Optic Disc Drusen Research Articles

Association of optic disc drusen and small scleral canals - A systematic review and meta-analysis.

The pathophysiology of optic disc drusen (ODD) has long been discussed. According to one leading theory, they develop from calcified mitochondria extruded from axons compressed by an unusually small scleral canal. To examine this hypothesis, we conducted a systematic review and meta-analysis evaluating the scleral canal size in patients with ODD (PO) in comparison to healthy subjects (HS). We searched MEDLINE, Cochrane Central, EMBASE and gray literature to identify relevant articles. A subgroup analysis compared patients with buried ODD (POb) and patients with visible ODD (POv). The study was registered with the International Prospective Register of Systematic Reviews on December 9th, 2022 (Registration: CRD42022375110). We included fifteen articles in the review and fourteen in the meta-analysis. The mean diameter of the scleral canal computed using both fundus photography (DF) and spectral-domain with enhanced depth imaging optical coherence tomography (DO-EDI) was significantly smaller in PO compared to HS (standardized mean difference -1.21 [-1.85 to -0.56] and -0.66 [-0.94 to -0.37] respectively). DO-EDI, but not DF, was higher in POv as compared to POb. When including all-generation OCT in the analysis, the difference between POv and POb, but not between PO and HS, remained. Several intertwined hypotheses can explain these subgroup and sensitivity results: an enlargement of the canal as the ODD grow, an enlargement with time, or a measurement bias (artefactual enlargement of the canal due to a posterior shadow on OCT). In conclusion, this review and meta-analysis further supports the role of a small scleral canal in the development of ODD.

MFRP GENE MUTATION: NOVEL MANIFESTATION AND INSIGHTS ON PATHOPHYSIOLOGY - A CASE REPORT.

The aim of this study is to delineate a novel manifestation linked to the mutation of the MFRP gene: a macular neovascular membrane (MNV). The authors provide detailed insights into this rare condition, shedding light on a previously unreported observation and proposing potential pathophysiological mechanisms. A single case report from a tertiary center in Brazil was conducted for evaluation. A female patient presenting with microphthalmos, retinal pigmentary alterations, and optic disc drusen, which had previously been misdiagnosed as Intracranial Idiopathic Hypertension (IIH), was diagnosed with MNV and inherited retinal dystrophy. Genetic testing confirmed the presence of an MFRP mutation, revealing novel manifestation of heterozygous gene mutations (c.498del p. Asn167Thrfs*25 and c.650G>A p. Gly217Glu). MNV in the context of retinal dystrophies is a rare occurrence and has not been previously associated with an MFRP mutation. The documentation of this novel observation is crucial for enhancing our understanding of the potential disease presentations, aiding in diagnosis, elucidating the underlying pathophysiology, and guiding appropriate management strategies in such cases.

Axonal Energy Crisis and Calcium Phosphate Dysregulation as Pathogenesis of Optic Disc Drusen.

Soft tissue ectopic calcification is due to abnormal accumulation of calcium and phosphate outside the bone. It is the result of the failure of a complex, active, and highly regulated process - much of which is still not well understood. Some of our understanding of ectopic calcification come from studies on diseases such as atherosclerosis, aortic valve disease and kidney stone disease. In the eye, the most common causes of visual defects due to ectopic calcification include optic disc drusen (ODD) and age-related macular degeneration (AMD). In ODD, ectopic calcification occurs only in the most anterior, unmyelinated portion of optic nerve - the sole output of the eye and particularly susceptible to hypoxic and metabolic stress. In this article, we review the effects of hypoxia on mitochondrial function and calcium regulation and delineate the key processes likely involved in ectopic calcification. We propose a working hypothesis for ODD centering on the role of hypoxia-induced calcium and phosphate overload, mitochondrial dysfunction and osteogenic differentiation, leading to hydroxyapatite deposition and biomineralization.

Optical Coherence Tomography and Optical Coherence Tomography Angiography in Optic Nerve Disorders

Optic nerve disorders encompass a wide range of diseases. While it may be an isolated disease, such as optic disc drusen, it may also occur as a symptom of pathology in the central nervous system, such as multiple sclerosis. Optical coherence tomography (OCT) is an important auxiliary test used in optic nerve disorders as it allows cross-sectional imaging of the retina and optic nerve head at high resolution. OCT is used in the diagnosis of optic nerve disorders, evaluation of response to treatment, and prediction of visual prognosis by measuring retinal layers such as the ganglion cell layer (GCL) and retinal nerve fiber layer (RNFL).

Clinical correlation of optic nerve head analysis performed by SD-OCT in children with pseudopapilledema and papilledema

PurposeTo investigate some diagnostic indicators in optic nerve head (ONH) analysis of children with ‘Pseudopapilledema’ and ‘Papilledema’ by Spectral Domain Optical Coherence Tomography (SD-OCT). MethodsMedical records of 52 children with optic disc swelling, who were followed up by the departments of pediatric neurology and ophthalmology between May 2018 and May 2019 were reviewed retrospectively. Cases were classified as group 1 (Papilledema secondary to Idiopathic Intracranial Hypertension) including 54 eyes of 27 cases, group 2 (Pseudopapilledema secondary to bilateral optic disc drusen) including 50 eyes of 25 cases and control group. Three-dimensional imaging of ONH, peripapillary retinal nerve fiber layer (RNLF) thickness, Bruch's membrane opening height in the nasal respectively temporal quadrant (BMHN, BMH-T) levels were measured by SD-OCT and B-mode ocular ultrasonography data of all cases were evaluated. ResultsWhen RNFL levels were compared between groups, nasal RNFL levels were found to be significantly higher in group 1 cases compared to group 2 (p < 0.001). In 3D imaging of the ONH among group 1 patients, the mean height of the apex in disc swelling was significantly higher than that of group 2 (p = 0,024). The apex in disc swelling was mostly observed to be localized at the middle and had a diffuse swelling pattern in group 1; whereas, in group 2, the it was localized mostly at the nasal quadrant. This variation was statistically significant (p < 0.001). When, Bruch's membrane opening height in the nasal respectively temporal quadrant (BMHN, BMH-T) levels were compared, the measurements obtained were found to be significantly higher in group 1 (p = 0,050 and p = 0,003 respectively). ConclusionNasal RNFL values of SD-OCT, Bruch's membrane opening height in the nasal respectively temporal quadrant (BMHN, BMH-T) levels, the location of the apex in disc swelling obtained by 3D analysis of the ONH are found to be potential diagnostic parameters when combined with clinical findings. It is important that the nasal quadrant elevation, where the highest peak in 3D imaging was measured, was higher in the papilledema group. The elevation of the optic disc peak in 3D imaging can be used as a parameter to help clinicians distinguish between optic disc drusen (ODD) and papilledema.

Non-arteritic anterior ischemic optic neuropathy in Black patients

Prior studies have shown that non-arteritic anterior ischemic optic neuropathy (NAION) is uncommon in persons of Black race compared to those of White race, but the reasons behind this discrepancy remain unknown. Our goal was to analyze the systemic and ocular features of Black NAION patients compared to White patients. Retrospective cross-sectional study METHODS: Self-reported race was collected from all NAION patients seen between 2014-2022 from a single US neuro-ophthalmology service. All Black NAION patients and a randomly selected sample of White NAION patients were included. We collected information on hypertension, hyperlipidemia, diabetes mellitus, hypothyroidism, obesity, ischemic heart disease, atrial fibrillation, pacemaker insertion, chronic kidney disease, dialysis, anemia, obstructive sleep apnea, deep vein thrombosis, stroke, use of phosphodiesterase inhibitors, and smoking status. We reviewed color fundus photographs and optic nerve OCT images to assess cup-to-disc ratio and document the presence of optic disc drusen. Counterfactual random forest was used to estimate associations for each characteristic of interest by race controlling for the other exposures. We included 32 Black NAION patients (mean age 57 ± 11 years, 38% men) and 69 of 432 White patients (mean age 57 ± 15 years, 59% men). Time between NAION onset and neuro-ophthalmic examination was significantly longer in Black patients (1.5 to <3 months: OR 4.07, P = 0.03; 6 to <12 months: OR 6.05, P = 0.007). Chronic kidney disease (OR 7.53, P = 0.003) and hemodialysis (OR 13.69, P = 0.02) were significantly more frequent in Black patients. No significant differences in cup-to-disc ratio were present (0.15 to <0.25: OR 2.83, P = 0.09; 0.25 to <0.35: OR 0.56, P = 0.46; ≥0.35: OR 0.66, P = 0.44). Referral delay occurs in Black patients with NAION, likely due to its relative rarity and concern for alternate diagnoses. Black NAION patients were substantially more likely to have chronic kidney disease and be on dialysis than White patients. Despite known racial differences in cup-to-disc ratio, we found no difference between Black and White NAION patients, suggesting that the underlying proposed compartment mechanism is the same between races.

Are Peripapillary Hyperreflective Ovoid Mass-like Structures with an Elevated Optic Disc Still a Diagnosis Dilemma?

ObjectiveTo identify clinical characteristics that would help make or rule out the diagnosis of Idiopathic intracranial hypertension (IIH) in patients referred for papilledema (PE) with peripapillary hyperreflective ovoid mass-like structures (PHOMS) DesignA retrospective cohort study SubjectsAll patient referred for PE excluding PE with Frisén grade ≥ 3, optic neuritis, ischemic optic neuropathy, compressive optic neuropathy. Patients were divided into 2 groups:Group1= isolated PHOMSGroup2= PHOMS associated with IIH MethodsWe analyzed the location of PHOMS based on OCT-EDI and calculated their volume Main outcome MeasuresP RNFL,GCC, PHOMS’ volume Results154 patients (308 eyes) were included, mean age was 29 with female predominance (78%). PHOMS were associated to these etiologies : IIH(38.3%) isolated (35.7%), posterior uveitis (11%),optic disc drusen (ODD)(10%), and tilted optic disc (5%). An MRI was obtained in 83.1% of cases. More than half of the MRIs were interpreted as consistent with IIH. However, only 39.7% of these patients had confirmed IIH with 44.5% of sensitivity and 55.5% of sensibility. PHOMS were overrepresented in the nasal region (95.5%).The location of PHOMS in the superior and/ or inferior quadrant was significantly associated to IIH or optic dusc drusen, while their presence in the temporal or nasal sector was strongly associated to isolated lesions. PHOMS mean and median volume were 1.66 μm3 and 1.50 μm3 respectively. There was a significant difference in PHOMS volume with higher volume in IIH patients (p=0.0037). Follow up of these patients at 3 and 6 months demonstrated no significant changes in visual function, as per visual field mean deviation, and visual acuity measurements as well as Ganglion cell layer (GCL).Mean pRNFL, showed a decrease of -4.225 μm at 3 months and of –6.489 μm at 6 months, when compared to initial measurement independing of the etiology. ConclusionIsolated PHOMS should be considered as a distinct entity. In asymptomatic patients, PHOMS should be carefully studied. Nasal or temporal location, small volume, stable aspect over the course of weeks or months, are so suggestive of this entity. This strategy would considerably reduce the impact on patients’ anxiety and morbidity.

Impact of Diabetes on Visual Function in Veterans with Optic Disc Drusen: A Comparative Study

Optic disc drusen (ODD) are present in up to 2% of the general population. The presence of ODD can result in vision loss. This study investigated...

A Deep Learning Approach for Accurate Discrimination Between Optic Disc Drusen and Papilledema on Fundus Photographs.

Optic disc drusen (ODD) represent an important differential diagnosis of papilledema caused by intracranial hypertension, but their distinction may be difficult in clinical practice. The aim of this study was to train, validate, and test a dedicated deep learning system (DLS) for binary classification of ODD vs papilledema (including various subgroups within each category), on conventional mydriatic digital ocular fundus photographs collected in a large international multiethnic population. This retrospective study included 4,508 color fundus images in 2,180 patients from 30 neuro-ophthalmology centers (19 countries) participating in the Brain and Optic Nerve Study with Artificial Intelligence (BONSAI) Group. For training and internal validation, we used 857 ODD images and 3,230 papilledema images, in 1,959 patients. External testing was performed on an independent data set (221 patients), including 207 images with ODD (96 visible and 111 buried), provided by 3 centers of the Optic Disc Drusen Studies Consortium, and 214 images of papilledema (92 mild-to-moderate and 122 severe) from a previously validated study. The DLS could accurately distinguish between all ODD and papilledema (all severities included): area under the receiver operating characteristic curve (AUC) 0.97 (95% confidence interval [CI], 0.96-0.98), accuracy 90.5% (95% CI, 88.0%-92.9%), sensitivity 86.0% (95% CI, 82.1%-90.1%), and specificity 94.9% (95% CI, 92.3%-97.6%). The performance of the DLS remained high for discrimination of buried ODD from mild-to-moderate papilledema: AUC 0.93 (95% CI, 0.90-0.96), accuracy 84.2% (95% CI, 80.2%-88.6%), sensitivity 78.4% (95% CI, 72.2%-84.7%), and specificity 91.3% (95% CI, 87.0%-96.4%). A dedicated DLS can accurately distinguish between ODD and papilledema caused by intracranial hypertension, even when considering buried ODD vs mild-to-moderate papilledema.

Effect of Intraocular Pressure Lowering Treatment on Peripapillary and Macular Vessel Density on Normotensive Eyes with Optic Disc Drusen: A Randomized Controlled Trial

ABSTRACT To evaluate the effect of intraocular pressure (IOP) reduction on peripapillary and macular vessel density parameters from optical coherence tomography angiography (OCT-A) in normotensive eyes with optic disc drusen (ODD). Randomized controlled trial, with 6 months of follow-up, including normotensive eyes with ODD divided into two groups: control group (lubricating eye drop) and case group (latanoprost 50mcg/ml). We used OCT-A to evaluate peripapillary and macular vessel density parameters. Data were collected at baseline and at 1, 3, and 6 months following the use of eye drops. This study included a total of 32 eyes (16 cases and 16 controls) from 19 patients. After 6 months, the group using latanoprost IOP reduced IOP to 10.8 ± 0.64 versus 13.5 ± 0.54 mmHg in the control group (p < 0.001). We observed significant changes in OCT-A vessel density peripapillary parameters. The total radial peripapillary capillary (RPC) density (%) at month 6, in the eyes using latanoprost was 55.1 ± 1.05% and control was 57.9 ± 0.88%, p = 0.033. However, no changes were observed in macular vessel density parameters as well as retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) thickness between groups after 6 months of using latanoprost. No sight-threatening events were observed during follow-up in either group. Until now there is no evidence that just lowering IOP can benefit normotensive patients with ODD. In fact, we observed a significant decrease in RPC vessel density after 6 months of IOP reduction using latanoprost, compared to the control group.

Clinical characteristics of peripapillary hyperreflective ovoid mass-like structures in myopic children.

To describe the characteristics of peripapillary hyperreflective ovoid mass-like structure (PHOMS) in myopic children and to investigate factors associated with PHOMS. This retrospective observational study included 101 eyes of 101 children (age ≤17y) with myopia. All included patients underwent comprehensive clinical examination. Optic nerve canal parameters, including disc diameter, optic nerve head (ONH) tilt angle, and border tissue angle were measured using serial enhanced-depth imaging spectral-domain optical coherence tomography (EDI-OCT). Based on the optic disc drusen consortium's definition of PHOMS, eyes were classified as PHOMS group and non-PHOMS group. PHOMS was categorized according to height. Sixty-seven (66.3%) eyes were found with PHOMS. Small PHOMS could only be detected by optical coherence tomography (OCT). Medium PHOMS could be seen with blurred optic disc borders corresponding to OCT. The most frequent location of PHOMS was at the nasosuperior (91%, 61 of 67 eyes) to ONH disc. The axial length and spherical equivalent were more myopic in the PHOMS group than in the non-PHOMS group (both P<0.001). ONH tilt angle was also significantly greater in PHOMS group than in non-PHOMS group [8.90 (7.16-10.54) vs 3.93 (3.09-5.25), P<0.001]. Border tissue angle was significantly smaller in PHOMS group than in non-PHOMS group [29.70 (20.90-43.81) vs 45.62 (35.18-60.45), P<0.001]. In the multivariable analysis, spherical equivalent (OR=3.246, 95%CI=1.209-8.718, P=0.019) and ONH tilt angle (OR=3.275, 95%CI=1.422-7.542, P=0.005) were significantly correlated with PHOMS. There was no disc diameter associated with PHOMS. In the linear regression analysis, border tissue angle was negatively associated with PHOMS height (β=-2.227, P<0.001). PHOMS is associated with optic disc tilt and optic disc nasal shift in myopia. Disc diameter is not a risk factor for PHOMS. The changes in ONH caused by axial elongation facilitated an understanding of the mechanism of PHOMS.

Prevalence Screening for Familial Optic Disc Drusen: A Cross-Sectional Study

ABSTRACT Optic disc drusen (ODD) may present in multiple individuals and generations within a family, indicating hereditary predisposition. Individuals are often unaware of their ODD, and consequently, the prevalence of ODD within families remains largely unknown. The aim of this study was to estimate the prevalence and consider the inheritance pattern of familial ODD and to investigate ODD-related symptoms and their association to ODD location and size. In this cross-sectional study, 22 ODD patients, aged 10 years or older, were included. Of these, 13 ODD probands had 24 family members participating. The presence, size, and anatomical location of ODDs and the presence of hyperreflective lines were ascertained using enhanced depth imaging optical coherence tomography (EDI-OCT) scan. Visual symptoms were ascertained, and these were correlated with ODD burden in terms of ODD location and size. Familial ODD was found in eight of the 13 screened families. Hyperreflective lines were present in all individuals with ODD, including both probands and their family members, and in seven out of the 14 family members without ODD. Visual symptoms were reported in 14–50% and associated significantly with superficial ODD location. We found familial ODD in eight of the 13 screened families. Our results aligned with the previously suggested autosomal dominant inheritance pattern with incomplete penetrance, assuming that hyperreflective lines represent a less expressed form of ODD. This emphasizes that ODD runs in families and supports the hypothesis that genetic factors may contribute to the etiology.

Prevalence, time course, and visual impact of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in pediatric patients with optic nerve pathologies

BackgroundPeripapillary hyperreflective ovoid masslike 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. MethodsThis 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. ResultsPHOMS were found in 7 of 2,582 of normal control eyes (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). ConclusionsPHOMS 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.

Diagnostic dilemma of papilledema and pseudopapilledema.

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 fluidthatcan 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. 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. 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. 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.

Optic Disc Drusen in Pseudoxanthoma Elasticum Are Associated with the Extent of Bruch's Membrane Calcification.

Background/Objectives: To assess the frequency, extent, localization and potential progression of optic disc drusen (ODD) and the correlation with the angioid streak (AS) length and retinal atrophy in patients with pseudoxanthoma elasticum (PXE). Methods: This retrospective study included patient data from a dedicated PXE clinic at the Department of Ophthalmology, University of Bonn, Germany (observation period from February 2008 to July 2023). Two readers evaluated the presence, localization, and the extent of the ODD on fundus autofluorescence (FAF) imaging at baseline and the follow-up assessments. Additionally, we measured the length of the longest AS visible at baseline and follow-up and the area of atrophy at baseline, both on FAF. Results: A total of 150 eyes of 75 PXE patients (median age at baseline 51.8 years, IRQ 46.3; 57.5 years, 49 female) underwent retrospective analysis. At baseline, 23 of 75 patients exhibited ODD in a minimum of one eye, resulting in an ODD prevalence of 30.7% in our cohort of PXE patients. Among these, 14 patients showed monocular and 9 binocular ODD that were localized predominantly nasally (46.9%). During the observational period (mean 97.5 ± 44.7 months), only one patient developed de novo ODD in one eye and one other patient showed a progression in the size of the existing ODD. The group of patients with ODD had significantly longer ASs (median 7020 µm, IQR 4604; 9183, vs. AS length without ODD: median 4404 µm, IQR 3512; 5965, p < 0.001). No association with the size of the atrophy was found at baseline (p = 0.27). Conclusions: This study demonstrates a prevalence of ODD of 30.7%. ODD presence is associated with longer ASs (an indicator of the severity and extent of ocular Bruch's membrane calcification), suggesting that ODD formation is tightly related to ectopic calcification-possibly secondary to calcification of the lamina cribrosa. Prospective studies investigating the impact of ODD (in conjunction with intraocular pressure) on visual function in PXE warrant consideration.

Optic disc drusen: Dystrophic calcification, a potential target for treatment.

Optic disc drusen (ODD) are calcified, acellular bodies, seen in the optic nerve head of up to 2% of the population. Although seldomly affecting visual acuity, visual field defects are common, and severe, ischemic complications causing irreversible vision loss are known to occur. Different treatment strategies for ODD have been explored, but so far without success. This review focuses on the unique, calcified property of ODD, describing what we know about ODD pathogenesis and previously tried treatment strategies. In this context, we discuss current knowledge about calcium and pathological calcifications, including intracranial and ocular calcifications. We also explore some of the obstacles that must be addressed to develop a therapy centred on the concept of calcification, should calcification be identified as a pathogenic factor contributing to vision loss.

Evaluation and management of nonarteritic anterior ischemic optic neuropathy: a national survey

PurposeThe evaluation and management of Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) lacks standardized guidelines. This study aimed to investigate the real-world practices of neuro-ophthalmologists in the evaluation and management of typical NAION cases.MethodsA national survey, conducted between 2019 and 2021, involved all practicing neuro-ophthalmologists. A structured questionnaire assessed their approach to risk factor evaluation and treatment of NAION, with 19 questions about risk factors and six questions concerning treatment and prevention of fellow-eye involvement.ResultsThirty-six out of 37 neuro-ophthalmologists participated. Most physicians referred patients for evaluation of the following risk factors: obstructive sleep apnea (83.3%), diabetes mellitus (83.3%), hypertension (77.7%), dyslipidemia (72.2%), and optic disc drusen (38.8%). However, there was considerable variation in the choice of diagnostic tests recommended. Furthermore, nearly 47% recommended an embolism workup. Regarding treatment, the majority (91%) did not recommend routine treatment for NAION, although in 16.7%, high-dose corticosteroids were occasionally prescribed. Secondary prevention with aspirin (80.6%), smoking cessation advice (86.1%), and advising against erectile dysfunction medications for men (80.6%) were common recommendations.ConclusionWhile the risk factors associated with NAION are well-reported, there is a lack of uniformity on which tests should be ordered to evaluate these risk factors. Most neuro-ophthalmologists concur that routine treatment for NAION is not warranted, but not unanimously. Future studies to develop a consensus guideline for post-NAION work-up and management recommendations may assist in the detection and management of preventable risk factors.

Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome

To report a previously undescribed finding of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in Stickler syndrome. Noncomparative case series. Twenty-two eyes with anomalous optic disc from 11 Stickler syndrome patients were identified and imaged. Peripapillary hyperreflective ovoid mass-like structures were graded using enhanced-depth imaging OCT (EDI-OCT) according to the consensus recommendations of the Optic Disc Drusen Studies Consortium. All EDI-OCT scans were obtained using the Heidelberg Spectralis (Heidelberg Engineering) with a dense horizontal raster (15 × 10°, 97 sections) centered on the optic nerve head and graded by 2 independent assessors. In case of disagreement, the image was graded by a third assessor. The presence of any coexisting optic disc drusen was also assessed using EDI-OCT and autofluorescence. The presence of PHOMS, clinical characteristics and genetic mutations. A pilot sample of 22 eyes with phenotypic optic disc abnormalities from 11 Stickler syndrome patients were identified and imaged. Eight patients were female and 3 were male. The mean age was 31 years (13-58 years). Peripapillary hyperreflective ovoid mass-like structures were present in 91% (n= 20) of imaged eyes. Seventy percent (n= 14) were type 1 Stickler syndrome and 30% (n= 6) were type 2 Stickler syndrome. All eyes were myopic and the degree of myopia did not seem to affect whether or not PHOMS was present in this cohort. One eye with PHOMS had retinal detachment, and 77.3% (n = 17) of eyes had undergone 360o prophylactic retinopexy. Thirty-two percent (n= 7) of eyes with PHOMS were present in patients with coexisting hearing loss and 22.7% (n= 5) had orofacial manifestation of Stickler syndrome in the form of a cleft palate. Seventy-seven percent (n= 15) of eyes with PHOMS were present in patients who reported joint laxity or symptoms of arthritis. No coexisting optic disc drusen were identified and raised intracranial pressure was also excluded after neurological investigation. These data suggest that PHOMS are a novel finding in Stickler syndrome patients and should be considered when evaluating the optic nerves of these patients. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Validation of retinal oximetry vessel selection using fluorescein angiography in patients with optic disc drusen

Retinal oximetry could provide insights into the pathophysiology of optic nerve disease, including optic disc drusen (ODD). Vessel selection for oximetry analysis is based on morphological characteristics of arterioles and venules and supported by an overlay of estimated blood oxygen saturations. The purpose of this cross-sectional study was to determine the validity of this vessel selection procedure by comparing it with vessel selection supported by video fluorescein angiography (FA).The study included 36 eyes of 36 patients with ODD who underwent retinal oximetry (Oxymap retinal oximeter T1) followed by FA (Heidelberg Spectralis). Two trained graders selected vessel segments in a pre-defined measurement area around the optic disc. One of these graders additionally performed the vessel segment selection with the support of FA images. When performed by the same grader, FA-supported and non-FA-supported vessel selection did not lead to significant differences in total vessel segment length, estimated oxygen saturations or vessel diameters (all p > 0.05). Inter-grader differences were found for arterial and venous segment lengths and arterial saturation (p < 0.05). A similar tendency was found for the arteriovenous saturation difference (p = 0.10). In conclusion, identifying vessel segments for retinal oximetry analysis based on vessel morphology and supported by a color-coded saturation overlay appears to be a valid method without the need for invasive angiography. A numerically small inter-grader variation may influence oximetry results. Further studies of retinal oximetry in ODD are warranted.

Interest of Retromode Imaging in the Visualization of Optic Nerve Head Drusen

Interest of Retromode Imaging in the Visualization of Optic Nerve Head Drusen