Latina de la coexistencia de drusas del nervio óptico y papiledema secundario a hipertensión intracraneal idiopática para nuestro conocimiento (AU)

Optic nerve drusen are acellular concretions of calcium located in the parenchyma of the optic nerve head described as the most common cause of pseudo-papilloedema, which makes it difficult to differentiate from a true optical disc oedema. Despite it being rare optic nerve drusen and the papilloedema secondary to idiopathic intracranial hypertension can coexist in the same patient. We present a case of a 34-year-old woman referred to the Ophthalmology Department with visual discomfort, headaches, and pulsatile tinnitus of two months onset. In the physical examination there was bilateral blurring of the optic disc margin with absence of spontaneous venous pulsation. The diagnosis of idiopathic intracranial hypertension was made by lumbar puncture with the measurement of the opening pressure, and due to the findings of the magnetic resonance scan of the brain and orbits. The optic nerve drusen was an incidental finding in an optical coherence tomography angiography, which would later be confirmed with an eye ultrasound. To our knowledge, this the first case reported in Latin America of the coexistence of optic nerve drusen and papilloedema secondary to idiopathic intracranial hypertension (AU)

DIAGNOSTICS OF OPTIC DISC DRUSEN IN CHILDREN WITH SWEPT SOURCE OCT IMAGING.

AIM: The aim of this retrospective study is to compare two methods of optic disc drusen imaging in pediatric patients - new swept source OCT technology with the B-scan ultrasonography, which has been assumed to be a gold standard in diagnosing optic disc drusen, and to compare pRNFL thickness in children with optic disc drusen and control group. METHODS: 14 eyes of 8 pediatric patients in whom optic disc drusen were confirmed by either B-scan ultrasonography, or swept-source OCT, were included in the study. We compared the sensitivity of these two imaging methods. Then we compared an average pRNFL thickness and pRNFL thickness in all four quadrants of our study group with the control group. Two statistical methods were used in data analysis - Mann-Whitney a Kruskal-Wallis test. RESULTS: The difference between SS-OCT and B-scan ultrasonography was not statistically significant in diagnosing optic disc drusen. Average pRNFL thickness was 135.29 ± SD 31.2 μm in eyes with optic disc drusen, which is 24.15 % higher than in control group (p = 0.00214; p = 0.00207). pRNFL thickness of temporal (p = 0.0001; p = 0.0001), superior (p = 0.03486; p = 0.03361) and inferior (p = 0.00652; p = 0.00627) quadrant was statistically significantly higher in comparison with healthy controls, whereas the difference of pRNFL thickness in nasal quadrant was not statistically significant between the study and control group (p = 0.09692; p = 0.0947). CONCLUSION: Swept source OCT is a promising new "gold standard" in optic disc drusen diagnostics in pediatric patients. An increase in pRNFL thickness values does not always confirm papilloedema as optic disc drusen may be the cause. Direct visualisation of optic disc drusen by swept source OCT can aid in differentiation from true papilloedema.

Utility of pattern recognition and multimodal imaging in the diagnosis and management of doyne honeycomb retinal dystrophy complicated with type one choroidal neovascular membrane.

A 44-year-old woman presented with decreased vision in both eyes. The retina in both eyes had drusen distributed along vascular arcades, central macula and in peripapillary region. Macula had pigmented scarring and exudation. Fundus autofluorescence showed drusen. Optical coherence tomography showed drusen, subretinal and intraretinal fluid. Fundus fluorescein and indocyanine green angiography showed drusen, retinal pigment epithelial atrophy and vascular network. Younger age at presentation, bilateral symmetry, typical distribution of drusen along the arcades in a radiating pattern, peripapillary involvement, scarring and atrophy at macula were suggestive of doyne honeycomb retinal dystrophy. The reduced vision was due to macular atrophy and an active choroidal neovascular membrane. The patient was treated with antivascular endothelial growth factor injections for choroidal neovascular membrane. Our case highlights the importance of pattern recognition and multimodal imaging for diagnosing the type of macular dystrophy as doyne honeycomb retinal dystrophy, while simultaneously managing choroidal neovascular membrane.

Diagnosis of optic nerve head drusen using enhanced depth imaging optical coherence tomography.

PURPOSE: To evaluate the efficacy of Enhanced Depth Imaging Optical Coherence Tomography (EDI-OCT) in differentiating between optic nerve head drusen (ONHD) and optic disc oedema (ODE). METHODS: This was a cross-sectional study of 140 patients: 83 patients with ONHD (49 hidden and 34 visible), 20 patients with pseudopapilloedema (without drusen), and 37 patients with ODE. EDI-OCT of the optic nerve was performed, selecting one high-resolution line from the HD 5-line raster protocol. Two observers blindly evaluated the presence of a hyporeflective core surrounded by a hyperreflective margin or border. The sensitivity, specificity, predictive values and posttest probability were evaluated as well as the inter-observer agreement (k). RESULTS: EDI-OCT demonstrated a sensitivity of 92% (95% CI: 83%-96%), a specificity of 96% (95% CI: 87%-99%), with a positive predictive value of 97% and a negative predictive value of 89%. The inter-observer agreement was as remarkable as k = 0.8985 (95% CI 0.8252-0.9718). A positive EDI OCT increases the posttest probability to 97% (95% CI: 91%-99%); when negative, the posttest probability is reduced to 12% (95% CI: 6%-21%). CONCLUSION: EDI-OCT allowed for differentiation between ONHD and ODE with high sensitivity and specificity.

Multimodal Imaging Features of Optic Disc Drusen.

PURPOSE: To identify key en face multimodal imaging features of optic disc drusen (ODD). DESIGN: Retrospective cross-sectional study. METHODS: Setting: a single academic center. Patient orStudyPopulation: 786 patients (10-82 years of age) with diagnostic codes for optic disc drusen (ODD) in clinical notes extracted using natural language processing. Intervention orObservationProcedures: color fundus imaging, green-light and blue-light fundus autofluorescence (FAF), near-infrared reflectance (NIR), and enhanced-depth imaging optical coherence tomography (EDI-OCT). MainOutcomeMeasurements: Ophthalmic imaging characteristics and sensitivity of en face imaging compared with EDI-OCT. RESULTS: A total of 38 patients (61 eyes) had high-quality EDI-OCT scans and en face multimodal imaging. Green-light FAF imaging had the highest diagnostic sensitivity (96.8%) for ODD and showed homogeneous hyperautofluorescence, whereas blue-light FAF imaging had heterogeneous brightness, which helped differentiate superficial from deep ODD. Blue-light FAF (93.5%) and NIR (91.8%) imaging were also sensitive tests and revealed papillary and peripapillary features that were not well seen on green-light FAF, including the size and depth of ODD, morphology of the optic disc, and common ODD-associated structures such as horizontal hyper-reflective lines and peripapillary hyper-reflective ovoid mass-like structures (PHOMS). Color fundus imaging had the lowest sensitivity (82%). There was good inter-rater reliability for all en face imaging modalities (P < .0001 for all). CONCLUSIONS: In en face imaging, green-light FAF had the highest sensitivity for the diagnosis of ODD, whereas blue-light FAF and NIR images provided more information regarding the severity, location, depth, and size of ODD. In eyes that are negative on green-light FAF, EDI-OCT should be performed and provides the highest-resolution characterization of the entire optic disc to assess or rule out ODD.

Peripapillary hyperreflective ovoid mass-like structures-a novel entity as frequent cause of pseudopapilloedema in children.

BACKGROUND: Optic nerve head drusen (ONHD) are considered the most common cause for pseudopapilloedema in children. We aimed to investigate and further characterize a new type of optic nerve head lesion on enhanced depth imaging optical coherence tomography (EDI-OCT) named peripapillary hyperreflective ovoid mass-like structures (PHOMS), and ONHD in asymptomatic children with pseudopapilloedema. METHODS: Retrospective cohort study including 64 eyes from 32 patients with pseudopapilloedema due to PHOMS and/or ONHD. Mean age was 9.0 ± 3.1 years. PHOMS and ONHD were identified and classified on EDI-OCT and infrared images. Ultrasound images were classified for the presence of hyperechogenic structures of the optic nerve head. RESULTS: On EDI-OCT, PHOMS were detected in 63 out of 64 eyes (98.4%). In 60 eyes (93.8%), small hyperreflective foci inside the PHOMS were present. In all cases, we identified a new ring sign visible on infrared images, corresponding clearly to the edge of the PHOMS as seen on EDI-OCT. On ultrasound, we describe a new feature of PHOMS appearing as small hyperechogenic structures without posterior shadowing. In 13 eyes (20.3%), ONHD were present on EDI-OCT and ultrasound. CONCLUSION: This is the first study showing that PHOMS are the most common cause for pseudopapilloedema in children. PHOMS is a new entity of optic nerve head lesions. It might be a precursor of buried optic nerve head drusen, which can lead to visual field defects, haemorrhages and CNV. This study offers new tools to identify and follow-up these lesions early in childhood using EDI-OCT.