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)

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.

Concomitant optic disk drusen and papilledema due to idiopathic intracranial hypertension in a pediatric cohort.

BACKGROUND: Optic disk drusen (ODD) in pediatric patients typically presents with pseudopapilledema. Diagnosing concomitant papilledema due to idiopathic intracranial hypertension (IIH) in these patients can be challenging. The purpose of this study was to evaluate the incidence and clinical features of papilledema due to IIH among pediatric patients with a new diagnosis of ODD and to discuss the clinical and paraclinical findings that helped diagnose this group. METHODS: The medical records of children <15 years of age with ODD confirmed by B-scan ultrasound at their first visit over a 4-year period (2019-2022) were reviewed retrospectively. Patients with concurrent IIH were identified, and the demographic and clinical characteristics were reviewed. RESULTS: A total of 83 children with confirmed ODD at the initial presentation were included, of whom 4 (4.8%) were diagnosed with concomitant IIH. Patients ranged in age from 7 to 15 years; 3 of the 4 were female, and 3 had IIH-related symptoms at presentation (1 was asymptomatic). None of the 4 patients had papilledema greater than Frisen grade 2. CONCLUSIONS: We recommend that clinicians review pertinent IIH symptoms and risk factors in children with ODD and follow the standard workup for IIH in suspicious cases. In asymptomatic patients with a new diagnosis of ODD, we recommend obtaining a follow-up optic nerve evaluation and optical coherence tomography scan to detect any significant interval change that might serve as a possible indicator of concomitant papilledema.

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.

Understanding pseudopapilledema on spectral domain optical coherence tomography.

Purpose: Optic nerve head drusen (ONHD), peripapillary hyperreflective ovoid mass-like structures (PHOMS), and horizontal hyperreflective lines (HHL) are commonly seen in eyes with pseudopapilledema on enhanced depth imaging (EDI) spectral domain optical coherence tomography (SDOCT). The objective of this study is to assess the frequency of ONHD, PHOMS, and HHL on spectral domain OCT in the eyes diagnosed to have pseudopapilledema. Methods: A retrospective case-control study included patients diagnosed as pseudopapilledema and had EDI SD OCT imaging of the optic nerve head (n = 48 eyes) and controls (n = 20 eyes). OCT scans through the optic nerve head were studied to diagnose ONHD, HHL, and PHOMS. One proportion z test was used to find the difference in proportions. Results: Forty eight eyes of 27 subjects were studied. ONHD as described by the optic disc drusen Studies consortium was noted in 19 eyes (39.48%), P value-0.032, PHOMS in 31 eyes (64.6%), P value 0.043, HL in 19 eyes (39.48%), P value 0.032, and none of the normals had ONHD, PHOMS, and HHL. Conclusions: PHOMS are more frequently seen than ONHD and HHL in eyes with pseudopapilledema.

Radial peripapillary capillary network in optic disc anomalies with abnormal tissues on disc surface.

Background: Optic disc anomalies with abnormal tissue on the disc surface includes, myelinated nerve fiber, optic disc drusen, and Bergmeister papillae. Imaging the radial peripapillary capillary (RPC) network in optic disc anomalies with optical coherence tomography-angiography (OCTA) can give information on the RPC network in these conditions. Purpose: This video describes the OCTA of optic nerve head and RPC network using the angio disc mode in cases of optic disc anomalies with abnormal tissue on the disc surface. Synopsis: This video presents characteristic features of RPC network in one eye each of myelinated nerve fiber, optic disc drusen, and Bergmeister papillae. Highlights: OCTA in optic disc anomalies with abnormal tissue on the disc surface show a dense RPC microvascular network. OCTA is an effective imaging modality to study vascular plexus/RPC and their alteration in these disc anomalies. Video link: https://youtu.be/zlflgijy56c.

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.

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.

The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders.

Inherited retinal dystrophies (IRDs) as well as genetically complex retinal phenotypes represent a heterogenous group of ocular diseases, both on account of their phenotypic and genotypic characteristics. Therefore, overlaps in clinical features often complicate or even impede their correct clinical diagnosis. Deciphering the molecular basis of retinal diseases has not only aided in their disease classification but also helped in our understanding of how different molecular pathologies may share common pathomechanisms. In particular, these relate to dysregulation of two key processes that contribute to cellular integrity, namely extracellular matrix (ECM) homeostasis and inflammation. Pathological changes in the ECM of Bruch's membrane have been described in both monogenic IRDs, such as Sorsby fundus dystrophy (SFD) and Doyne honeycomb retinal dystrophy (DHRD), as well as in the genetically complex age-related macular degeneration (AMD) or diabetic retinopathy (DR). Additionally, complement system dysfunction and distorted immune regulation may also represent a common connection between some IRDs and complex retinal degenerations. Through highlighting such overlaps in molecular pathology, this review aims to illuminate how inflammatory processes and ECM homeostasis are linked in the healthy retina and how their interplay may be disturbed in aging as well as in disease.

Influence of Patient Age and Presence of Optic Disc Drusen on Fluctuations in Retinal Nerve Fiber Layer Thickness.

BACKGROUND: It is generally believed that optic disc drusen (ODD) change only over long periods of time. Because, in our experience, this does not apply to younger patients, we investigated the natural course of changes of the peripapillary retinal nerve fiber layer (RNFL) in patients with ODD. METHODS: In this retrospective study, 40 eyes with and 40 eyes without ODD were examined, both cohorts were equally subdivided into younger subjects (20 years or younger) and older subjects (21 years or older). Three optical coherence tomography (OCT) scans of the peripapillary RNFL that had an interval of at least 1 month were required for each patient to be included in this study. The largest difference in total RNFL thickness (delta RNFL-t) and in RNFL thickness of the most differing sector (delta RNFL max) measured by OCT was compared. RESULTS: The differences in total RNFL thickness and in the most differing RNFL sector in the group of patients with ODD younger than 21 years were significantly larger than in each of the other 3 groups ( P = 0.0001). The other 3 groups did not differ significantly. CONCLUSIONS: Patients with ODD younger than 21 years have distinct variations in peripapillary RNFL thickness without evidence of increased intracranial pressure. In the absence of further pathological findings or neurological symptoms, an observational approach seems adequate in these patients.

Rates of Visual Field Change in Eyes With Optic Disc Drusen.

BACKGROUND: Optic disc drusen (ODD) are calcified deposits in the prelaminar portion of the optic nerve head. Although often asymptomatic, these deposits can cause progressive visual field defects and vision loss. The purpose of this study was to evaluate rates of functional loss in eyes with ODD and to investigate risk factors associated with rates of visual field progression. METHODS: This was a retrospective cohort study including 65 eyes of 43 patients with ODD from the Duke Ophthalmic Registry. All eyes had at least 12 months of follow-up and at least 3 reliable standard automated perimetry (SAP) tests. Linear mixed models were used to estimate rates of SAP mean deviation (MD) loss over time. Univariable and multivariable models were used to assess the effect of clinical variables and intraocular pressure (IOP) on rates of change. RESULTS: Subjects were followed for an average of 7.6 ± 5.3 years. The mean rate of SAP MD change was -0.23 ± 0.26 dB/year, ranging from -1.19 to 0.13 dB/year. Fifty-seven eyes (87.7%) had slow progression (slower than -0.5 dB/year), 6 eyes (9.2%) had moderate progression (between -0.5 dB/year and -1 dB/year), and 2 eyes (3.1%) had fast progression (faster than -1 dB/year). In multivariable models, older age and worse SAP MD at baseline were significantly associated with faster rates of change. Mean IOP was not associated with faster rates of MD change in both univariable and multivariable analyses. CONCLUSIONS: Most eyes with ODD had slow rates of visual field loss over time. Age and baseline severity were significantly associated with faster rates of visual field loss.

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.

The visual morbidity of optic nerve head drusen: a longitudinal review.

BACKGROUND: The ophthalmologic complications of optic nerve head drusen (ONHD) in adults have been documented, whereas data on the degree of visual morbidity from OHND in children are limited. METHODS: The medical records of all patients diagnosed with ONHD at a single, tertiary care ophthalmology department from January 1, 2010, until July 1, 2018, were reviewed retrospectively. Patients were identified using ICD-9 and ICD-10 codes. Inclusion criteria were age ≤18 years of age and formal documentation of ONHD by ancillary testing. RESULTS: A total of 213 patients (386 eyes with ONHD) met inclusion criteria. Mean age at diagnosis was 10.13 ± 4.09 years, and mean follow-up was 2.76 ± 2.91 years. Formal visual fields were available for 208 eyes. Repeatable visual field defects were noted in 24 eyes (11.5%). The most common defect was a nasal step, which occurred in 11 eyes (45.8%). Fifteen eyes had visual field defects at presentation, and 9 eyes developed field loss within 1.39 ± 0.55 years of diagnosis. There was no correlation found between intraocular pressure and degree of visual field loss. Choroidal neovascular membranes were clinically apparent in 5 eyes and treatment was required in 3 eyes. Nonarteritic ischemic optic neuropathy developed in 2 eyes. CONCLUSIONS: Visual morbidity associated with ONHD in children is common and may develop in a short period of time after initial diagnosis. There was no correlation found with intraocular pressure.

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.