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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., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

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., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

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.

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., Competing Interests: The authors report no conflicts of interest., (Copyright © 2022 by North American Neuro-Ophthalmology Society.)

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., Competing Interests: T. Estrela, A. A. Jammal, and M. El-Dairi have no conflicts of interest to report. F. A. Medeiros reports the following: Aerie Pharmaceuticals, Allergan, Annexon, Biogen, Carl Zeiss Meditec, Galimedix, Google Inc., Heidelberg Engineering, nGoggle Inc., Novartis, Stealth Biotherapeutics, Reichert, Genentech, Stuart Therapeutics., (Copyright © 2023 by North American Neuro-Ophthalmology Society.)

Purpose: To describe two cases of severe acute bilateral optic disc edema that occurred in patients with diabetes mellitus shortly after the initiation of intensified antihyperglycemic therapy., Methods: Retrospective observational case report., Case Description: Two patients with type 1 diabetes presented for routine retinopathy screening with asymptomatic optic disc edema. One case was bilateral, the other unilateral. Neither patient had visual complaints. Both patients' glycemia history was characterized by a recent bout of poor regulation and both had optic disc edema consistent with diabetic papillopathy in combination with prominent Optic disc drusen (ODD). The swelling that appeared to constitute the edematous diabetes-related component of the disease resolved within 10-12 weeks during which diabetes therapy was optimized. Visual field deficits were seen early on in both patients and had resolved to some extent in one patient after 9 months but persisted in the one affected eye in the other patient up to at least 30 months., Conclusion: Two cases of ODD-associated diabetic papillopathy were observed: One with classic, bilateral disc edema and minor visual field defects, the other with unilateral disc edema, severe visual field defects and a phenotype that resembled non-arteritic anterior ischemic optic neuropathy. The cases suggest that ODD may increase the risk of diabetic papillopathy, a condition that is associated with rapid glycemia reduction and crowded optic discs, which may combine to produce nerve fiber swelling and hypoperfusion with venous congestion in a compartment with limited room for expansion.

Background/aims: To determine the association of age, presence of optic nerve head drusen (ONHD) and number of previous intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections with inner retinal layer thicknesses in patients with pseudoxanthoma elasticum (PXE)., Methods: In this retrospective case-control study, longitudinal spectral-domain optical coherence tomography imaging data from patients with PXE were compared with controls. A custom deep-learning-based segmentation algorithm was trained and validated to quantify the retinal nerve fibre layer (RNFL) and ganglion cell layer (GCL). The association of age, number of anti-VEGF injections and ONHD with the RNFL and GCL thickness in the outer ETDRS subfields as dependent variables was investigated using mixed model regression., Results: Fourty-eight eyes of 30 patients with PXE were compared with 100 healthy eyes. The mean age was 52.5±12.9 years (range 21.3-68.2) for patients and 54.2±18.7 years (range 18.0-84.5) for controls. In patients, ONHD were visible in 15 eyes from 13 patients and 31 eyes had received anti-VEGF injections. In the multivariable analysis, age (-0.10 µm/year, p<0.001), the diagnosis of PXE (-2.03 µm, p=0.005) and an interaction term between age and the presence of ONHD (-0.20 µm/year, p=0.001) were significantly associated with the GCL thickness. Including the number of intravitreal injections did not improve the model fit. The RNFL thickness was not significantly associated with any of these parameters., Conclusions: This study demonstrates a significant association of ageing and ONHD with GCL thinning in patients with PXE, but not with the number of anti-VEGF injections. Given the severity of inner retinal degeneration in PXE, a clinical trial investigating neuroprotective therapy warrants consideration., Competing Interests: Competing interests: The Department of Ophthalmology, University of Bonn, received technical support from Heidelberg Engineering, Heidelberg, Germany and Carl Zeiss Meditec, Jena, Germany (KH, KR, PH, FGH, MP)., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Membrane frizzled-related protein (MFRP) plays a critical role in ocular development. MFRP mutations are known to cause nanophthalmos and, in some cases, retinitis pigmentosa, foveoschisis, and/or optic nerve head (ONH) drusen. The broad clinical spectrum of MFRP mutations necessitates further investigation of specific genotype-phenotype relationships., Materials and Methods: We reviewed ophthalmologic and genetic medical records of two affected siblings and one unaffected sibling., Results: Genetic testing revealed variants MFRP c.855T>A, p.(Cys285*) and MFRP c.1235T>C, p.(Leu412Pro) in trans in the two affected siblings. In both cases, photopic and scotopic responses were markedly reduced on electroretinogram (ERG), with greater decrease in scotopic function. Optical coherence tomography for both siblings revealed non-cystoid thickening. Blunted foveal reflexes were also observed in both siblings. Notably, foveal avascular zone abnormalities were seen on fundus autofluorescence in only one affected sibling., Conclusions: MFRP-related ocular disease may be underrecognized due to its presentation with high hyperopia and possibly subtle retinal findings. Presence of variants MFRP c.855T>A, p.(Cys285*) and MFRP c.1235T>C, p.(Leu412Pro) in trans resulted in nanophthalmos and retinitis pigmentosa without associated foveoschisis or ONH drusen in our patients, consistent with the incomplete phenotype previously described in Neri et al. Abnormalities in the foveal avascular zone have been noted in other case studies and were inconsistently associated with the variants described here, representing a potential area for future investigation.

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., (Copyright © 2023 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are a laterally bulging herniation of distended axons into the peripapillary region above the level of Bruch's membrane opening. Increased use of enhanced depth imaging-optical coherence tomography (EDI-OCT) in our evaluation of the optic nerve head (ONH) and greater recognition of the vast range of optic nerve pathologies with which PHOMS is associated provides convincing evidence that PHOMS is not just buried optic disc drusen (ODD) as previously described. The frequent coexistence of PHOMS with ODD, papilloedema, anterior ischaemic optic neuropathy, tilted optic disc syndrome, inflammatory demyelinating disorders and other diseases associated with axoplasmic stasis provides insight into its underlying pathophysiology. The present review will discuss the role of key imaging modalities in the differential diagnosis of PHOMS, explore the current literature on the relationship between PHOMS and common neuro-ophthalmic conditions, and highlight the gaps in our knowledge, with respect to disease classification and prognosis, to pave the way for future directions of research., (© 2022 The Authors. Clinical & Experimental Ophthalmology published by John Wiley & Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Ophthalmologists.)

Background: The identification of glaucomatous optic neuropathy in the setting of optic disc drusen (ODD) is a challenge, and the decision of whether to offer treatment in the form of intraocular pressure (IOP) reduction is controversial. Here, we present a series of patients with coexisting ocular hypertension and ODD to evaluate clinical features, treatment options, and progression of optic neuropathy. In addition, a review of the literature on ODD with elevated IOP is provided., Methods: Six patients with ODD and a history of ocular hypertension are presented. Components of the examination and imaging modalities used to establish the diagnosis of ODD were recorded and a description of ocular hypertension history, glaucoma testing, and the potential treatment of IOP were also provided., Results: In this series, 4 of 6 patients with concurrent ocular hypertension and ODD showed progression of optic neuropathy as assessed by visual field or retinal nerve fiber layer thickness. Of the 2 patients who did not show evidence of progression, 1 was treated with IOP-lowering medications and 1 was observed off treatment. Of the 4 patients who showed evidence of progression, all 4 were initially treated with IOP-lowering medications and 2 ultimately went on to have trabeculectomy surgery. In the patients with progressive optic neuropathy, lowering the IOP seemed to halt the progression suggesting there was a pressure-sensitive component., Conclusions: Distinguishing changes to the optic nerve, particularly the structural changes at the lamina cribrosa of true glaucomatous optic neuropathy in the setting of ODD, is a challenge. Careful consideration of risk factors including age, presenting features, progression indicators, and management goals is to be accounted for in the decision to offer treatment. We see the presence ODD in the patients with ocular hypertension as an additional risk for progressive changes to the nerve fiber layer and visual field that needs to be considered when determining whether to initiate therapy. Our data suggest that treatment of IOP in the patients with ocular hypertension with ODD and evidence of progression reduces the risk of further progression. Further work is needed to determine whether progression of optic neuropathy in the setting of coexisting ODD and ocular hypertension is related mechanistically to predominantly an ODD-type process, a glaucomatous process, or a combination thereof., Competing Interests: The authors report no conflicts of interest., (Copyright © 2022 by North American Neuro-Ophthalmology Society.)

Competing Interests: Competing interests: None declared.

Purpose of Review: The purpose of this review is to provide an overview of the ophthalmic findings associated with peripapillary hyperreflective ovoid mass-like structures (PHOMS) in both adult and pediatric patients., Recent Findings: PHOMS have recently been identified in a number of different ophthalmic disease entities ranging from nonpathologic to pathologic, including but not limited to anatomic abnormalities (tilting in myopia), optic nerve head drusen, optic disc edema from inflammation (optic neuritis, white dot syndromes), vascular insults (ischemic optic neuropathy, retinal vascular occlusion), and papilledema. The mechanism underlying the formation of PHOMS has not been fully elucidated although it has been hypothesized that PHOMS occur secondary to axoplasmic stasis from crowding at the optic nerve head., Summary: Although the clinical significance of the presence of PHOMS remains unclear, PHOMS are associated with several disease processes. Understanding the mechanism behind their formation and their impact on optic nerve head structure and visual function may be relevant in patients with optic nerve head pathology. The presence of PHOMS may also correlate with disease severity and duration. Future studies to evaluate whether the formation of PHOMS may be useful as an early indicator of disease or a prognostic tool are warranted., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: Optic disc drusen (ODD) is an anatomical risk factor for nonarteritic anterior ischemic optic neuropathy (NA-AION). This study aimed to investigate the anatomical and vascular risk factors of patients with ODD-AION (ODD-associated NA-AION) and compare them with similar data from patients with nODD-AION (NA-AION without ODD)., Design: Case-control study., Methods: Thirty-four ODD-AION and 34 nODD-AION patients who had all been systematically optical coherence tomography scanned using a standardized ODD scanning protocol were retrospectively analyzed and compared regarding demographics, vascular risk factors, clinical characteristics, and specific optic nerve head anatomical characteristics., Results: In patients with ODD-AION, the ODD were predominantly deeply located (82%) but with no significant difference in size (52% large, 48% small). When compared with nODD-AION patients, ODD-AION patients were significantly younger at the time of diagnosis (P = .012) and had fewer vascular risk factors (P = .015). The ODD-AION patients had significantly more peripapillary hyperreflective ovoid mass-like structures (PHOMS) (P < .001) and prelaminar hyperreflective lines (P < .001) as well as smaller Bruch's membrane opening diameters (P = .017) compared with nODD-AION patients. No significant differences were found between ODD-AION and nODD-AION patients regarding visual acuity, refraction, lamina cribrosa position, ganglion cell layer volume, or retinal nerve fiber layer thickness., Conclusion: In ODD-AION, location of the ODD within the optic nerve head is important, while the size of the ODD is not. The ODD-AION and nODD-AION patients presented with distinctly different vascular risk factors and anatomical characteristics, establishing ODD and potentially also PHOMS as independent risk factors for developing NA-AION., (Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)

We report a case of bilateral optic nerve head drusen complicated by choroidal neovascularization (CNV) in the left eye at presentation. The presence of optic disc and macular edema in addition to exudation led to the misdiagnosis of neuroretinitis at an outside medical center. Swept-source optical coherence tomography (SS-OCT) and SSOCT angiography were critical in establishing the diagnosis and follow-up in a noninvasive manner. Secondary CNV associated with optic nerve head drusen responded well to intravitreal injections of anti-vascular endothelial growth factor in the left eye. Asymptomatic nonexudative CNV that developed in the right eye during follow-up regressed spontaneously without treatment. [ Ophthalmic Surg Lasers Imaging Retina 2022;53:518-521.] .

Abstract: A 55-year-old Caucasian man presented to the neuro-ophthalmology department for follow-up evaluation due to long-standing bilateral optic nerve head drusen (ONHD). On examination, the BCVA was 20/20-2 in both eyes. Dilated fundus examination revealed extensive ONHD in both eyes, retinal hemorrhages, exudates inferonasal to the macula, and macular edema inferotemporal to the disc margin. Automated visual field testing revealed generalized depression in both eyes. Late phase leakage was observed on fluorescein angiography (FA). Optical coherence tomography angiography identified a small juxtapapillary choroidal neovascular membrane inferonasal to the macula in the right eye correlating with the area of retinal hemorrhage and exudates., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by North American Neuro-Ophthalmology Society.)

Background: Optic disc drusen (ODD) are a dynamic phenomenon, and their appearance, size, and relative location may change. The purpose of this study is to evaluate and quantify the longitudinal changes of buried ODD with enhanced depth imaging (EDI) optical coherence tomography (OCT) over time., Methods: ODD were analyzed with Spectralis OCT (Heidelberg Engineering, Heidelberg, Germany) and EDI technology. The peripapillary retinal nerve fiber layer (RNFL) thickness was also measured. The size and depth of ODD were compared between the baseline and study visit (at least 2 years of follow-up), and the changes were correlated with mean RNFL thickness. The repeatability, coefficient of variation, and cutoff values for size and depth on EDI-OCT were calculated., Results: Of 21 previously identified patients with ODD, only 12 patients (21 eyes) met the most recent diagnostic criteria according to the ODD Studies Consortium recommendations for using OCT-EDI technology. The 21 eyes were reanalyzed after a mean period of 44.7 ± 13.2 months (range: 24-71 months). Overall, 132 ODD were evaluated with a mean of 6.1 ± 2.5 ODD per eye and 1.9 ± 1.1 ODD per scan. Overall, we found a significant forward movement of the drusen between visits (P = 0.01). Most drusen (67.4%) moved anteriorly, and in approximately one-third (35.6%), this displacement exceeded the cutoff value (64.28 µm). Furthermore, we found a significant correlation between ODD shallowing and RNFL thinning during the follow-up (P ≤ 0.03; R ≥ 0.370). We did not find any significant changes in size measurements (P = 0.10) over time., Conclusions: In approximately one-third of buried ODD, a significant anterior movement occurred over 2 years of follow-up, and this movement was associated with significant RNFL thinning. By contrast, no significant change was detected in the size of the buried ODD., Competing Interests: The authors report no conflicts of interest., (Copyright © 2020 by North American Neuro-Ophthalmology Society.)

Background: With the development and widespread adoption of spectral-domain optical coherence tomography (OCT), peripapillary hyper-reflective ovoid mass-like structures (PHOMS) have become a frequent OCT finding in neuro-ophthalmic practice. Although originally assumed to represent a form of buried optic disc drusen (ODD), PHOMS differ from ODD in many important ways. The histopathological underpinnings of PHOMS are now becoming more clearly understood., Evidence Acquisition: Review of literature., Results: PHOMS can be broadly classified as disk edema-associated PHOMS, ODD-associated PHOMS, or anomalous disk-associated PHOMS. PHOMS are seen in many conditions, including papilledema, nonarteritic anterior ischemic optic neuropathy, central retinal vein occlusion, acute demyelinating optic neuritis, ODD, and tilted disks (myopic obliquely inserted disks) and in many cases resolve along with the underlying condition. The histopathological study of these diverse entities reveals the common feature of a bulge of optic nerve fibers herniating centrifugally over Bruch membrane opening into the peripapillary space, correlating exactly with the location, shape, and space-occupying nature of PHOMS on OCT. Because of the radial symmetry of these herniating optic nerve fibers, PHOMS are best thought of as a complete or partial torus (i.e., donut) in 3 dimensions., Conclusions: PHOMS are a common but nonspecific OCT marker of axoplasmic stasis in the optic nerve head. They are not themselves ODD or ODD precursors, although they can be seen in association with ODD and a wide spectrum of other conditions. They do not exclude papilledema and often accompany it. The circumferential extent and characteristic 3D toroidal nature of a PHOMS are best appreciated by scrolling through consecutive OCT images., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by North American Neuro-Ophthalmology Society.)

Introduction: Optic Nerve Head Drusen (ONHD) are very rare among black patients but may cause more severe visual defects in these patients. The goal of our study was to describe the frequency of visual field defects secondary to OND in Afro-Caribbean patients and study the characteristics of their physical examination, color vision and contrast sensitivity., Methods: We carried out a prospective study at the Martinique university medical center on patients of African descent with ONHD diagnosed on fundus examination and B-scan ultrasonography. All patients received a complete neuro-ophthalmological examination. The primary study endpoint was the frequency of visual field defects. Secondary study endpoints were the results of ETDRS visual acuity, Pelli-Robson contrast sensitivity chart, and 15 hue color vision test., Results: Sixteen eyes of 10 patients from 11 to 68 years of age were included. Forteen eyes (87%) had exposed ONHD. Eleven eyes (69%) showed a visual field defect: 9 eyes (69%) had an enlarged blind spot, and 9 eyes (69%) had an arcuate scotoma. 3 eyes (19%) had loss of ETDRS visual acuity, and 12 eyes (75%) showed loss of Pelli-Robson contrast sensitivity. Five eyes (31%) had an abnormal color vision test., Conclusion: This is one of the largest case series of ONHD in Black patients. The frequency of visual field defects was high but comparable to that of studies in other ethnic groups. Larger comparative studies are necessary to confirm these results., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Background: To evaluate the retinal nerve fiber layer (RNFL) and peripapillary vascular density (VD) changes in the pediatric group with optic disk drusen (ODD)., Methods: Sixty eyes of 30 patients with buried ODD referred by the pediatric or neurology physicians to ophthalmology clinic with a preliminary diagnosis of papillary edema were included in this retrospective study. Sixty eyes of 30 healthy children were included as the control group. Thickness of RNFL (micrometer) and VD percentages (%) of the superior, inferior, nasal, and temporal quadrants of the peripapillary region of all cases were evaluated with optical coherence tomography angiography (OCT-A) device., Results: The study and control groups were homogeneous in terms of age and gender. VD values were significantly lower in the study group for all four quadrants, when compared to controls (p < 0.001, p < 0.001, p = 0.003, and p < 0.001, for inferior, superior, nasal, and temporal quadrants, respectively. For RFNL thickness measurements, a significant difference between groups was only evident for the nasal quadrant, where the study group had significantly higher nasal RFNL thickness (p = 0.001)., Conclusion: This study detected decreases in peripapillary VD values in all quadrants and peripapillary RNFL thickening in nasal quadrant in pediatric cases with buried drusen compared to healthy controls. Further studies are necessary to reveal the effects of drusen pathogenesis on optic nerve head perfusion and to understand the underlying mechanisms of related complications.

[Ophthalmic Surg Lasers Imaging Retina. 2021;52:110.]., (Copyright 2021, SLACK Incorporated.)

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., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: Optic disc drusen (ODD), present in 2% of the general population, have occasionally been reported in patients with nonarteritic anterior ischemic optic neuropathy (NA-AION). The purpose of this study was to examine the prevalence of ODD in young patients with NA-AION., Design: Retrospective, cross-sectional multicenter study., Methods: All patients with NA-AION 50 years old or younger, seen in neuro-ophthalmology clinics of the international ODDS (Optic Disc Drusen Studies) Consortium between April 1, 2017, and March 31, 2019, were identified. Patients were included if ODD were diagnosed by any method, or if ODD were excluded by enhanced-depth imaging optical coherence tomography (EDI-OCT) using ODDS Consortium guidelines. NA-AION eyes with ODD were termed "ODD-AION"; those without were termed "NODD-AION"., Results: A total of 65 patients (127 eyes) with NA-AION were included (mean 41 years old). Of the 74 eyes with NA-AION, 51% had ODD-AION, whereas 43% of fellow eyes without NA-AION had ODD (P = .36). No significant differences were found between ODD-AION and NODD-AION eyes in terms of Snellen best-corrected VA or perimetric mean deviation. According to EDI-OCT results, 28% of eyes with NODD-AION had peripapillary hyperreflective ovoid mass-like structures (PHOMS); 7% had hyperreflective lines, whereas 54% with ODD-AION had PHOMS; and 66% had hyperreflective lines (P = .006 and P < .001, respectively)., Conclusions: Most of these young NA-AION patients had ODD. This indicates that ODD may be an independent risk factor for the development of NA-AION, at least in younger patients. This study suggests ODD-AION be recognized as a novel diagnosis., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: It has been assumed that visual field defects in optic disc drusen slowly increase with age or occur during adolescence and do not change substantially in later years. In our study, we aimed to validate these assumptions., Material and Methods: 255 consecutive cases with optic disc drusen were identified from the patient records of the University Eye Hospital Tübingen; the diagnosis was verified and visual fields were quantified as long as available and of sufficient quality. Additionally, visual acuity was evaluated., Results: In 104 cases, quantifiable visual fields of sufficient quality for both eyes were available. In general, few patients with marked visual field defects could be detected. Only three patients showed visual field defects of ≥ 50% in both eyes. Both eyes were usually involved to approximately the same extent. Older age was correlated with more visual field defects. Only one patient remained below visual acuity of 0.3 in both eyes., Discussion: By means of our patient base, a continuous slight decline in the visual field with age can be assumed. Marked visual field defects were rare. The same was true for visual acuity, which showed some mild decline above the age of 60 years., Competing Interests: Die Autoren geben an, dass kein Interessenkonflikt besteht., (Georg Thieme Verlag KG Stuttgart · New York.)

Competing Interests: Competing interests: None declared.

Competing Interests: Competing interests: None declared.

Purpose: To investigate the prevalence and location of optic nerve head drusen and their potential association with other PXE-related ophthalmic abnormalities., Materials and Methods: Thirty-eight of the 155 patients (57 male and 98 female aged 49±17 years) included in this retrospective study had optic nerve head drusen. All of the patients underwent a comprehensive ophthalmic examination, including color images using red-free, blue and red filters, autofluorescence imaging and late-phase ICG frames. Comparative analysis of both groups (optic nerve head drusen or not) was conducted using R statistical software., Results: The prevalence of optic nerve head drusen in our cohort was 24.5%. In this study, no evidence of a significant link between optic nerve head drusen and other fundus abnormalities was detected. They were more commonly located in the nasal sector than in the temporal sector of the optic disc (P<0.001). They were more frequently situated superonasally than inferonasally (P<0.004), superotemporally (P<0.001) or inferotemporally (P<0.03). No central visual field defect was observed in OND+ patients who were unaffected by macular disorders., Discussion: We hypothesized this predominantly nasal primary location may result from greater sensitivity in the nasal optic nerve fibers which follow a much more angular path once they arrive in the scleral canal, accounting for accumulation of axoplasmic debris., Conclusion: In PXE, optic nerve head drusen are mostly located in the superonasal quadrant, causing progressive optic nerve invasion but probably no central visual field defects., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

A 21-year-old man was seen for follow-up of optic nerve head drusen (ONHD) in the ophthalmology department. Funduscopy revealed the presence of choroidal neovascularisation (CNV) in the papillomacular bundle of his right eye (RE). The patient was successfully treated with two intravitreal injections of anti-vascular endothelial growth factor (anti-VEGF). Peri-papillary choroidal neovascularisation in papillomacular bundle is a rare complication in patients with ONHD. These forms of CNV show a good response to anti-VEGF treatment., (Copyright © 2018 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Peripapillary choroidal neovascularisation (PPCNV) associated with optic disc drusen is a rare complication that can result in severe vision impairment in children. We report the first case of paediatric PPCNV secondary to optic disc drusen successfully treated with intravitreal aflibercept. A 6-year-old girl presented with a one week history of reduced vision in her right eye with best-corrected visual acuity of 20/500. Fundus examination revealed bilateral elevated discs with a peripapillary pigmentary lesion in the right eye. Optical coherence tomography of the right eye showed marked subfoveal fluid. Both B-scan ultrasonography and fundus autofluorescence demonstrated findings consistent with optic disc drusen. Diagnosis of PPCNV was further confirmed on fluorescein fundus angiography. The child received three intravitreal aflibercept injections with complete resolution of the subfoveal fluid. Her visual acuity improved to 20/25 with no recurrence at a 16-month follow-up. No adverse side effects were reported., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Sudden visual loss and optic disc edema caused by optic neuritis (ON) is usually followed by significant visual recovery. However, little or no recovery occurs when the loss is caused by atypical ON, especially in patients with neuromyelitis optica (NMO). Optic disc drusen (ODD) is a cause of pseudo optic disc edema and may be a predisposing factor for non-arteritic anterior ischemic optic neuropathy (NAION), thereby mimicking atypical ON. In such cases, if globular concretions are seen protruding from the disc substance, ODD may be suspected. The purpose of this paper is to describe two patients with acute visual loss followed by optic disc atrophy initially labeled as atypical ON. Though not suspected on clinical examination, optical coherence tomography (OCT) revealed deeply buried ODD as a predisposing factor for NAION., Case Presentations: Case 1: A 48-year-old woman had bilateral sequential visual loss associated with optic disc edema. Despite treatment, vision did not improve and severe disc pallor ensued. Atypical ON was suspected. Eventually, she was started on immunosuppressant therapy based on a tentative diagnosis of NMO-spectrum disorder. On examination 5 years later, only severe optic disc pallor was observed, but OCT radial B-scans showed ovoid hyporeflective areas in the retrolaminar region of both eyes, compatible with ODD; this led to a diagnosis of NAION and deeply buried ODD. Case 2. A 35-year-old woman with suspicion of ON in the left eye and a history of previous atypical ON in the right eye was referred for neuro-ophthalmic examination which revealed diffuse optic disc pallor and a dense arcuate visual field defect in the right eye. OCT B-scans passing through the disc showed large ovoid areas of reduced reflectivity in the retrolaminar region of the optic disc in the right eye. These findings helped confirm the diagnosis of NAION in one eye, with deeply buried ODD as predisposing factor., Conclusions: Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON. Awareness of such occurrence is important to avoid unnecessary testing and minimize the risk of mismanagement.

Purpose: To describe the anatomical and functional results of intravitreal antiangiogenic treatment in optic nerve head drusen associated with choroidal neovascularisation., Case Report: An 8 year-old male patient with a diagnosis of neovascular membrane in the right eye associated with bilateral optic nerve head drusen. Best-corrected visual acuity (BCVA) was by counting fingers in the right eye and improved to 0.4 after antiangiogenic treatment. A complete consolidation of the lesion was observed with no associated complications arising from the treatment., Discussion/conclusions: Antiangiogenic treatment is an effective option, and no side-effects have been observed in treatment of neovascular tissue associated with optic disc drusen in children., (Copyright © 2018 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Purpose: To determine if ocular ductions deform intrapapillary and peripapillary tissues in optic nerve head drusen (ONHD) and to compare these deformations with healthy eyes and eyes with other optic neuropathies., Design: Observational case series., Participants: Twenty patients with ONHD., Methods: Axial rasters of the optic nerve from a spectral-domain OCT device (Cirrus 5000; Carl Zeiss Meditec, Inc, Dublin, CA) were used to analyze the shape of the peripapillary basement membrane (ppBM) layer in 20 confirmed cases of ONHD. We compared registered images obtained from 2 eye positions: 10° to 15° in adduction and 30° to 40° in abduction. Geometric morphometrics was used to analyze the shape of the ppBM layer defined by placing 10 equidistant landmarks extending 2500 μm on both sides of the basement membrane opening. We also adapted an image strain tracking technique to measure regional intrapapillary strains in 6 patients. Using manually placed nodes on the reference image (in adduction), an iterative, block-matching algorithm is used to determine local displacements between the reference and its paired image in abduction. Displacement vectors were used to calculate the mean shear and effective strain (percent change)., Main Outcome Measures: Peripapillary shape deformations, intrapapillary shear strains, and effective strains., Results: We found a statistically significant difference in the shape of the ppBM layer between abduction and adduction (P < 0.01). The deformation was characterized by a relative posterior displacement temporally in adduction that reversed in abduction. Strain tracking in all 6 patients showed substantial gaze-induced shearing and effective strains. Mean effective strains were 7.5% outside the drusen. Shear and effective strains were significantly larger outside versus within the drusen (P < 0.003 and P < 0.01, respectively)., Conclusions: This study demonstrates that horizontal ocular ductions induce significant shearing deformations of the peripapillary retina and prelaminar intrapapillary tissues. We also found that the deformations in healthy persons are similar in magnitude to ONHD. Based on these findings, we speculate that patients with intrapapillary calcifications exposed to the long-term effects of repetitive shearing (induced by ocular ductions) may contribute to the progressive axonal loss and vascular complications associated with ONHD., (Copyright © 2018 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: To investigate the prevalence and risk factors for visual field defect in patients with optic disc drusen (ODD)., Methods: We assessed the visual field status of patients with ODD whose diagnosis were confirmed by spectral-domain optical coherence tomography (SD-OCT). Visual field defects were classified as normal, enlarged blind spot, or other defects. ODD were classified into either type 1 (without hyperreflective border and heterogenic internal reflectance) or type 2 (with hyperreflective border and lower internal reflectance). The prevalence and risk factors for each visual field defect was analyzed using logistic regression analysis and classification and regression tree (CART) modeling., Results: Of the 40 eyes with ODD, 33 (83%) eyes were categorized as type 1 and 7 (17%) eyes were categorized as type 2 ODD. Regarding the visual field defects, 19 (48%) eyes showed normal visual field, 11 (28%) eyes showed enlarged blind spot, and 9 (24%) eyes showed other defects. The latter was more frequent in type 2 ODD (P = 0.001). Logistic regression analysis revealed that the factor associated with other defects was the thinning of the average retinal nerve fiber layer (RNFL) (per 10 μm decrease, OR = 3.436, P = 0.004), and the factor associated with enlarged blind spot was the height of ODD (per 100 μm increase, OR = 3.956, P = 0.023). CART modeling revealed that the average RNFL thickness lesser than 85.5 μm, and then the ODD height larger than 348 μm were the best split-up factors for predicting the type of visual field defects., Conclusions: In this study, one-quarter of ODD patients showed abnormal visual field defect other than enlarged blind spot. These other visual field defects appeared to be associated with the axonal loss in the eyes with type 2 ODD.