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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.

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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.

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Optic nerve head (ONH) drusen are acellular calcified concretions. Buried drusen manifests as pseudopapilledema. The compressive effects of ONH drusen can rarely precipitate central retinal vein occlusion (CRVO). The superimposition of pseudopapilledema on disc edema in CRVO poses a diagnostic dilemma. A 40-year-old female without systemic comorbidities presented with resolving CRVO. An exhaustive systemic workup revealed no abnormalities. Ultrasonography demonstrated buried ONH drusen. This unusual etiology must be considered in a young patient in the absence of systemic risk factors, persistence of "nasally conspicuous" disc elevation, and presence of peripapillary hemorrhages. Ultrasonography must be incorporated in the diagnostic armamentarium in a young patient with CRVO.

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PURPOSE: To investigate the distribution of pseudoretinoblastoma (PSRB) cases based on gender, age, and laterality. MATERIALS AND METHODS: The clinical records of 607 patients (851 eyes) who were referred for diagnosis of retinoblastoma or simulating conditions between October 1998 and May 2021 were retrospectively evaluated. Patients were stratified by age as follows: ≤1 year, >1-3 years, >3-5 years, and >5 years. RESULTS: Of 190/607 PSRB patients, 129 (67.9%) were males and 61 (32.1%) females (p = 0.001). The 3 most common diagnoses in males were Coats disease (20.2%), persistent fetal vasculature (PFV, 14.0%), and chorioretinal coloboma (6.2%). In females, the 3 most common diagnoses included PFV (21.3%), retinal dysplasia, congenital glaucoma, and combined hamartoma (each 6.6%). PFV was the most common diagnosis in ≤1 year old patient group (26.6%). Coats disease and PFV were the most common diagnoses in >1-3 years old patient group (each 16.7%). Coats disease was the most common diagnosis in >3-5 years old (30.8%) and >5 years old patient groups (13.1%). PSRBs were unilateral in 121/190 (63.7%) patients. Coats disease usually presented unilaterally (p < 0.001) while PFV, optic nerve head drusen, and retinopathy of prematurity as bilateral diseases (p = 0.019, p = 0.001, and p = 0.001 respectively). DISCUSSION: PSRB diagnoses show differences depending on gender, age, and laterality. In our study, the most common PSRB lesions were Coats disease in males and PFV in females. PFV was the most frequent diagnosis in ≤3 years and Coats disease in >3 years of age groups. Coats disease and PFV were the most common unilateral and bilateral PSRB diagnoses respectively.

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PURPOSE: To investigate the prevalence of optic disc drusen (ODD) and optic nerve head (ONH) morphology in patients diagnosed with normal tension glaucoma (NTG). METHODS: In this prospective cross-sectional study, we included patients diagnosed with NTG from two glaucoma units. In both eyes, dense enhanced depth imaging optical coherence tomography volume scans of the ONH by means of standardized scanning guidelines were performed to examine for presence of ODD, and radial ONH scans were used for investigating parameters such as scleral canal diameter, cup/disc ratio and cup depth. RESULTS: We found ODD in 7 (3.6%) of 195 eyes, in 6 (6.1%) out of 98 patients diagnosed with NTG. The ODD were not ophthalmoscopically visible in five out of six patients. Eyes with ODD had lower cup/disc ratio, 0.44 ± 0.4 (p = 0.040), and less-prominent cup depth, 236.6 ± 204.4 µm (p = 0.041) compared to eyes without ODD, 0.81 ± 0.2 and 437.8 ± 139.1 µm, respectively. We found no significant difference in scleral canal diameter between the eyes without (1602.8 ± 193 µm) and those with ODD (1492 ± 123.4 µm, p = 0.057). CONCLUSION: The prevalence of ODD in patients diagnosed with NTG is substantially higher than in the background population. A low cup/disc ratio correlates with ODD presence. Therefore, due to the challenges associated with NTG diagnosis, we recommend examining the deep layers of the ONH in NTG patients with a cup/disc ratio lower than 0.5 to avoid misdiagnosing ODD as NTG.

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Background: Around one in forty patients are diagnosed with optic disc drusen (ODD) during their lifetime. Complications of these acellular deposits range from asymptomatic visual field deficits to artery occlusion and subsequent cecity. Still, the pathogenesis of their emergence remains controversial. In particular, it was suggested 50 years ago that a narrow disc and scleral canal is one factor leading to axoplasmic flow disturbance, which induces ODD formation. However, this hypothesis is still debated today. To evaluate the basis of this theory, we will conduct a systematic review and meta-analysis of studies evaluating the scleral canal size in patients with ODD and in healthy subjects. Methods: We will search MEDLINE via PubMed, Cochrane, and EMBASE electronic databases to identify articles published before November 29, 2022 that measure the scleral canal size in patients with ODD and in healthy subjects. In addition, grey literature will be searched. The meta-analysis will include studies that include patients with a clinical or imaging diagnosis of ODD and healthy subjects. Additionally, we will perform a subgroup analysis to compare patients with buried ODD and patients with visible ODD. Extracted data from included studies will be presented descriptively, and effect sizes will be computed based on the recommendations from the Cochrane Collaboration handbook. Discussion: The hypothesis that a narrow scleral canal is a risk factor of ODD has long been debated and this systematic review and meta-analysis should disentangle the different views. Understanding the underlying factors driving the development of ODD should help us focus on patients at risk and develop strategies to prevent advanced stages of the disease in these patients. Besides, focusing on patients with small scleral canals should help us derive associated factors and provide a better understanding of the pathology. Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022375110.

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Background Optic nerve head drusen (ONHD) are acellular deposits in the optic nerve head, whose pathophysiology remains not fully understood. Most patients with ONHD have visual field (VF) defects. This study aims to describe the VF defects observed in patients with ONHD and to compare the anatomical and functional impairment between visible and buried ONHD. Methods Patients with ONHD were retrospectively studied. The retinal nerve fiber layer (RNFL) average thickness and the ganglion cell complex (GCC) average thickness were collected from optical coherence tomography data. Visual field index (VFI), mean deviation (MD), and pattern standard deviation (PSD) were collected from 30-2 standard automated perimetry. An abnormal VF test was defined as having a Glaucoma Hemifield Test outside normal limits and/or a PSD with a p-value<5%. Eyes with superficial or buried ONHD based on visibility by slit-lamp ophthalmoscopy were compared. Results Sixty-six eyes of 36 patients were included in the study. The mean age was 39.6 ± 2.5 years. Forty-nine eyes (81.7%) presented a VF defect: concentric VF constriction in 19 (38.8%), arcuate scotoma in 16 (32.7%), enlarged blind spot in 9 (18.4%), unspecific VF defect in 8 (16.3%), and nasal step in 3 (6.1%). Thirty-four eyes (51.5%) had superficial ONHD and 32 eyes (48.5%) had buried ONHD. Patients with superficial ONHD were significantly older (p<0.001) and presented a significantly lower VFI (p=0.010), lower MD (p=0.002), higher PSD (p<0.001), thinner GCC (p<0.001), and thinner RNFL (p<0.001) than patients with buried ONHD. VF defects were present in 90.6% of eyes with superficial ONHD and 71.4% of eyes with buried ONHD (p=0.113). The type of VF defects differed between groups (p=0.020). Conclusions Functional and structural impairment is more evident in eyes with superficial ONHD, maybe because the presence of calcification leads to greater axonal damage. Buried ONHD is more prevalent in younger patients, progressing to a superficial location and becoming calcified with age.

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BACKGROUND: Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus. CASE PRESENTATION: We present the case of an otherwise healthy 39-year-old Iranian woman with no family history of ocular disease who suffered with progressive vision loss that had started 2 years prior to presentation. Ocular examination revealed blurry optic nerve head margin and diffuse retinal crystalline deposit in both eyes. Spectral domain optical coherence tomography images showed retinal crystals, located mostly in outer retinal layers, with some areas of outer retinal tubulation and attenuation of outer retinal layers. Crystalline deposits were better visualized on near-infrared images as hyperreflective spots. Fundus autofluorescence images showed hyperautofluorescence areas on optic nerve head consistent with optic nerve head drusen and large hypoautofluorescence areas in posterior retina consistent with retinal pigment epithelium atrophy. Cystinosis was ruled out by blood testing. CONCLUSION: Bietti crystalline dystrophy may be associated with optic nerve head drusen.

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Purpose: To develop a method to determine the volume of peripapillary hyperreflective ovoid masslike structures (PHOMS) and to examine the correlation between PHOMS and anatomic optic nerve head characteristics in a large cohort of patients with optic disc drusen (ODD). Design: Retrospective, observational study of patients with ODD. Participants: Patients with ODD seen in a 3-year period. Methods: We determined the prevalence of PHOMS. We then developed a method to calculate the volume of PHOMS and measured this in all patients where radial scans on OCT were available. We analyzed the correlation between PHOMS volume and patient age, size of Bruch's membrane opening (BMO), ODD visibility, and anatomic location of ODD in the optic nerve. Main Outcome Measures: Prevalence and characteristics of PHOMS in patients with ODD. Results: In 247 (77%) eyes with ODD, PHOMS were found. Among these, 80% were in the first decade of life, 87% were in the second decade, 89% were in the third decade, 85% were in the fourth decade, 74% were in the fifth decade, 73% were in the sixth decade, 58% were in the seventh decade, 40% were in the eighth decade, and 0% were in the ninth decade. The ophthalmoscopic visibility of ODD increased with age. The volume of PHOMS decreased with age, but with no correlation to the size of BMO. The median volume of PHOMS was 0.27 mm3 (interquartile range [IQR], 0.13-0.49 mm3). Predominantly, PHOMS were observed in the nasal peripapillary area (87.5% nasal, 78.5% superior, 67% inferior, and 63.5% temporal). Conclusions: In patients with ODD, PHOMS are seen frequently, with the highest prevalence in younger individuals. The volume of PHOMS decreases with age, and PHOMS are seen more frequently in patients with superficial ODD.

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Deep optic disc drusen (ODD) are located below Bruch's membrane opening (BMO) and may go undetected due to the challenges in imaging them. The purpose of this study is a head-to-head comparison of currently widely used imaging technologies: swept-source optical coherence tomography (SS-OCT; DRI OCT-1 Triton, Topcon) and enhanced depth imaging spectral-domain optical coherence tomography (EDI SD-OCT; Spectralis OCT, Heidelberg Engineering) for the detection of deep ODD and associated imaging features. The eyes included in this study had undergone high-resolution imaging via both EDI SD-OCT and SS-OCT volume scans, which showed at least one deep ODD or a hyperreflective line (HL). Grading was performed by three graders in a masked fashion. The study findings are based on 46 B-scan stacks of 23 eyes including a total of 7981 scans. For scan images with ODD located above or below the level of BMO, no significant difference was found between the two modalities compared in this study. However, for HLs and other features, EDI SD-OCT scan images had better visualization and less artifacts. Although SS-OCT offers deep tissue visualization, it did not appear to offer any advantage in ODD detection over a dense volume scan via EDI SD-OCT with B-scan averaging.

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Visual field defects are common in patients with optic disc drusen (ODD). Our aim was to examine whether reduced optic nerve head (ONH) microcirculation is related to visual field defects in ODD patients. Vascular and tissue area mean blur rate (MBRV and MBRT), measured using laser speckle flowgraphy (LSFG), was significantly lower in the 32 included ODD eyes when compared with 40 healthy eyes (p <.05). There was a moderate correlation between the difference in MBRT and the perimetric mean defect (R2 = 0.53) in ODD patients. These findings demonstrate the utility of LSFG in examining ONH blood flow in ODD patients.

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The aim of this retrospective study was to evaluate if, in ocular normotensive patients, at the time of diagnosis of optic nerve head drusen (ONHD), perimetric mean deviation (PMD) on visual field (VF) examination and retinal nerve fibre layer (RNFL) thickness on optical coherence tomography correlated with intraocular pressure (IOP). There was a significant association between IOP and PMD (Spearman's rho = -0.863, p < .01) and between IOP and RNFL thickness (Spearman's rho = -0.630, p < .01). A higher IOP was associated with a greater functional loss in the VF and a reduction in the RNFL thickness. These results suggest that a clinical trial of IOP reduction should be considered in patients with ONHD to decrease the progression of optic nerve damage over time.

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Optic nerve head drusen (ONHD) are typically benign hyaline and calcified concretions located within the optic nerve. Initially asymptomatic, they can increase slowly in size and number over time, and they can cause mechanical stress at the axons of the optic nerve and progressively lead to a loss of the visual field and papillary vascular changes. Here, we reported a rare case of a young patient with bilateral ONHD complicated by a nonarteritic anterior ischemic optic neuropathy (NAION) in the right eye. The aim of this case was to evaluate, using optical coherence tomography angiography (OCTA), the vascular network of the papillary region in both eyes in the presence of this ischemic event associated to ONHD. At OCTA examination, the whole papillary region revealed a general rarefaction of the vascular network, but it turned out to be greater in the right eye affected by nonarteritic anterior ischemic optic neuropathy than in fellow eye. Therefore, these findings demonstrated that ONHD may determine significant ischemic events of the optic nerve and OCTA represents a valid and noninvasive tool in the diagnosis and in the pathogenesis of these rare cases of NAION associated to ONHD in young patients.

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CLINICAL CASE: Forteen year old patient presenting progressive decrease in visual acuity of the left eye after 3 months of evolution. On examination he presents bilateral drusen of papilla, associated with juxtapapillary neovascular membrane, which seriously compromises the vision and visual field of the left eye. RESULT: Treatment with 3 consecutive injections of intravitreal ranibizumab resulted in the inactivation of the neovascular membrane with reabsorption of subretinal fluid and improvement of the best corrected visual acuity of the left eye. After 9 months of follow-up, it was 20/20 and stable. CONCLUSION: Although optic nerve head drusen are considered benign, neovascular membranes can be a complication. Anti-VEGFs are an effective alternative for treatment.

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The aim was to analyse the optic disc angioarchitecture in optic disc drusen (ODD) patients using computer-based fundus analysis in a case-control study. Compared with controls the ODD group had a significantly more centralised central retinal artery (CRA) emergence (p < 0.001) and primary CRA branching (p = 0.008), a higher number of CRA bifurcations (p = 0.02), a larger vertical optic disc diameter (p = 0.02) and a smaller cup/disc ratio (p < 0.001). The CRA emergence was largely within the nasal zone for both groups. The distinctive angioarchitecture of the optic disc in ODD patients can play a role in understanding the pathogenic cause of ODD.

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BACKGROUND: Optic disc drusen (ODD) can cause retinal nerve fibre layer (RNFL) defects with progressive visual field (VF) loss. Microvascular changes are discussed as a cause. We measured the vessel density (VD) of the optic disc in ODD using optical coherence tomography angiography and compared it with a normal population. Another intent was to determine the sensitivity and correlations in comparison with functional (VF) and structural parameters (RNFL, minimum rim width (MRW), ganglion cell complex (GCC)). METHODS: We analysed the VD of 25 patients with ODD and an age-matched control population including 25 healthy participants using AngioVue (Optovue, Fremont, CA, USA). We obtained data about RNFL, GCC, Bruch's membrane opening MRW (Spectralis HRA & OCT; Heidelberg Engineering, Germany) and VF (standard automated perimetry; SITA 24-2). Low image quality and pathologies interfering with the diagnostics were excluded. Parametric data were analysed using the t-test and non-parametric values using the Mann-Whitney U test. Linear regression analysis was used to determine correlations using the Bravais-Pearson test. RESULTS: The VD was significantly reduced in the ODD group especially the peripapillary capillary VD (n=45 vs 50 eyes; mean 43.15% vs 51.70%). Peripapillary RNFL thickness correlated with the VD significantly (r=0.902 (n=44), 0.901 (n=44), 0.866 (n=45)). The RNFL analysis showed a reduction in ODD, especially the superior hemisphere (mean 107 µm, 129 µm; 49 vs 50 eyes). The GCC was significantly lower in the ODD group (n=38 vs 40; mean 87 µm vs 98 µm). Positive correlation between the VD and the GCC was significant (n=37, r=0.532). There is a significant negative correlation (n=19; r=-0.726) between the VD and the pattern standard deviation (PSD). CONCLUSION: This study reveals significant peripapillary microvascular changes in patients with ODD correlating with the RNFL and GCC reduction. There is a negative correlation between the PSD and the VD.

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PURPOSE: Optic disc drusen (ODD) are calcified optic nerve head deposits. Objectives of this study were to examine the prevalence of ODD in eyes removed by enucleation and to describe related histopathological signatures of ODD and surrounding tissues. METHODS: The study was a retrospective observational case series study assessing and re-evaluating enucleated eyes in Denmark from 1980 to 2015 by microscopy. Individual ODD were described based on size, number and location (superficial and/or deep) within the optic nerve. Optic nerve heads with ODD were assessed for elevated discs, retinal nerve fibre layer (RNFL) thickness, oedematous axons and presence of localized peripapillary axonal distension (LPAD) equivalent to the peripapillary hyperreflective ovoid mass-like structures seen on optical coherence tomography. RESULTS: Microscopy of 1713 eyes revealed ODD in 31 eyes equivalent to a prevalence of 1.8%. Optic disc drusen (ODD) were seen as circular shapes of different sizes and varying number. Elevated discs were present in 15 (54%) of the cases. Thickening of the superficial RNFL was present in eyes with large deeply located ODD. For more superficial ODD of approximately same size, the RNFL was thinner. Oedematous axons were present in three eyes. Localized peripapillary axonal distension (LPAD) was seen in five eyes. CONCLUSIONS: Prevalence of ODD in this study of histopathological signatures was higher than the prevalence found in clinical studies. Our results suggest that large, deep ODD might cause crowding and herniation of axons in the optic nerve head leading to a thickened superficial nerve fibre layer, pseudopapilledema and LPAD.

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PURPOSE: To report the visual and anatomical outcomes in eyes with peripapillary choroidal neovascularisation (CNV) through 12 months. METHODS: This was a multicentre, retrospective, interventional case series which included treatment-naïve cases of peripapillary choroidal neovascular membrane (CNVM) with a minimum follow-up of 12 months. Multimodal imaging which comprised optical coherence tomography (OCT), fluorescein angiography and/or indocyanine green angiography was performed at baseline and follow-up visits. OCT parameters included central macular thickness (CMT), subfoveal choroidal thickness (SFCT) and retinal and choroidal thickness at site of CNV. Patients were treated with anti-vascular endothelial growth factors (VEGF) on pro re nata protocol, photodynamic therapy, laser photocoagulation or a combination. Main outcome measures were change in best corrected visual acuity (BCVA) and OCT parameters. RESULTS: A total of 77 eyes (74 patients; mean age: 61.9±21.8 years) with a mean disease duration of 9.2±14.1 months were included. BCVA improved significantly from 0.55±0.54 logMAR (20/70) at baseline to 0.29±0.39 logMAR (20/40) at 12 months (p<0.001) with a mean of 4.9±2.9 anti-VEGF injections. CMT, SFCT and retinal thickness at site of CNVM reduced significantly (p<0.001, <0.001 and 0.02, respectively) through 12 months. The most common disease aetiologies were neovascular age-related macular degeneration, and idiopathic, inflammatory and angioid streaks. Age (p=0.04) and baseline BCVA (p<0.001) were significant predictors of change in BCVA at 12 months. CONCLUSION: Peripapillary CNVM, though uncommon, is associated with diverse aetiologies. Anti-VEGF agents lead to significant visual acuity and anatomical improvement in these eyes over long term irrespective of the aetiology.

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Although isolated optic nerve head drusen (ONHD) and peripapillary myelinated retinal nerve fibres (MRNF) are described in the literature many times as far as we could reach, the combination of the two has been reported in only a single case without multimodal imaging. Here, we present multimodal imaging of a 47-year-old healthy woman with MRNF who had blind spot enlargement and a visual field defect in the left eye ascribed to the ONHD. ONHD may accompany MRNF which can hide the disc drusen. Clinicians, therefore, should be aware of this rare coexistence to explain possible complications such as visual field defects associated with drusen in patients with MRNF.