Buried Optic Nerve Head Drusen Research Articles

Peripapillary hyperreflective ovoid mass-like structures-a novel entity as frequent cause of pseudopapilloedema in children.

Optic nerve head drusen (ONHD) are considered the most common cause for pseudopapilloedema in children. We aimed to investigate and further characterize a new type of optic nerve head lesion on enhanced depth imaging optical coherence tomography (EDI-OCT) named peripapillary hyperreflective ovoid mass-like structures (PHOMS), and ONHD in asymptomatic children with pseudopapilloedema. Retrospective cohort study including 64 eyes from 32 patients with pseudopapilloedema due to PHOMS and/or ONHD. Mean age was 9.0 ± 3.1 years. PHOMS and ONHD were identified and classified on EDI-OCT and infrared images. Ultrasound images were classified for the presence of hyperechogenic structures of the optic nerve head. On EDI-OCT, PHOMS were detected in 63 out of 64 eyes (98.4%). In 60 eyes (93.8%), small hyperreflective foci inside the PHOMS were present. In all cases, we identified a new ring sign visible on infrared images, corresponding clearly to the edge of the PHOMS as seen on EDI-OCT. On ultrasound, we describe a new feature of PHOMS appearing as small hyperechogenic structures without posterior shadowing. In 13 eyes (20.3%), ONHD were present on EDI-OCT and ultrasound. This is the first study showing that PHOMS are the most common cause for pseudopapilloedema in children. PHOMS is a new entity of optic nerve head lesions. It might be a precursor of buried optic nerve head drusen, which can lead to visual field defects, haemorrhages and CNV. This study offers new tools to identify and follow-up these lesions early in childhood using EDI-OCT.

Parapapillary Optic Nerve Head Drusen in Leber Congenital Amaurosis

A 20-year-old male who was known to have Leber congenital amaurosis was assessed. Best-corrected visual acuity was counting fingers in both eyes (OU). Anterior segment OU revealed poorly reacting pupils and nystagmoid movements. Dilated fundus examination revealed widespread bone spicule pigmentation with "macular coloboma" OU (Figure a and b). Short-wave autofluorescence showed hyperautofluorescent buried optic nerve head drusen and generalized hypoautofluorescence OU (Figure c and d). Additionally, the left eye showed parapapillary drusen resulting from calcification of swollen and disrupted axons at a remote location in the parapapillary area (blue arrows; Figure b and d). The presence of buried optic nerve head drusen OU gives a clue to the diagnosis of parapapillary drusen, which can be easily mistaken for retinal astrocytoma. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:554.].

Multiple imaging modalities for the detection of optic nerve head drusen: Is echography still mandatory?

In this study, we included 28 patients with optic nerve head drusen (ONHD) seen at the University Eye Hospital of Cologne, Germany. The mean age was 40.9 ± 22.4 years. Sixteen patients were female, and twelve were male. The mean visual acuity was 0.18 ± 0.39 and 0.14 ± 0.23 LogMAR for the right and left eyes, respectively. A summary of baseline and morphological characteristics is given in Table 1. Three patients showed unilateral ONHD (patient no. 10, 26 and 28). The mean deviation in the perimetry was −6.74 ± 8.05 dB and −4.03 ± 5.04 dB for the right and the left eyes, respectively. A definite grid shown is used for the optical coherence tomography (OCT) quantification (Fig. 1). In this collective, optic head drusen are seen on the surface of the optic disc (superficial ONHD) in 45 eyes. This type of drusen is easily seen using funduscopy and fundus photography (Fig. 2). Drusen located on the surface of the optic disc also can be diagnosed using fundus autofluorescence, spectral domain OCT (SD-OCT), enhanced depth imaging OCT (EDI-OCT) and swept source OCT (SS-OCT). The fundus autofluorescence shows hyper-reflective materials, which are characteristics for drusen. In SD-OCT, hyporeflective materials can be easily seen in the depth of the optic nerve. Using EDI-OCT and SS-OCT, these drusen can be easily displayed. Drusen present in OCT as oval structures with hyporeflective filling and shadowing effect underneath the drusen. In all cases, hyper-reflective dots are seen around the drusen. In some cases, only some hyper-reflective dots without inner hyporeflective fillings are seen. Differentiating drusen to blood vessels can be challenging in some cases. Unlike drusen, vessels represent as oval structures with hyper- or hyporeflective fillings and shadowing effect underneath them. The outer linings of vessels are usually smooth without the aforementioned hyper-reflective dots (Fig. 3). In this study, the mean depth of ONHD was 205.45 ± 95.01 μm. Drusen and other retinal structure in the height of retinal nerve fibre layer (RNFL) through the retinal pigment epithelium (RPE) were best displayed using SD-OCT. Other structures underneath the RPE were best displayed using EDI-OCT. Swept source OCT (SS-OCT) displayed all structures from RNFL to the choroid sufficiently (Fig. 4). The outer boundaries of structures underneath optic nerve head drusen were however best shown using EDI-OCT. In eight eyes, optic disc drusen are buried in the depth of the optic disc. This type of drusen cannot easily be diagnosed using funduscopy. Also, in fundus autofluorescence, no hyper-reflective materials can be seen. Swept source optical coherence tomography, EDI-OCT and SS-OCT cannot penetrate into the depth to demonstrate the drusen either. In this case, only ultrasound is able to demonstrate the drusen in the depth of the optic nerve (Fig. 5). Optical imaging modalities showed similar sensitivity, that is 0.82, 0.77, 0.80 and 0.83 for SD-OCT, EDI-OCT, SS-OCT and FAF, respectively. The use of ultrasound showed the highest sensitivity of 1.0. The Youden's index for these imaging modalities was 0.82, 0.77, 0.80, 0.83 and 1.0 for SD-OCT, EDI-OCT, SS-OCT, FAF and ultrasound, respectively. The RNFL thickness around the optic nerve head was not significantly different comparing controls and ONHD patients (Table 2). Ganglion cell layer inner plexiform layer (GCLIPL) thickness was thicker in the superior and inferior part of the optic nerve head in ONHD patients (p = 0.002 and p = 0.019, respectively). Our findings encourage the use of different imaging modalities to diagnose and follow ONHD. We showed that non-buried ONHD are best displayed using optical imaging modalities, such as fundus photography, fundus autofluorescence and OCT. The non-buried ONHD can also be displayed using ultrasound as well; however, light-based imaging modalities offer mostly a more precise depiction of structures. This might be relevant, if one would like to follow and compare the structures in the future. We showed that SD-OCT depicts ONHD above the RPE best, while EDI-OCT the structure underneath the RPE level best. Swept source OCT (SS-OCT) displays all structures from RNFL to underneath the RPE level sufficiently. In conclusion, new imaging modalities based on OCT, that is EDI-OCT and SS-OCT, have their potential for diagnosing ONHD. They are however not suitable for imaging buried ONHD. We support the use of multiple imaging modalities in ONHD, as each of them has its pros and cons.

Measurement of retinal nerve fiber layer and macular ganglion cell-inner plexiform layer with spectral-domain optical coherence tomography in patients with optic nerve head drusen.

To evaluate the effect of optic nerve head drusen (ONHD) on the retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (GCIPL) using Cirrus optical coherence tomography (OCT). Fifty-seven eyes of thirty patients with ONHD and thirty-eight eyes of twenty age-matched and sex-matched control subjects underwent circumpapillary and macular scanning using Cirrus OCT. The percentages of eyes with abnormal GCIPL and RNFL values according to the Cirrus normative data were analysed and compared. Overall, eyes with ONHD showed abnormally reduced values for average and minimum GCIPL thicknesses in 35 % and 45 % of cases compared to 2 % for both values in control eyes (P < 0.001). Average RNFL thickness comparison between eyes with ONHD and normal eyes revealed abnormal thinning in 33 % vs. 0 %, respectively (p = 0.002). The percentage of abnormal thinning increased with higher grades of ONHD for all the parameters evaluated, so that in grade III drusen, values were abnormally reduced in 80 % of eyes in all three analyses. Regarding buried ONHD, 30 % and 4 % of eyes had an abnormally reduced minimum GCIPL and average RNFL thickness, respectively. Furthermore, 26 % of these eyes had abnormal GCIPL exams with a normal or increased RNFL thickness. Both RNFL and GCIPL analysis reveal significant thinning in eyes with ONHD directly correlated with drusen severity. In buried ONHD, the abnormality rate was significantly higher with GCIPL compared to RNFL evaluation, suggesting that GCIPL analysis might be an early structural indicator of neuronal loss in the setting of thickened RNFL.

HEMORRHAGIC COMPLICATIONS OF OPTIC NERVE HEAD DRUSEN ON SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY

To describe the clinical features of hemorrhagic complications secondary to optic nerve head drusen (ONHD) using spectral domain optical coherence tomography (SD-OCT). Sixty-three consecutive patients with SD-OCT-documented ONHD who presented at Seoul National University Bundang Hospital from December 2009 to July 2012 were included. Full ophthalmologic examinations, including fundus photographs, SD-OCT, fundus angiography, and visual field tests were analyzed in a total of 101 ONHD-positive eyes from 63 patients. Hemorrhagic ONHD complications were found in 7 eyes (7%) from a total of 101 eyes with ONHD. All of them had buried ONHD (visualized with SD-OCT) and myopia (mean spherical equivalent = -4.00 ± 2.35 diopters). Patients with ONHD hemorrhagic complications had smaller disk diameters than patients without hemorrhagic complications (1,308 ± 166 vs. 1,555 ± 217 μm, P = 0.004). Peripapillary hemorrhages were classified into the following 3 types based on SD-OCT findings: subretinal (6 eyes, 86%), retinal (5 eyes, 71%), and vitreous hemorrhage (4 eyes, 57%). Six patients (86%) complained of the recent onset of visual symptoms, but visual acuities at presentation were 20/20 in all patients. In the three patients who were followed up, most hemorrhages were absorbed without complications. Peripapillary hemorrhage can often occur in patients with buried ONHD and small disk diameters. As SD-OCT can be used to visualize ONHD beneath hemorrhage, it is helpful with the differential diagnosis and follow-up evaluation.

Differentiating Mild Papilledema and Buried Optic Nerve Head Drusen Using Spectral Domain Optical Coherence Tomography

To evaluate the clinical utility of spectral domain optical coherence tomography (SD-OCT) in differentiating mild papilledema from buried optic nerve head drusen (ONHD). Comparative case series. Sixteen eyes of 9 patients with ultrasound-proven buried ONHD, 12 eyes of 6 patients with less than or equal to Frisén grade 2 papilledema owing to idiopathic intracranial hypertension. Two normal fellow eyes of patients with buried ONHD were included. A raster scan of the optic nerve and analysis of the retinal nerve fiber layer (RNFL) thickness was performed on each eye using SD-OCT. Eight eyes underwent enhanced depth imaging SD-OCT. Images were assessed qualitatively and quantitatively to identify differentiating features between buried ONHD and papilledema. Five clinicians trained with a tutorial and masked to the underlying diagnosis independently reviewed the SD-OCT images of each eye to determine the diagnosis. Differences in RNFL thickness in each quadrant between the 2 groups and diagnostic accuracy of 5 independent clinicians based on the SD-OCT images alone. We found no difference in RNFL thickness between buried ONHD and papilledema in any of the 4 quadrants. Diagnostic accuracy among the readers was low and ranged from 50% to 64%. The kappa coefficient of agreement among the readers was 0.35 (95% confidence interval, 0.19-0.54). We found that SD-OCT is not clinically reliable in differentiating buried ONHD and mild papilledema.

Macular segmentation in Neuro-Ophthalmology: Descriptive or predictive?

Optical coherence tomography (OCT) has become essential to evaluate axonal/neuronal integrity, to assess disease progression in the afferent visual pathway and to predict visual recovery after surgery in compressive optic neuropathies. Besides that OCT testing is considered a powerful biomarker of neurodegeneration and a promising outcome measure for neuroprotective trials in multiple sclerosis (MS).Currently, spectral-domain OCT (SD-OCT) technology allows quantification of retinal individual layers. The Ganglion Cell layer (GCL) investigation has become one of the most useful tools from a neuro-ophthalmic perspective. It has a high correlation with perimetry, is predictive of future progression and is a highly sensitive, specific of several neuro-ophthalmic pathologies. Moreover the superior correlation with clinical measures compared to peripapillary retinal nerve fiber layer (pRNFL) suggests that GCL analysis might be a better approach to examine MS neurodegeneration.In disorders with optic disk edema, such as ischemic optic neuropathy, papillitis and papilledema, reduction in RNFL thickness caused by axonal atrophy is difficult to distinguish from a swelling resolution. In this setting, and in buried optic nerve head drusen (ONHD), GCL analysis may provide more accurate information than RNFL analysis and it might be an early structural indicator of irreversible neuronal loss.Enhanced depth imaging OCT (EDI-OCT) provides in vivo detail of ONHD, allowing to evaluate and quantify the drusen dimensions.OCT is improving our knowledge in hereditary optic neuropathies. Furthermore, there is growing evidence about the role of OCT as an adjunctive biomarker of disorders such as Alzheimer and Parkinson’s disease.

Morphologic Characteristics of Optic Nerve Head Drusen on Spectral-Domain Optical Coherence Tomography

To evaluate the morphologic characteristics of optic nerve head drusen. Retrospective case series. setting: Institutional (Seoul National University Bundang Hospital). patients: Sixty-one patients with optic nerve head drusen. observation procedure: Visible and buried optic nerve head drusen were identified using funduscopy, whereas homogenous and nonhomogenous optic nerve head drusen were identified using spectral-domain optical coherence tomography images. Buried optic nerve head drusen were classified according to the size. main outcome measures: Classification of optic nerve head drusen. Of 99 eyes in 61 patients, optic nerve head drusen were buried in 95 eyes and visible in 4 eyes. The patients with visible optic nerve head drusen were older on average than those with buried optic nerve head drusen (53.3 ± 8.6 years vs 13.5 ± 7.1 years; P < .001) and exhibited larger disc diameters (1643 ± 265μm vs 1287 ± 185μm; P= .016). All 4 eyes with visible optic nerve head drusen exhibited hyperreflective borders, which were not found in patients with buried optic nerve head drusen. Of 95 eyes with buried optic nerve head drusen, 64 eyes (67%) showed homogenous internal reflectivity, whereas 31 eyes (33%) showed nonhomogenous reflectivity with lobulations. Large optic nerve head drusen were associated with a small optic disc diameter, nonhomogenous internal reflectivity, a partial highly reflective border, intraretinal cysts, and increased temporal retinal nerve fiber layer thickness. Optic nerve head drusen have a diverse spectrum of spectral-domain optical coherence tomography findings associated with patient age and disc size.

Glaucoma masqueraders: Diagnosis by spectral domain optical coherence tomography

BackgroundAdvances in optic nerve and retinal imaging have dramatically changed the care of glaucoma patients, complementing the importance of the clinical exam of the optic nerve and automated perimetry in making the diagnosis of glaucoma. Computerized imaging, however, does not replace the clinical exam, as there can be overlap in the appearance of non-glaucomatous optic neuropathies with glaucoma. MethodsThe spectral domain optic coherence tomography (SD-OCT) images of five patients with non-glaucomatous optic nerve pathology are presented. CasesThe first patient had bilateral temporal thinning on OCT imaging and subsequent positive syphilis testing. The second patient had a glaucomatous-appearing inferior arcuate scotoma and associated superior thinning on OCT; these findings were due to buried optic nerve head drusen, clearly appreciated on OCT of the optic nerve head. Bilateral diffuse macular thinning, with preservation of the superior and inferior fiber bundles, was seen in the third patient, who had multiple sclerosis, with no clinical history of optic neuritis. Dense and marked thinning of a macular half, respecting the horizontal meridian, is seen in two patients, one patient with non-arteritic anterior ischemic optic neuropathy and lastly, in a patient with hemi-retinal vein occlusion. ConclusionSD-OCT of the optic nerve and retina complements the essential clinical examination of patients with glaucomatous and non-glaucomatous optic neuropathies.

Optic Nerve Head Drusen in Black Patients

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. 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. 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. 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.

Pseudopapilledema and headache: pseudo-pseudotumor cerebri?

Objective: To discuss different combinations of headache, pseudopapilledema (due to optic nerve head drusen), and pseudotumor cerebri (PTC). Materials and methods: We present two case reports with pseudopapilledema due to buried optic nerve head drusen (ONHD) and headache as the presenting symptom. Results: Both patients were diagnosed as ‘true’ papilledema at their first presentation. The first patient had a documented increase of intracranial pressure, but her symptoms persisted despite standard therapy of PTC. Later, ONHD were diagnosed in addition to PTC and migraine. The second patient was initially misdiagnosed as normal-pressure PTC; ONHD and migraine were diagnosed at the time of her second presentation two years later. Discussion: These cases are good examples of the concurrence of buried ONHD, headache, and PTC, and demonstrate the diagnostic and therapeutic challenges in similar patients.