Search

Purpose: To present a clinically based approach to the differentiation of optic disc edema (DE) cases, commonly seen in neuro-ophthalmology., Methods: Consecutive patients who were considered to have unilateral or bilateral DE during examinations in the outpatient clinic and were referred to the neuro-ophthalmology department were included in this prospective study. The examination findings and differential diagnosis based on clinical signs and symptoms, and neuro-ophthalmological approach were evaluated in cases of DE., Results: Of the 119 cases with DE, 69 (58%) were women and 50 (42%) were men, where 89 (75%) had true optic DE (ODE) and 30 (25%) had pseudo optic DE  (PODE). Non-arteritic anterior ischemic optic neuropathy (n = 40), increased intracranial pressure (n = 32), and anterior optic neuritis (n = 17) were determined as the causes of true ODE, whereas small and crowded optic disc (n = 12), tilted optic disc (n = 8), myelinated nerve fibers (n = 5) and optic disc drusen (n = 5) as the causes of PODE. Patients with optic neuritis were the youngest (28.41 years) group of ODE cases while those with non-arteritic anterior ischemic optic neuropathy were the oldest (59.98 years). The first symptoms were sudden and painless loss of vision and/or visual field in cases with non-arteritic anterior ischemic optic neuropathy, pain increasing with eye movements and loss of vision and/or visual field in cases with optic neuritis, headache, and from time to time blurred vision in cases with increased intracranial pressure. Patients having vision loss due to amblyopia constituted (30%) of PODE cases while 70% were determined incidentally and they had the best visual acuity. The accuracy of the preliminary diagnosis based on neuro-ophthalmologic examination findings was 79% in all cases., Conclusion: Detailed history taking and neuro-ophthalmological examination are essential in the differential diagnosis of ODE and PODE., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Background: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are a recently defined optical coherence tomography (OCT) finding. The purpose of this study was to characterize the presence of PHOMS and their visual significance in pediatric patients with and without optic nerve pathologies., Methods: This retrospective study evaluated 400 patients (<18 years of age) including normal control subjects and patients with optic neuritis, papillitis, optic nerve head drusen (ONHD), and papilledema. Information on demographics, visual function, and structural parameters were obtained., Results: PHOMS were found in 7 of 258 normal control eyes (2.7%), 9 of 59 eyes with optic neuritis (15.3%), 58 of 76 eyes with ONHD (76.3%), 3 of 11 eyes with papillitis (27.3%), and 180 of 308 eyes with papilledema (58.4%). PHOMS were more prevalent in the papilledema (P < 0.001), ONHD (P < 0.001), and optic neuritis (P = 0.028) eyes than in control eyes. We identified 5 cases where PHOMS developed de novo. This occurred over an average of 2.3 years (range, 0.2-7.4 years). Sixteen cases of PHOMS resolved over an average of 1.1 years (range, 0.3-4.0 years). Cross-sectionally, PHOMS were not associated with visual acuity (P = 0.551), retinal nerve fiber layer thickness (P = 0.068), ganglion cell volume (P = 0.375), or visual field mean deviation (P = 0.795)., Conclusions: PHOMS are present in a majority of children with papilledema or ONHD. PHOMS are dynamic and may form de novo over time with optic nerve pathology and may resolve either through treatment or atrophy. There was no relationship between the presence of PHOMS and poor visual function in our study cohort., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

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.)

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., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

The aim of the study is to evaluate the progression of visual field (VF) defects over 16 years of observation and to assess abnormalities in vessels and retinal nerve fibre layer (RNFL) thickness in patients with optic disc drusen (ODD). Both static automated perimetry (SAP) and semi-automated kinetic perimetry (SKP) were performed in 16 eyes of 8 patients (mean age 54 years) with ODD among 26 eyes of 13 patients examined 16 years before. The area of I2e, I4e, III4e, and V4e isopters was measured in deg2. The MD and PSD parameters were estimated using SAP. Optical coherence tomography angiography (OCT-A) was additionally performed in 16 ODD eyes and 16 eyes of 8 healthy subjects to estimate the RNFL thickness and vessel density of the optic nerve disc and the macula. The differences in all isopter areas of SKP and SAP parameters after 16 years were not significant. The analysis of OCT-A showed a significant reduction of the vessel density and RNFL of the peripapillary area in each segment in patients with ODD, compared with the control group. The highest reduction of RNFL was observed in the superior segment of the optic disc area (92.56μm vs 126.63μm) also the macular thickness was decreased in ODD patients, compared with the control group. In the macula, there was a significant vascular defect in the whole superficial layer and in the parafoveal deep layer. A strong significant correlation of the parafoveal deep plexus with MD and PSD parameters was detected. In conclusion, VF loss due to ODD after 16 years of the follow-up was not significant both in SKP and SAP. ODD caused a reduced vessel density and RNFL, as well as macular thickness in OCT-A. SAP parameters were influenced by parafoveal deep plexus., Competing Interests: The authors have declared that no competing interests exist.

Purpose of Review: Optic nerve head elevation can be associated with vision loss. This review provides an update regarding key features of optic disc drusen (ODD) compared with papilledema from increased intracranial pressure and optic disc edema from other causes., Recent Findings: Clinical history and funduscopic examination are not sufficient to correctly diagnose different causes of optic nerve head elevation. Multimodal ophthalmic imaging is noninvasive and should be used as first-line diagnostic testing to distinguish optic disc edema or papilledema from pseudoedema. Advanced ophthalmic imaging, including enhanced depth imaging optical coherence tomography (EDI-OCT) and autofluorescence imaging, can visualize ODD at high resolution and determine whether there is optic disc edema. OCT angiography does not require contrast and can rapidly visualize papillary, peripapillary, and macular microvasculature and identify important vascular biomarker of ischemia and, potentially, visual prognosis., Summary: Multimodal ophthalmic imaging can help in the diagnosis of ODD and optic disc edema and identify patients at high risk of vision loss and neurological issues in order to ensure appropriate diagnosis and treatment., (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc.)

Background: To assess the utility of enhanced depth imaging optical coherence tomography (EDI-OCT), compared with other conventional imaging modalities, for detecting and characterizing optic nerve head drusen (ONHD) in children., Methods: We report a retrospective cross-sectional case series of consecutive pediatric patients (age ≤16 years) with ONHD confirmed using B-scan ultrasonography. All eyes were evaluated using spectral-domain OCT of the optic nerve head in conventional (non-EDI) and EDI modes, fundus autofluorescence (FAF), and standard automated perimetry. Detection rates and the capacity to characterize ONHD were compared between EDI-OCT, non-EDI-OCT, and FAF., Results: Twenty-eight eyes of 15 patients (mean age 11 years; 60% female) were identified with definite ONHD that were confirmed by B-scan ultrasound. Among the technologies, EDI-OCT, non-EDI-OCT, FAF, and automated perimetry had findings consistent with ONHD in 24, 21, 18, and 4 eyes, respectively. EDI-OCT had a significantly better detection capability (86% of eyes) compared with FAF (P = 0.04) but not with non-EDI-OCT (P = 0.15). Similar to results previously reported in adult patients, EDI-OCT detected ONHD at different levels of depth; most were located anterior to the lamina cribrosa. ONHD detected by EDI-OCT appeared as hypo-reflective ovoid regions bordered by hyper-reflective material or as isolated hyper-reflective bands without a hypo-reflective core. The mean greatest diameter of ONHD seen on EDI-OCT was 449.7 (SD ±114.1) μm., Conclusions: EDI-OCT detects ONHD in most eyes identified as having drusen on B-scan ultrasonography. This technique has the potential to be an effective alternative first-line diagnostic and monitoring tool for ONHD, particularly for detecting buried drusen in children.

Purpose: To determine the key optical coherence tomography (OCT) and OCT angiography (OCTA) parameters that correlate with visual field loss in optic disc drusen (ODD)., Design: Retrospective cross-sectional study., Methods: Single academic center. Seventeen patients with ODD (29 eyes) and 35 age-matched controls (53 eyes). Static perimetry, OCT, and OCTA imaging of optic disc and macula. Static perimetry, OCT, and OCTA measurements., Results: We investigated the relationship between static perimetry and 14 OCT/OCTA measurements in patients with ODD vs age-matched controls and found 5 key measurements that most correlated with visual field loss included: peripapillary retinal nerve fiber layer (RNFL), macular ganglion cell complex (GCC), peripapillary vessel area density (VAD), macular vessel diameter (VD), and flux. Hierarchical clustering of these 5 measurements vs all clinical characteristics revealed 3 distinct clusters. ODD and control eyes with no visual field loss (mean deviation [MD] > -2.0 dB) had high RNFL and GCC, and low macular VD and flux. ODD eyes with mild visual field loss (MD -2.0 to -5.0 dB) had high RNFL, GCC, and increased macular VD and flux. ODD eyes with moderate/severe visual field loss (MD < -5.0 dB) had decreased RNFL, GCC, peripapillary VAD, and increased macular VD and flux., Conclusions: OCT and OCTA provided objective measurements that can help predict visual field loss in ODD. Our data suggest that increased macular flow may be an early biomarker of visual field loss in ODD, while decreased peripapillary vessel density and RNFL thickness are late biomarkers of visual field loss in ODD., (Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.)

Fibulin-3 (also known as EGF-containing fibulin extracellular matrix protein 1 (EFEMP1)) is a secreted extracellular matrix glycoprotein, encoded by the EFEMP1 gene that belongs to the eight-membered fibulin protein family. It has emerged as a functionally unique member of this family, with a diverse array of pathophysiological associations predominantly centered on its role as a modulator of extracellular matrix (ECM) biology. Fibulin-3 is widely expressed in the human body, especially in elastic-fibre-rich tissues and ocular structures, and interacts with enzymatic ECM regulators, including tissue inhibitor of metalloproteinase-3 (TIMP-3). A point mutation in EFEMP1 causes an inherited early-onset form of macular degeneration called Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). EFEMP1 genetic variants have also been associated in genome-wide association studies with numerous complex inherited phenotypes, both physiological (namely, developmental anthropometric traits) and pathological (many of which involve abnormalities of connective tissue function). Furthermore, EFEMP1 expression changes are implicated in the progression of numerous types of cancer, an area in which fibulin-3 has putative significance as a therapeutic target. Here we discuss the potential mechanistic roles of fibulin-3 in these pathologies and highlight how it may contribute to the development, structural integrity, and emergent functionality of the ECM and connective tissues across a range of anatomical locations. Its myriad of aetiological roles positions fibulin-3 as a molecule of interest across numerous research fields and may inform our future understanding and therapeutic approach to many human diseases in clinical settings.

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: 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., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: Monochromatic blue-light fundus autofluorescence has proven to be particularly useful for the detection of optic disc drusen (ODD). The aim of this study was to investigate how accurately novel confocal scanners can detect ODD by means of color fundus and autofluorescence images., Methods: Images were taken in 20 consecutive patients' eyes with funduscopically visible ODD using the TrueColor Eidon AF (60 × 55°) and the spectral domain Spectralis HRA+OCT (30 × 30°). The features of ODD, including localization, extent, and intensity patterns of autofluorescence were compared and correlated with retinal nerve fiber layer (RNFL) thickness in OCT and perimetry findings., Results: Mean patient age was 46 ± 6 years (6 females, 4 males). The TrueColor Eidon AF enabled accurate localization and extent estimation of the drusen area. Drusen presented as a homogeneous signal. The predilection site of ODD, which was nasally pronounced in >80% of cases, was associated with thinning of the RNFL and corresponding visual field defects., Conclusion: The TrueColor Eidon AF allows reliable detection of superficial ODD in nondilated eyes. Extended observational studies are needed to determine the value of this noninvasive, nonmydriatic procedure in terms of follow-up and progression analyses of ODD., (© 2019 S. Karger AG, Basel.)

Purpose: The optic nerve drusen (DON) are precisely described in many papers. But fewer papers evaluate real haemodynamics parameters (HP) in DON. Clinically, it has been shown, that the development and progression of visual field changes in DON is closely related to the hemodynamics of the ocular vascular supply - the optic nerve. DON can visually overlap the excavation optic disc, making it difficult to evaluate scotomas of the visual field in glaucoma., Methods: HP was prospectively evaluated in 54 patients with compensated intraocular pressure and DON. The drusen at the optic nerve head have been detected by fundus examination and B-scan ultrasonography (USG). DON were divided into 3 groups according to the size of the individual drusen or the drusen complex. I. Group: area size up to 1.9 mm. II. Group: area size: 1.9 - 3.9 mm. III. Group: area size: 4,0 mm. HP - maximum systolic velocity (MSV), minimal diastolic velocity (MDV) and resistance indices (IR) and index pulsatility (IP) - were recorded at the central retinal artery (CRA), at the central retinal vein (CRV), at ciliares posteriores arteries breves (CPAb) and at the ophthalmic artery (AO). The values were divided into 3 groups: 1 - Physiological: CRA: 8.7 ± 0.9 / 2.9 ± 0.6 cm/s or RI: 0.70 ± 0.05. 2 - Slightly impaired: CRA: 6.6 ± 0.8 / 2.0 ± 0.5 cm/s, or RI: 0.75 ± -0.04. 3 - Significantly impaired: CRA: 5.2 ± 1.2 / 1.9 ± 0.7 cm/sec or RI: 0.79 ± 0.03., Results: There was no linear relationship between size of DON and HP. Slight worsening of HP at the CRA was in I. Group (28.6 %), II. Group (48.3 %) and III. Group (62.4 %). Significant worsening of HP at the CRA was I. group (28.6 %), II. Group (48.3 %) and in III. Group (62.4 %). HP of the CPA and of the OA were not significant due to the presence and size of drusen. The relationship between individual variables was evaluated using the Pearson correlation coefficient 0.213. I. Group P: 0.354, II. Group P: 0.073, III. Group P: 0.287., Conclusions: HP is more often impaired in &#8222;large&#8220; DON (Group III), rarely in Group I, but this is not a rule. HP cannot be predicted according to the size of the druse formation at the optic nerve. It seems that the deterioration of HP depends not only on the DON size but also on the location (the distance from the lamella cribriformis) and also to the vascular system intrapapillary.

Background: Optic disc drusen (ODD) are acellular deposits in the optic nerve head. ODD can be diagnosed using different imaging modalities, including enhanced depth imaging optical coherence tomography (EDI-OCT) and autofluorescence (AF). It is unknown which factors determine the sensitivity of AF. The aim of this study was to investigate the effect of volume and anatomic location of ODD on the sensitivity of AF., Methods: Cross-sectional study., Results: A total of 38 patients (75 eyes) with ODD were included. In 12 of 75 eyes (16%) and in 11 of 38 patients (29%), EDI-OCT detected ODD that were not detected by AF. In 24 distinctly solitary ODD, both increase in ODD volume (P = 0.0388) and a more superficial ODD location (P < 0.0001) increased the possibility of AF detection of ODD, when performing a multivariate analysis., Conclusions: EDI-OCT is superior to AF in the diagnosis of ODD. Volume and anatomic location of ODD have a significant impact on the sensitivity of AF.

Purpose: The aim of the study was to compare optic nerve function in eyes with brinzolamide-reduced intraocular pressure (IOP) and the fellow eyes of patients with optic disk drusen (ODD)., Methods: The study comprised 34 patients with bilateral ODD but no signs of any other ocular disease. The eyes with more advanced optic neuropathy were selected for treatment with an IOP-lowering drug, carbonic anhydrase inhibitor (brinzolamide); the fellow eyes served as the control. Static perimetry, pattern electroretinography (PERG), pattern visual-evoked potentials (PVEP), and retinal nerve fiber layer (RNFL) thickness were analyzed. The observation period was 12 months., Results: The eyes with brinzolamide-reduced IOP exhibited a statistically significant decrease in the mean defect index of static visual field (p = 0.03), an increase in PERG N95 amplitude (from 2.94 to 4.41 µV; p = 0.0047), and RNFL thickness stabilization. A statistically significant decrease in RNFL thickness (from 83.21 to 79.85 µm; p = 0.0017) was found in the control eyes., Conclusions: A decrease in IOP in eyes with ODD results in improvement of retinal ganglion cell function and delays the progression of optic neuropathy. PERG should be performed in patients with ODD as it is a sensitive test for monitoring optic neuropathy., (© 2017 The Author(s) Published by S. Karger AG, Basel.)

Background: Making an accurate diagnosis of optic disc drusen (ODD) is important as part of the work-up for possible life-threatening optic disc edema. It also is important to follow the slowly progressive visual field defects many patients with ODD experience. The introduction of enhanced depth imaging optical coherence tomography (EDI-OCT) has improved the visualization of more deeply buried ODD. There is, however, no consensus regarding the diagnosis of ODD using OCT. The purpose of this study was to develop a consensus recommendation for diagnosing ODD using OCT., Methods: The members of the Optic Disc Drusen Studies (ODDS) Consortium are either fellowship trained neuro-ophthalmologists with an interest in ODD, or researchers with an interest in ODD. Four standardization steps were performed by the consortium members with a focus on both image acquisition and diagnosis of ODD., Results: Based on prior knowledge and experiences from the standardization steps, the ODDS Consortium reached a consensus regarding OCT acquisition and diagnosis of ODD. The recommendations from the ODDS Consortium include scanning protocol, data selection, data analysis, and nomenclature., Conclusions: The ODDS Consortium recommendations are important in the process of establishing a reliable and consistent diagnosis of ODD using OCT for both clinicians and researchers.

Objective: To determine whether at the time of diagnosis, the intraocular pressure (IOP) in patients with optic nerve head drusen (ONHD) correlates with the perimetric mean deviation (PMD) and the mean retinal nerve fiber layer (RNFL) thickness on optical coherence tomography (OCT)., Methods: This retrospective chart review included adults with ONHD from 2 academic medical centers. Inclusion criteria were age older than 18 years, definitive diagnosis of ONHD, measurement of IOP, and an automated visual field (VF) within 3 months of diagnosis. Exclusion criteria were unreliable VFs, use of IOP-lowering therapy, and visually significant ocular comorbidities. Data were collected from the initial visit. Age, IOP, method of diagnosis of ONHD, mean RNFL thickness, and PMD were recorded. Multiple and logistic regression models were used to control for potential confounders in statistical analyses., Results: Chart review identified 623 patients, of which 146 patients met inclusion criteria. Mean age was 44.2 years (range: 19-82 years). Average PMD of 236 eyes was -5.22 dB (range, -31.2 to +1.21 dB). Mean IOP was 15.7 mm Hg (range: 6-24 mm Hg). Forty eyes (16.9%) underwent RNFL measurement using OCT; mean RNFL thickness was 79.9 μm (range: 43-117 μm). There was no statistically significant association between IOP and PMD (P = 0.13) or RNFL thickness (P = 0.65). Eyes with ocular hypertension tended to have less depressed PMD than those without (P= 0.031). Stratified analyses of visible and buried subgroups yielded similar results., Conclusions: Lowering IOP in patients with ONHD has been proposed as a means to prevent progression of optic neuropathy. Our study demonstrated that among predominately normotensive eyes, higher IOP was not associated with greater VF loss or thinner RNFL at the time of presentation. This suggests that lowering IOP may not be beneficial in preventing visual loss in normotensive eyes with ONHD.

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.)

Background: Optic disc drusen (ODD) are seen in up to 2.4% of the general population, but the etiology and pathophysiology of the condition is still unknown. The purpose of this study was to determine the prevalence of ODD in a population-based child cohort and to determine if scleral canal diameter and fetal birth and pubertal parameters are associated with the presence of ODD., Methods: This observational, longitudinal population-based birth cohort study, with a nested case-control, included 1,406 children. Eye examinations were performed when the children were between 11 and 12 years of age. Assessment was performed of optical coherence tomography (OCT) scans from 1,304 children with gradable enhanced depth imaging scans of the optic disc., Results: ODD in one or both eyes were found in 13 (1.0%) of all children. All but one of the cases were found in children with scleral canal diameter in the lowest quartile (1,182-1,399 μm) in the nested case-control study. Children with ODD had a mean disc diameter of 1,339 μm (interquartile range, 30 μm), whereas it was 1,508 μm (interquartile range, 196 μm) in the 130 controls without ODD (P < 0.001). No differences in sex, birth weight, refractive error, and Tanner stages (of puberty) were found between children with and without ODD., Conclusions: The prevalence of ODD was 1% in a large child cohort examined by OCT. ODD was found only in eyes with a narrow scleral canal, which is consistent with the hypothesis that ODD might arise as a consequence of retinal nerve fiber congestion in the scleral canal.

Aim: To determine the efficacy of optical coherence tomography angiography (OCT-A) in diagnosing optic nerve head flow impairment in patients with optic nerve drusen., Methods: Patients affected by optic-nerve head drusen (ONHD) attending the Eye Clinic of the Federico II University of Naples were enrolled in this prospective case series between October 2015 and October 2016. Each patient underwent evaluation of best corrected visual acuity (BCVA), Goldman applanation tonometry, slit-lamp biomicroscopy, fundus examination, standard visual-field testing (perimetry), spectral domain (SD)-OCT and OCT-A., Results: Thirteen patients (6 females and 7 males with a mean age of 22.05 ± 7.54 years) with ONHD (19 eyes) were enrolled. Mean BCVA was 0.16 ± 0.21 LogMar and mean intraocular pressure was 15.68 ± 1.66 mm Hg. The control group constituted 16 individuals (24 eyes). Both ganglion cell complex (GCC) and retinal nerve fiber layer (RNFL) parameters were lower in patients than in controls. Similarly, the flow index (U = 134, p = 0.021) and vessel density (U = 90, p = 0.001) were significantly lower in eyes affected by ONHD than in normal eyes. Visual-field parameters did not differ between the 2 groups. GCC parameters were significantly correlated with OCT-A parameters (p < 0.05). No correlation was found between RNFL and OCT-A parameters., Conclusions: Our data suggest that OCT-A could be an objective method, helpful in the analysis of flow changes in patients with ONHD., (© 2017 S. Karger AG, Basel.)

In these conditions, drusen are present in childhood, but patients are asymptomatic, with good vision, until their 40s or 50s. Drusen are seen at the macula, around the edge of the optic nerve and/or nasal to the disc, in a radiating pattern (in particular, temporal to macula, as in Figs. 18.1, 18.2, 18.3, 18.4 and 18.5). The periphery is usually spared. Drusen increase in size and number with age. Peripapillary drusen are a characteristic finding. Visual loss later in life is due to pigment hyperplasia, geographic atrophy, and choroidal neovascular membrane (Figs. 18.6 and 18.7). Variability in the clinical picture is common within families.

Purpose: The purpose of this study is to assess the relationships between optic nerve head drusen (ONHD) volume, retinal nerve fiber layer (RNFL) thickness and visual field (VF) loss., Methods: Patients with ONHD and no other ocular or systemic conditions that can affect RNFL or VF were enrolled. Serial enhanced depth imaging (EDI) optical coherence tomography (OCT) B-scans of the optic nerve head (interval between scans, ~30 μm) were obtained from each participant. ONHD volume was calculated for each eye by delineating the ONHD masses in each OCT B-scan using 3-dimensional reconstruction software., Results: A total of 47 eyes (28 patients) with ONHD were included (mean age, 57±16 y). ONHD volume varied considerably [0.265±0.227 (range, 0.005 to 0.855)] mm. Linear and quadratic regression analyses demonstrated that ONHD volume is significantly associated with both global average RNFL thickness (linear R=0.531, quadratic R=0.557; P<0.001) and VF mean deviation (linear R=0.519, quadratic R=0.522; P<0.001). ONHD were most prevalent in the nasal quadrant (46 eyes, 98%), followed by superior, inferior and temporal quadrants [35 (74%), 30 (64%), and 16 (34%) eyes respectively]. The proportion of eyes with OCT RNFL defects (81%; 38/47 eyes) was significantly greater than that with VF defects (60%; 28/47 eyes) (P<0.001). RNFL defects were detected in 10 of the 19 eyes with no VF defects. RNFL defects were detected in all 28 eyes with VF defects., Conclusions: ONHD volume generally correlates with structural and functional optic nerve damage.

Optic disc drusen may be a cause of visual field defects and visual loss. The mechanism by which this occurs is unclear. We report a patient who developed decreased vision in the right eye and was found to have a heavy burden of superficial optic disc drusen. Optical coherence tomography (OCT) confirmed focal retinal nerve fiber layer thinning that corresponded with the distribution of drusen. OCT angiography, with superficial laminar segmentation, showed focal capillary attenuation overlying the most prominent drusen. These findings demonstrate alterations in the superficial retinal capillary network associated with optic disc drusen.

Bilateral optic disc edema in a diabetic patient may be caused by diabetic papillopathy. We herein report on a patient with bilateral optic disc drusen simulating diabetic papillopathy. A 55-year-old patient with type 2 diabetes presented with decreased vision of 1-month. Diabetic papillopathy was initially considered as there was disc edema in both eyes with focal hemorrhages at the disc margin and mild visual loss. Ultrasound of the optic nerve head revealed optic disc drusen in both eyes and this was also confirmed by the control photograph. Optic nerve head drusen should be considered in the differential diagnosis of a diabetic patient presenting with disc edema.

Purpose: To describe findings and utility of optical coherence tomography angiography (OCTA) in optic nerve head drusen (ONHD)., Observations: A 57-year-old white man presented with a decrease in contrast sensitivity of the inferior visual field in both eyes. Clinical examination, visual fields, optical coherence tomography, fundus autofluorescence and OCTA revealed ONHD bilaterally. A focal decrease in vessel density within the localization of ONHD in both eyes was demonstrated suggesting a connection between those findings., Conclusions and Importance: This is the first report in which peripapillary vessel density is analyzed using OCTA technology for this entity. OCTA could confirm the diagnosis and has the potential to assist with the diagnosis and evaluation of progression of ONHD.

Purpose: To explore the applicability of multifocal visual evoked potentials (mfVEPs) for research and clinical diagnosis in patients with optic disc drusen (ODD). This is the first assessment of mfVEP amplitude in patients with ODD., Methods: MfVEP amplitude and latency from 33 patients with ODD and 22 control subjects were examined. Mean amplitude, mean inner ring (IR) amplitude (0.87-5.67° of visual field) and mean outer ring amplitude (5.68-24° of visual field) were calculated using signal-to-noise ratio (SNR) and peak-to-peak analysis. Monocular latency was calculated using second peak analysis, while latency asymmetry was calculated using cross-correlation analysis., Results: Compared to normals, significantly decreased mean overall amplitude (p < 0.001), IR amplitude (p < 0.001) and outer ring amplitude (p < 0.001) were found in ODD patients when using SNR. An overall monocular latency delay of 7 ms was seen in ODD patients (p = 0.001). A significant correlation between amplitude and automated perimetric mean deviation as well as retinal nerve fibre layer thickness was found (respectively, p < 0.001 and p = 0.003). The overall highest correlation was found in this order: outer ring, full eye and IR. In the control group, SNR intersubject variability was 17.6% and second peak latency intersubject variability was 2.8%., Conclusion: Decreased mfVEP amplitude in patients with ODD suggests a direct mechanical compression of the optic nerve axons. Our results suggest that mfVEP amplitude is applicable for the assessment of optic nerve dysfunction in patients with ODD., (© 2017 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Purpose: Optic disc drusen (ODD) is hyaline deposits in the optic nerve head seen in 1-2% of the population. Long-term evolution of ODD anatomy and visual field defects in ODD patients is a key factor for learning more about pathophysiology and prognosis of the condition. With a median follow-up period of 56 years, this is the first study that evaluates superficial optic disc anatomy and visual fields in patients with ODD over a life span., Methods: Observational case series investigating progression of superficial optic disc anatomy and visual fields in ODD patients. Eight patients with hereditary ODD were included., Results: Mean age at initial and follow-up examination was, respectively, 16.8 and 73.3 years. The median follow-up time was 56 years. A minimal or non-existing change in superficial ODD anatomy (size and number) was seen in 10 of 12 eyes. There was a tendency towards more anatomical change in subjects younger at first examination. A 27% decrease in Goldmann perimetric visual field area (cm 2 ) was found between initial and follow-up examinations., Conclusion: Minimal or no change in superficial optic disc anatomy and visual fields in ODD patients oldest at the initial examination suggests that anatomical progression of ODD in patients with hereditary ODD happens primarily before adulthood., (© 2016 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Purpose: To examine long-term data on optic disc drusen (ODD) from an outpatient hospital series that indicated more cases with advanced visual field constriction than is apparent from other clinical reports. The underlying pathophysiology is discussed, also with regard to enlarged blind spot, which, in view of the small disc at risk, may seem a paradox., Methods: This is an observational retrospective study on an eye clinic series (n = 49), focusing on visual acuity, kinetic/static perimetry, and longitudinal trends, to include the question of eventual visual incapacity., Results: Forty-nine patients (32 female and 17 male; bilateral ODD in 45) aged 5-76 years (median age 29 years for both sexes) were included in the study. Observation time was 1-54 years, with serial data recorded over at least 3 years in 25 patients. Visual field defects were found in 32 patients, with ODD considered responsible for the visual field defects demonstrated. Advanced unilateral concentric constriction (for the largest Goldmann object) was recorded in 10 patients, and bilaterally in 2. With regard to nonexplanatory side diagnoses, 2 patients had pituitary adenoma, 1 had a cavernous sinus meningioma, and 1 had neurosurgery for an arachnoid cyst., Conclusions: We found more cases of marked visual field constriction than reported in other clinical series. A few such cases appeared acute and vascular, but the main trend was clinically quiet over time. All 49 patients could manage visually in daily life.

Purpose: Optic disc drusen (ODD) are found in up to 2.4% of the population and are known to cause visual field defects. The purpose of the current study was to investigate how quantitatively estimated volume and anatomic location of ODD influence optic nerve function., Methods: Anatomic location, volume of ODD, and peripapillary retinal nerve fiber layer and macular ganglion cell layer thickness were assessed in 37 ODD patients using enhanced depth imaging optical coherence tomography. Volume of ODD was calculated by manual segmentation of ODD in 97 B-scans per eye. Anatomic characteristics were compared with optic nerve function using automated perimetric mean deviation (MD) and multifocal visual evoked potentials., Results: Increased age (P = 0.015); larger ODD volume (P = 0.002); and more superficial anatomic ODD location (P = 0.007) were found in patients with ODD visible by ophthalmoscopy compared to patients with buried ODD. In a multivariate analysis, a worsening of MD was significantly associated with larger ODD volume (P < 0.0001). No association was found between MD and weighted anatomic location, age, and visibility by ophthalmoscopy. Decreased ganglion cell layer thickness was significantly associated with worse MD (P = 0.025) and had a higher effect on MD when compared to retinal nerve fiber layer thickness., Conclusions: Large ODD volume is associated with optic nerve dysfunction. The worse visual field defects associated with visible ODD should only be ascribed to larger ODD volume and not to a more superficial anatomic ODD location.

Purpose: Enhanced depth imaging (EDI) spectral-domain optical coherence tomography (SD OCT) has been recognized as the most sensitive tool to diagnose optic nerve head drusen (ONHD). The relationship between OCT characteristics and visual loss has not been well documented. This study compares EDI SD OCT-determined morphologic characteristics of drusen in eyes with or without visual field (VF) defects., Design: Descriptive study of patients attending the neuro-ophthalmology service of Moorfields Eye Hospital between January 2013 and October 2014., Subjects: Patients with diagnosed ONHD and EDI SD OCT imaging of the optic nerve head., Methods: Eyes with and without VF defects were compared with regard to retinal nerve fiber layer (RNFL) thickness, drusen morphology, size, extent, visibility on funduscopy, ultrasound, and fundus autofluorescence., Main Outcome Measures: Difference in OCT characteristics of ONHD between patients with or without VF defects., Results: Of 38 patients, 69 eyes with ONHD were included. Thirty-three eyes had a normal VF with average mean deviation (MD) -0.96 (±1.2) dB and pattern standard deviation (PSD) 1.6 (±0.3) dB (group I), and 36 eyes had VF defects with MD -13.7 (±10.4) dB and PSD 7.2 (±3.6) dB (group II). Mean global RNFL thickness was 62 (±20.9) μm in the latter group and 99.0 (±12.9) μm in group I. In group I, the predominant drusen type was peripapillary drusen, of variable size. In group II, most eyes had confluent (P < 0.02) and large (>500 μm; P < 0.003) drusen, and drusen were more commonly visible on funduscopy (P = 0.001), ultrasound (P = 0.013), and autofluorescence (P = 0.002). Differences between the 2 groups reached statistical significance in a clustered analysis. RNFL thinning and autofluorescence showed relative sparing of the temporal sector. Sixty-four percent of patients with a VF defect in 1 eye also had a VF defect in their fellow eye., Conclusions: Drusen size and drusen type as classified by OCT morphologic characteristics are significantly different in patients with or without VF defects. Confluent, large, and autofluorescent drusen were more commonly found in patients with VF defects. These findings may assist in clarifying how drusen give rise to visual loss, which is currently not known., (Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Optic disk drusen occur in 0.4% of children and consist of acellular intracellular and extracellular deposits that often become calcified over time. They are typically buried early in life and generally become superficial, and therefore visible, later in childhood, at the average age of 12 years. Their main clinical significance lies in the ability of optic disk drusen, particularly when buried, to simulate true optic disk edema. Misdiagnosing drusen as true disk edema may lead to an invasive and unnecessary workup for elevated intracranial pressure. Ancillary testing, including ultrasonography, fluorescein angiography, fundus autofluorescence, and optical coherence tomography, may aid in the correct diagnosis of optic disk drusen. Complications of optic disk drusen in children include visual field defects, hemorrhages, choroidal neovascular membrane, nonarteritic anterior ischemic optic neuropathy, and retinal vascular occlusions. Treatment options for these complications include ocular hypotensive agents for visual field defects and intravitreal anti-vascular endothelial growth factor agents for choroidal neovascular membranes. In most cases, however, children with optic disk drusen can be managed by observation with serial examinations and visual field testing once true optic disk edema has been excluded., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Purpose: To evaluate the dynamic remodeling of drusen in subjects with unilateral neovascular age-related macular degeneration (AMD) receiving a three-year course of oral docosahexaenoic acid (DHA) or placebo., Setting: Institutional setting., Methods: Three hundred subjects with age-related maculopathy and neovascular AMD in the fellow eye were randomly assigned to receive either 840 mg/day DHA or placebo for 3 years. Main outcome measures of this post-hoc sub-group analysis were progression of drusen number, total diameter, and total area on fundus photography, and their association with DHA supplementation, socio-demographic and genetic characteristics., Results: Drusen progression was analyzed in 167 subjects that did not develop CNV (87 that received DHA and 80 that received placebo). None of the drusen remodeling outcomes were significantly associated with DHA supplementation. Total drusen diameter reduction in the inner subfield was significantly associated with age (older patients: r = -0.17; p = 0.003). Women showed a tendency to decreased total drusen diameter in the inner subfield with CFH polymorphism (p = 0.03), where women with TT genotype tended to have a greater reduction in drusen diameter than other genotypes (CC and CT). Drusen area in the inner subfield was more reduced in older patients (r = -0.17) and in women (p = 0.01). Drusen number showed no significant trends., Conclusions: Dynamic drusen remodeling with net reduction in drusen load over three years was found in patients with exudative AMD in one eye and drusen in the other eye (study-eye). This reduction was correlated with increased age and female gender, and showed a tendency to be influenced by CFH genotype, but did not appear to be affected by DHA supplementation., Trial Registration: Controlled-Trials.com ISRCTN98246501.

Purpose: To present a case report with "unclear" and sudden decrease of left eye visual acuity and bilateral visual fields defects., Methods: A case report., Case Presentation: A 66-year-old woman was referred to our Center of Neuroophthalmology and Orbitology by a neurologist for a history of sudden decrease of visual acuity of her left eye 3 years ago. From September 2009, she was examined at various and not only ophthalmology departments. One by one the optic nerve neuritis, traumatic, compressive or toxic neuropathy and also nutritive neuropathy because of vitamin B(12) deficiency were excluded. The patient underwent also a genetic examination for Lebers hereditary optic nerve neuropathy, but this diagnosis was not confirmed. On magnetic resonance imaging, an atrophy of both optic nerves was described, with no further progression found during the follow-up examination after one year. In available patients medical records we found out that on optical coherence tomography scans optic disc drusen of the both eyes are visible, but this wasnt described in the records. Also, an examination of Visual Evoked Potential was performed - this confirmed the diagnosis of optic disc drusen. However, our patient was further examined for visual lost of the left eye. At the time of presentation (January, 2014), her best-corrected visual acuity of the right eye was 0.5, and counting fingers at 50 cm distance with correct light projection in the left eye. Static perimetric examination demonstrated bilateral and concentric narrowing of visual fields. The eyes were parallel, with no limitation of their movements in any direction. The patient was without diplopia, the direct pupil reactions to the light were sluggish bilaterally, and anterior segments of both eyes were with no pathologies. Examination of the fundus revealed bilateral findings of pale optic disc with absent optic cup and indistinct "lumpy" margins. Waxy pearl-like irregularities of the papila of both eyes were visible even without pupil dilatation. Bilateral optic disc drusen were confirmed by ultrasonography, fundus autofluorescence and spectral-domain optical coherence tomography., Conclusion: Optic disc drusen are often asymptomatic, frequently it is an accidental finding during the biomicroscopy of fundus due to ordinary eye examination. Rarely, optic disc drusen can cause blood circulation failure on the optic disc with typical defects of the visual field. Thats why we shouldnt forget the optic disc drusen in the differential diagnosis considerations.

Optic nerve head drusen (ONHD) are incidental ophthalmologic finding in the optic nerve. Patients with ONHD are often asymptomatic, but sometimes present with transient visual obscuration's (TVO), the reported incidence of which is 8.6%. Optic nerve head drusen are of two types: Superficial; visible and deep. The deep-buried drusen mimic papilledema. Because of the varied presentation deep-buried drusen pose a diagnostic challenge to the ophthalmologists. In young patients, they are mistaken for papilledema as it is clinically difficult to detect a buried drusen in the optic nerve head, but are seen on the surface with aging as the retinal nerve fiber layer thins out. They are observed as pale yellow lesions more often located towards the poles. Clinical examination aided with diagnostic tests like computed tomography (CT) orbits and ultrasound B scan can help establish the diagnosis. Herein, we report a rare case of optic nerve head drusen in a young lady, who presented with loss of vision and clinical evaluation and investigations suggested ONHD with anterior ischemic optic neuropathy.

Purpose: (1) To characterize the retrobulbar circulation in patients with optic disc drusen (ODD) using colour Doppler imaging; (2) to explore the differences in retrobulbar hemodynamics in patients with primary open-angle glaucoma (POAG)., Methods: Retrospective analysis using three diagnostic groups: patients with ODD, age-matched healthy controls and age- and visual defect-matched patients with POAG. Subjects with history of ocular trauma or ocular diseases including vascular-related diseases were excluded. Kruskal-Wallis and Spearman's correlation tests were performed to compare and explore the correlations between the hemodynamic parameters and visual field damage., Results: Sixty patients were included and equally divided between the three groups. Patients with ODD had lower systolic and diastolic flow velocities in the central retinal artery (CRA) when compared to healthy individuals, but no difference was found with the glaucoma group (p < 0.005 versus healthy; p range 0.30-0.37 versus POAG). The systolic shift in flow patterns correlated with the extent of visual field defect in ODD patients (p < 0.001, r = -0.78, confidence interval: -0.43 to -0.92), but not in POAG (p = 0.73). Short ciliary arteries from ODD patients had lower mean systolic flow velocities when compared to both healthy individuals and patients with POAG (p < 0.01 versus healthy; p ≤ 0.04 versus POAG). The ophthalmic artery in ODD group had significantly higher mean blood velocities than in the POAG (p = 0.04), while showing a significant overlap in Doppler waveform variables to the control group (p range 0.08-0.97)., Conclusions: Similar to patients with glaucoma, individuals with ODD have low blood flow velocities in the vessels around the optic nerve head. Unlike patients with glaucoma, however, their CRA's blood flow velocity patterns correlate with the extent of the visual field defects., (© 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Objective: To evaluate anatomical and functional impairment of the retinal nerve fiber layer (RNFL) using optical coherence tomography (OCT) and automated perimetry in patients with optic nerve head drusen (ONHD)., Materials and Methods: Sixty-six eyes (66 patients) were studied with ONHD - confirmed by ultrasound B scan - and 70 eyes (70 subjects) of healthy control subjects. ONHD cases were categorised as visible or hidden. Average RNFL thickness and measurements in terms of the quadrants were analysed using both time-domain optical coherence tomography (TD-OCT) and spectral-domain optical coherence tomography (SD-OCT). Anatomical and visual field alteration of RNFL between visible and hidden ONHD and control groups were compared., Results: Average RNFL thickness in ONHD patients was 94 μm (TD-OCT) and 88 μm (SD-OCT), and in controls 107 μm (TD-OCT) and 96 μm (SD-OCT), with statistically significant differences between both OCTs. All quadrants analysed showed significant differences except the temporal quadrant. The differences were not significant between hidden drusen and controls.Visual field examination in ONHD showed alterations in 56 %. Alterations were greater in visible drusen in relation to non-visible drusen, but there were no significant differences.The association between RNFL defects in superior, inferior and temporal quadrants and visual field defects showed a statistical relation with visible ONHD, but not in hidden ONHD., Conclusions: ONHD caused anatomical and functional damage of the RNFL, with a clear association between the alteration in ONHD and visual field defects in visible drusen cases.

Characteristics of ocular blood flow (OBF) in primary open-angle glaucoma (POAG) in eyes with optic disc drusen have been investigated. The study enrolled 21 patient (35 eyes) with optic disc drusen, of which 7 (8 eyes) were diagnosed with POAG. Besides the standard tests, the ophthalmological assessment included evaluation of OBF (flowmetry) and an individual normal range of intraocular pressure (IOP). The results showed that optic disc drusen are not associated with OBF changes. Concomitant POAG might be suspected in a patient with optic disc drusen whose OBF is significantly decreased and IOP is above the individual normal range. Differentiation of morphofunctional changes in chronic optic neuropathy, which might be due to either glaucomatous optic neuropathy or optic disc drusen, is complicated when actual IOP lies within the average normal range. Ocular blood flow evaluation by means of flowmetry with calculation of an individual normal range of IOP has been demonstrated as a highly effective predictor of concomitant POAG in patients with optic disc drusen.

Purpose: To evaluate optic disc drusen, extracellular protein deposits known to contain numerous aggregates of mitochondria, using multimodal modalities featuring optical coherence tomography (OCT) and autofluorescence imaging., Design: Retrospective observational case series., Methods: Eyes with optic nerve drusen were examined with enhanced depth imaging (EDI)-OCT, swept source OCT, and fundus autofluorescence using a fundus camera., Results: Twenty-six eyes of 15 patients with optic disc drusen were evaluated. EDI-OCT and swept source OCT showed multiple optic disc drusen at different levels; most were located immediately anterior to the lamina cribrosa. The drusen were ovoid regions of lower reflectivity that were bordered by hyperreflective material, and in 12 eyes (46.2%) there were internal hyperreflective foci. The mean diameter of the optic disc drusen as measured in OCT images was 686.8 (standard deviation ± 395.2) μm. There was a significant negative correlation between the diameter of the optic disc drusen and the global retinal nerve fiber layer thickness (r = -0.61, P = .001). There was a significant negative correlation between proportion of the optic disc drusen area occupied by optic nerve drusen as detected by autofluorescence imaging and the global retinal nerve fiber layer thickness (r = -0.63, P = .001)., Conclusions: Deeper-penetration OCT imaging demonstrated the internal characteristics of optic disc drusen and their relationship with the lamina cribrosa in vivo. This study also showed that both the larger the drusen and the more area of the optic canal occupied by drusen, the greater the associated retinal nerve fiber layer abnormalities., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Purpose: The relationship between clinical severity of age-related macular degeneration (AMD) and macular function has not been well established. In this study, we investigated the correlation between clinical severity and functional deficits as detected by static and flicker perimetry., Methods: This cross-sectional study consisted of 279 AMD subjects and 24 control participants. AMD subjects were allocated into 1 of 10 AMD severity groups depending on the status of the designated study eye and the fellow eye, as assessed by color fundus photographs. Visual acuity, and static and flicker perimetry were tested on one eye during the same session. The geometric means, SDs, and percentage of abnormal eyes of static and flicker sensitivity of each AMD severity group were determined and compared., Results: The pattern of change in sensitivity and percentage of abnormal eyes for static perimetry across all AMD severity groups were similar to flicker perimetry. Eyes with drusen > 125 μm (P[static] = 0.018, P[flicker] = 0.024), drusenoid epithelial detachment (P[static and flicker] < 0.001) and noncentral geographic atrophy (GA; P[static and flicker] < 0.001) had significant reductions in static and flicker sensitivities compared to normal eyes. Static (β-coefficient -1.59, 95% confidence interval [CI] -4.78-1.60) and flicker (β-coefficient -1.29, 95% CI -4.66-2.08) sensitivities declined at a similar rate in eyes that showed clinical signs of progression., Conclusions: Static and flicker perimetry were affected similarly across the spectrum of AMD severity, and methods appeared to be valid techniques for assessing retinal sensitivity in AMD once drusen > 125 μm are present, but before the development of late AMD.

Purpose: The aim of this study was to investigate the relationship between clinical macular changes and retinal function in age-related macular degeneration (AMD)., Methods: We recruited 357 participants with visual acuity of better than 20/60 in the study eye, including 64 individuals with normal fundi and 293 AMD participants classified into 12 subgroups based upon the International Classification and Grading System. Visual function in the study eye was assessed using two steady-state tests (achromatic 14 Hz flicker [F14Hz] and isoluminant blue color [BCT]) and two adaptation measurements (cone photo-stress recovery rate [CRR] and rod dark adaptation recovery rate [RRR]). The groups were compared on their average psychophysical measurements and ranked according to functional deficiency., Results: Both adaptation parameters were significantly abnormal when only hard and/or intermediate drusen were evident (compared to controls, P < 0.023) and yielded considerably worse outcomes in cases with more advanced fundus changes (P < 0.001), but provided limited ability to discriminate between these cases (linear trend, CRR t = 0.68, P = 0.50 and RRR t = 1.76, P = 0.08). Steady-state measurements, however, declined gradually along the entire hierarchy of fundus changes (linear trend, F14Hz t = 10.16, P < 0.001 and BCT t = 11.19, P < 0.001) with F14Hz being able to detect significant functional change as early as in the intermediate drusen group, when compared to controls (P = 0.003)., Conclusions: Steady state thresholds (F14Hz and BCT) and clinical signs showed significant concordance across the spectrum of early AMD fundus changes. This suggests that these tests may be an effective tool for monitoring progression of AMD to supplement clinical grading.

Purpose: The purpose of this study was to describe the association of acquired vitelliform lesion (AVL) and large drusen in patients with non-neovascular age-related macular degeneration., Methods: A retrospective review of clinical examination and multimodal imaging data of patients with AVL and large drusen seen over a 12-month period was performed. Acquired vitelliform lesion was defined as subretinal accretion of hyperautofluorescent yellowish material within the macular region not due to vitelliform macular dystrophy. Large drusen were diagnosed by the presence of mounded deposits in the subretinal pigment epithelial space between the retinal pigment epithelium and the Bruch membrane using multimodal imaging analysis (color photography, autofluorescence, and spectral domain optical coherence tomography)., Results: Thirteen eyes of 9 white patients with a mean age of 74 years were observed to have AVL associated with large drusen. The median visual acuity was 20/60. All AVLs were hyperautofluorescent and were located in the subretinal space between the retinal pigment epithelium and the photoreceptor inner segment/outer segment junction. The AVL in this series had similar color, autofluorescence, and optical coherence tomographic findings as the AVL seen in association with cuticular drusen and subretinal drusenoid deposits., Conclusion: Acquired vitelliform lesions, which have previously been related to cuticular drusen and subretinal drusenoid deposits, can occur in association with large drusen. Abnormalities leading to drusen formation or processes that function in parallel to these may be causative in AVL formation.

Background: The fluorescein angiographic criteria for differentiating optic disc drusen (ODD) from optic disc edema have been unclear. We designed a study to identify distinguishing angiographic features of each and to apply them to cases where both drusen and edema were present., Methods: A computer search was performed for cases evaluated in a university academic neuro-ophthalmology consultative practice and coded as ODD; all cases were reviewed, and those with fluorescein angiography were selected for further study. Cases were classified as either buried or surface ODD. Ten cases with papilledema were selected for comparison. Eight cases of coexistent drusen and edema were identified. Autofluorescence, early leakage, early blockage, early and late nodular staining, late peripapillary staining, and late leakage were tabulated., Results: Two hundred sixteen cases of ODD were identified; 62 (116 eyes) had adequate fluorescein angiography for study. Twenty-three eyes were classified as surface ODD; 90% demonstrated early nodular staining of the disc, with late nodular staining in 90% and late circumferential peripapillary staining in 22%; autofluorescence was visible in 93% with preinjection photography. Eighty-three eyes were classified as buried ODD; 25% demonstrated early nodular staining, with late nodular staining in 29% and late circumferential peripapillary staining in 80%; autofluorescence was visible in 12% of those with preinjection photography. In 9 eyes, buried ODD were present with superimposed true edema. In these eyes, early dye leakage, late nodular hyperfluorescence, and late leakage were present., Conclusion: Early and late fluorescein angiographic features reliably distinguish ODD from edema and may be particularly useful when the conditions coexist.

Background: Several studies have suggested racial differences in the prevalence of optic nerve head drusen (ONHD). We aimed to determine the percentage of patients with ONHD who are black and to describe the clinical, ophthalmoscopic, and perimetric findings in these patients., Methods: We conducted a retrospective chart review of all patients with ONHD seen at our institution between 1989 and 2010. Only black patients with ONHD confirmed on either funduscopy or B-scan ultrasonography were included. Demographic and clinical findings in these patients were recorded and analyzed., Results: Of the 196 patients with confirmed ONHD, 10 (5.1%) were black. This included 7 females and 3 males with ages ranging from 8 to 61 years. Six of the 10 patients had bilateral ONHD. The ONHD were buried in 11 of 16 eyes and exposed in 5 of 16 eyes. Fifteen of 16 eyes with ONHD had small cupless optic nerve heads. Visual fields were normal in 4 of 16 eyes with ONHD. In the remainder, visual field defects included an enlarged blind spot (5 eyes), constricted field (5 eyes), nasal defect (2 eyes), central defect (1 eye), and generalized depression (1 eye). Visual field defects were present in 4 of 5 eyes (80%) with exposed ONHD and 8 of 11 eyes (72.7%) with buried ONHD. None of the patients were related, and none of their examined family members had exposed ONHD on funduscopic examination., Conclusions: ONHD are rare in blacks, possibly due to the presence of a larger cup-to-disc ratio or a lack of predisposing genetic factors. Visual field defects are common in black patients with both exposed and buried ONHD.