Optic Disc Drusen Research Articles

Comment on Rosa et al. Optic Nerve Drusen Evaluation: A Comparison between Ultrasound and OCT. J. Clin. Med. 2022, 11, 3715.

We read with interest the paper by Rosa et al., entitled "Optic Nerve Drusen Evaluation: A Comparison between Ultrasound and OCT", published in June of 2022 [...].

Optical coherence tomography angiography findings in optic disc drusen and idiopathic intracranial hypertension.

To evaluate the changes in peripapillary microvascularity in idiopathic intracranial hypertension (IIH) and optic disc drusen (ODD) patients, by comparing them with those in healthy individuals, via optical coherence tomography angiography (OCTA). Sixty-two eyes of 33 patients with ODD, 58 eyes of 30 patients with IIH, and 70 eyes of 70 healthy people were imaged for 6 × 6-mm optic disc scans on a spectral-domain OCTA. Vascular densities in superficial capillary plexus (SCP), deep capillary plexus (DCP), and choriocapillaris (CC) of ODD, IIH, and healthy eyes were compared with a one-way analysis of variance. Post-hoc analysis was performed with the Gabriel test. There was a significant decrease in peripapillary vessel density in SCP, DCP, and CC in patients with IIH compared to the control group (p < 0.05). In ODD patients, especially peripapillary vessel density in DCP was significantly reduced compared to the control group (p < 0.05). Peripapillary vessel density in DCP was significantly lower in the IIH group than ODD group (p < 0.05). Peripapillary vascular density may be affected during the course of the disease in both IIH and ODD. Compared to healthy individuals, the decrease in vascular density in these patients and the consequent decrease in perfusion in the peripapillary region may guide the pathogenesis of the complications in the course of these two diseases. Although vascular density in DCP and CC differs significantly between IIH and ODD, case-controlled studies are needed to evaluate the role of OCTA in the differential diagnosis of IHH and ODD.

Pattern of Ocular B-Mode Sonographic Findings in Diabetic Ophthalmopathy in Zaria, Nigeria

Objectives: This study was aimed at using B-Mode ultrasonography to evaluate the various changes in the eyes of diabetic patients. Methods: The study was conducted with DC 6 Mindray ultrasound machine within a period of six months at the Radiology Department of ABUTH, Zaria. 200 established diabetic patients with ocular complications aged 15 to 70 years were recruited for the study as case group and 200 established diabetic patients without ocular complication as control group. Results: A total of 800 eyes of 400 patients were involved in this study; 200 diabetic patients with ocular complications as case group and equal number of diabetic patients without ocular complications as a control group. The age range of the patients was 15-70 years (54.16 ± 12.0). 164 were males and 236 were females. Out of the 200 cases studied, vitreous haemorrhage was the commonest finding 195(97.5%), followed by cataract 54(27%), Posterior vitreous detachment 28(14%), Retinal detachment 7(3.5%), optic nerve drusen 6(3%), Vitreous liquefaction 5(2.5%), Epiretinal fibrosis 3(1.5%), Asteroid hyalosis 3(1.5%), and intraocular infection 1(0.5%). In the control group however, 27 (13.5%) had vitreous haemorrhage while the remaining 173 (86.5%) showed normal sonographic findings. Sonographic Findings in the case group were significantly higher than those in the control (p?0.05). Conclusion: The utility of ultrasonography in the detection of ocular complications in diabetic patients is reechoed in this study, and diabetic patients should benefit from this safe radiological evaluation as that will aid early detection of the aforementioned complications.

Peripapillary hyper-reflective ovoid mass-like structures (PHOMS): clinical significance, associations, and prognostic implications in ophthalmic conditions.

Pioneering advancements in optical coherence tomography (OCT) have facilitated the discernment of peripapillary hyper-reflective ovoid mass-like structures (PHOMS), prevalent neuro-ophthalmological findings associated with an array of ophthalmic conditions, such as optic disc drusen (ODD), papilledema, myopic/tilted optic discs, non-arteritic anterior ischemic optic neuropathy (NA-AION), and optic neuritis. Despite an expanding corpus of research, numerous inquiries persist concerning their clinical significance, correlations with ocular afflictions, and prognostic implications. This comprehensive review endeavors to impart an in-depth comprehension of PHOMS, encompassing facets like conceptualization, detection, pathogenesis, and associations with diverse ophthalmic conditions. Furthermore, we underscore several unresolved quandaries and suggest prospective avenues for future exploration.

Morpho-Functional Assessment of Retinal Ganglion Cells and Visual Pathways in Patients with Optic Disc Drusen: Superficial Drusen Visible Height as a Marker of Impairment.

The aim of this study was to assess the morpho-functional involvement of the retinal ganglion cells (RGCs) and of the visual pathways in patients with superficial (ODD-S) or deep (ODD-D) optic disc drusen. This study enrolled 17 patients with ODD (mean age of 59.10 ± 12.68 years) providing 19 eyes and 20 control subjects (mean age 58.62 ± 8.77 years) providing 20 eyes. We evaluated the following: best-corrected visual acuity, visual field mean deviation (MD), the amplitude (A) of Pattern Electroretinogram (PERG), the implicit time (IT) and A of Visual Evoked Potentials (VEPs), retinal nerve fiber layer thickness (RNFL-T) and ganglion cell thickness (GC-T). In ODD-S eyes, the drusen visible height was measured. ODD-D and ODD-S were detected in 26.3% and 73.7% of ODD eyes, respectively. Significantly (p < 0.01) reduced MD, PERG A, VEP amplitude, RNFL-T and GC-T values and significantly (p < 0.01) increased VEP IT values were found in the ODD Group as compared to the Control one. In the ODD Group, no significant correlation (p > 0.01) between PERG As and VEP ITs was found. In ODD-S, the visible height was significantly correlated (p < 0.01) with reduced MD, PERG As and RNFL-T and with increased PSD and VEP IT values. Our findings suggest that ODD might induce morpho-functional changes in RGCs and their fibers and an unrelated visual pathway dysfunction leading or not leading to visual field defects. The observed morpho-functional impairment should be ascribed to an alteration in retrograde (from the axons to the RGCs) and anterograde (from the RGCs up to the visual cortex) axoplasmic transport. In ODD-S eyes, a minimum visible height of 300 microns represented the threshold for the abnormalities, suggesting that "the higher the ODD, the worse the impairment".

Novel MFRP Mutation with Nanophthalmos, Optic Disc Drusen, and Peripheral Retinoschisis Imaged with Ultra-Widefield OCT.

To describe with multimodal imaging including the use of ultra-widefield optical coherence tomography (OCT) imaging a distinct phenotype of autosomal recessive nanophthalmos associated with a novel mutation of the MFRP gene (membrane-type frizzled-related protein). Case report and review of the relevant literature. Single patient followed by the Weill Cornell Medicine Department of Ophthalmology Retina and Glaucoma Services. A patient with a novel homozygous mutation in the MFRP gene (c.472C>T) presented with nanophthalmos, optic disc drusen, foveal hypoplasia, and extensive peripheral retinoschisis, which was revealed to be multilevel retinoschisis on ultra-wide field OCT. Unlike other reported cases, the findings associated with this novel mutation did not include foveoschisis nor clinically obvious retinitis pigmentosa. The patient underwent prophylactic peripheral laser iridotomy in both eyes. Here we present a patient with nanophthalmos, optic disc drusen, and foveal hypoplasia associated with extensive peripheral retinoschisis imaged by ultra-widefield OCT, but not foveal retinoschisis or prominent retinitis pigmentosa. The findings may expand the clinical spectrum of MFRP-associated nanophthalmos.

Radial peripapillary capillary network in optic disc anomalies with abnormal tissues on disc surface.

Optic disc anomalies with abnormal tissue on the disc surface includes, myelinated nerve fiber, optic disc drusen, and Bergmeister papillae. Imaging the radial peripapillary capillary (RPC) network in optic disc anomalies with optical coherence tomography-angiography (OCTA) can give information on the RPC network in these conditions. This video describes the OCTA of optic nerve head and RPC network using the angio disc mode in cases of optic disc anomalies with abnormal tissue on the disc surface. This video presents characteristic features of RPC network in one eye each of myelinated nerve fiber, optic disc drusen, and Bergmeister papillae. OCTA in optic disc anomalies with abnormal tissue on the disc surface show a dense RPC microvascular network. OCTA is an effective imaging modality to study vascular plexus/RPC and their alteration in these disc anomalies. https://youtu.be/zlflgijy56c.

Optic Disc Drusen Resulting in Disqualifying Field Loss

Background: Optic nerve (or disc) drusen is the presence of hyaline bodies at the optic nerve head. The drusen may be visible upon funduscopic examination or may present as buried. Timely diagnosis and responsible imaging may help inform the patient of the potential for future concerns. The long-term prognosis is good for most patients, however, they may experience progressive peripheral vision loss that may reduce the patient’s quality of life. Neuroprotective options have previously been discussed with minimal clinical effectiveness, however, new medications may aid in future treatment. Case Report: A patient presenting with mild and slowly progressing vision loss was examined and found to have optic disc drusen. Visual fields were done to quantify the extent of vision loss and revealed the patient no longer met the criteria for his commercial driver’s license. Findings, imaging, and treatment options are discussed. Conclusion: While no effective treatments exist currently, the potential benefit of brimonidine as a neuroprotective agent is discussed along with other future potential options. An assessment of the viability of the patient’s cost benefit ratio is discussed.

The Presence of Optic Disc Drusen in Eyes with Uveitis

ABSTRACT Purpose To evaluate the coexistence of optic disc drusen (ODD) in eyes with uveitis. Methods In this retrospective, observational study, patients followed up in a uvea clinic with all types of uveitis were evaluated. ODD were confirmed by ocular ultrasonography, optic nerve head enhanced-depth imaging optical coherence tomography, fundus autofluorescence, and fundus photography. Results ODD were detected in 17 of 545 (3.1%) uveitis patients. The mean age was 18.9 ± 10.4 years, and 76.5% were female. 45.5% were anterior, 42.4% were panuveitis, 6.1% were intermediate, and 6.1% were posterior uveitis. ODD were found bilaterally in all 17 patients; uveitis was unilateral in one patient. 58.8% were under the age of 18, and in this group, the rate of buried ODD was 78.9% (p = 0.039). In adults (seven patients), ODD were buried in 42.9%. Conclusion ODD can be detected in eyes with uveitis and may clinically mimic optic disc edema, lead to misdiagnosis and/or overtreatment.

A rare combination

A 19-year-old male presented with night blindness and gradual diminution of vision since 5 years. Clinical examination and investigations revealed bilateral atypical retinitis pigmentosa (punctata albescens) with foveal atrophy and optic disc drusen. On general examination, patient had central obesity, post-axial polydactyly and brachydactyly in upper and lower limbs, hypogonadism, cognitive deficit, and speech impairment, which were suggestive of Bardet–Biedl syndrome. This is a rare case of Bardet–Biedl syndrome with atypical retinitis pigmentosa (punctata albescens) and bilateral optic disc drusen.

Congenital Optic Disc Drusen Misdiagnosed As Benign Idiopathic Intracranial Hypertension

A 16 year old female, was referred by the neuro-physician for the evaluation and management of decrease visual acuity in the left eye and papilledema, she was diagnosed Benign Idiopathic Intracranial Hypertension. She was under treatment for 4 years for papilledema. Visual acuity was 6/6 in the right eye and 1/60 in the left eye. Slit lamp examination was normal. Fundoscopy showed lumpy appearances of the optic nerve heads with vessels and macula normal, in both eyes. Her B scan ultrasonography and Computerized Tomography scan were carried out that revealed buried optic disc drusen a cause of pseudo-papilledema. On General examination she had typical Cushingoid features that she developed due to excess steroid therapy she was prescribed.This casehighlights the importance of identifying buried optic disc drusen, being misdiagnosed and treated as true papilledema secondary to Benign Idiopathic Intracranial Hypertension.

The Twilight Zone Where Margins Are Blurred: A Retrospective Analysis of Unilateral and Bilateral Optic Disc Swelling in a Tertiary Center in Malaysia.

Background To analyze the etiology of optic disc swelling (ODS) and compare the clinical features between non-arteritic anterior ischemic optic neuropathy (NA-AION) and optic neuritis (ON) at our center from January 2019 to January 2020. Methodology Clinical records of all patients who presented with ODS between January 2019 and January 2020 were reviewed. The collected data were analyzed using IBM SPSS Statistics for Windows (Version 23.0,IBM Corp., Armonk, NY, USA). Results A total of 70 eyes among 47 patients were included in this review. There were 24 patients (51%) who had unilateral ODS, while 23 patients (49.0%) had bilateral ODS. The most common etiology of unilateral ODS was ON (45.7%), NA-AION (25%), and neuroretinitis (12.5%). Among bilateral ODS, the most common cause was papilledema (30.4%), hypertensive retinopathy (21.7%), diabetic papillitis (13.1%), and optic disc drusen (13.1%). Among unilateral ODS, the mean onset age was significantly older in NA-AION cases than that in ON cases (57.5 years vs. 40.3 years, P= 0.016). Ocular pain was a significant clinical finding observed in ON cases (54.5%) and none in NA-AION cases (P= 0.043). Although there was no significant difference in the initial visual acuity (VA) between NA-AION and ON, the final VA was significantly improved in ON compared to NA-AION (0.31 ± 0.34 vs. 1.14 ± 1.00, P = 0.029). Conclusions Many differential diagnoses must be considered when a patient is presented with ODS. With the increased prevalence of hypertension and diabetes in Malaysia, it is not a surprise that both hypertensive retinopathy and diabetic papillitis together accounted for one-third of the bilateral ODS patients.

Optic nerve sheath diameter and axial length in patients with optic disc drusen: a cross-sectional study

Measuring the optic nerve sheath diameter (ONSD) and the anteroposterior axial length of the eye in patients with optic disc drusen (ODD). A total of 43 healthy volunteers and41patients with ODD were included in the study.The ONSD and axial length were measured in theposterior positionusing an ultrasound device (E-Z Scan AB5500 +)probe with a 10MHz frequency. The ONSD was measured 3mm behind the globe wall.Receiver operating characteristic (ROC) curve analysis was performed to determine patients with ODD using ONSD.Any p-value of < 0.05 was accepted to demonstrate significance. The ONSD was significantly higher(5.2mm and 4.8mm, p = 0.006,respectively),andthe axial length was shorter(21.82 ± 2.15mmand23.27 ± 1.96mm,p = 0.002,respectively) in the ODD group.The spherical equivalent was more commonly seen as hypermetropic in the ODD group (1.00 [- 0.85 to 1.75]).In the ROCanalysisto determine the ONSD value in ODD diagnosis, the area under the curvewas 0.6754 (95% confidence interval 0.559-0.788, p = 0.006).ONSD cutoff of 5.70mm had a sensitivity of 0.366 and a specificity of 0.907 to diagnose ODD. In this study, the ONSD was significantly higher in the ODD group. The axial length was shorter in the ODD group.This study is the first in the literature to evaluate the ONSD in patients with optic disc drusen.Further studies are needed in this regard.

Discriminating Healthy Optic Discs and Visible Optic Disc Drusen on Fundus Autofluorescence and Color Fundus Photography Using Deep Learning—A Pilot Study

The aim of this study was to use deep learning based on a deep convolutional neural network (DCNN) for automated image classification of healthy optic discs (OD) and visible optic disc drusen (ODD) on fundus autofluorescence (FAF) and color fundus photography (CFP). In this study, a total of 400 FAF and CFP images of patients with ODD and healthy controls were used. A pre-trained multi-layer Deep Convolutional Neural Network (DCNN) was trained and validated independently on FAF and CFP images. Training and validation accuracy and cross-entropy were recorded. Both generated DCNN classifiers were tested with 40 FAF and CFP images (20 ODD and 20 controls). After the repetition of 1000 training cycles, the training accuracy was 100%, the validation accuracy was 92% (CFP) and 96% (FAF), respectively. The cross-entropy was 0.04 (CFP) and 0.15 (FAF). The sensitivity, specificity, and accuracy of the DCNN for classification of FAF images was 100%. For the DCNN used to identify ODD on color fundus photographs, sensitivity was 85%, specificity 100%, and accuracy 92.5%. Differentiation between healthy controls and ODD on CFP and FAF images was possible with high specificity and sensitivity using a deep learning approach.

Intrapapillary Hemorrhage and Optic Disc Drusen

A 43-year-old woman with hypertension and obstructive sleep apnea complained of a shadow in the vision of the right eye. One week prior she fell forward into a wall. Visual acuity was 20/20 in both eyes. There was bilateral optic disc drusen and hemorrhage within the right optic disc (A). Fluorescein angiogram and OCT were normal. Six weeks later the intrapapillary hemorrhage resolved (B). Optic disc drusen can be complicated by intrapapillary, peripapillary (retinal or subretinal), or vitreous hemorrhages.

Optic nerve drusen causing hemorrhages in three retinal layers

Optic nerve drusen causing hemorrhages in three retinal layers

Rates of Visual Field Change in Eyes With Optic Disc Drusen.

Optic disc drusen (ODD) are calcified deposits in the prelaminar portion of the optic nerve head. Although often asymptomatic, these deposits can cause progressive visual field defects and vision loss. The purpose of this study was to evaluate rates of functional loss in eyes with ODD and to investigate risk factors associated with rates of visual field progression. This was a retrospective cohort study including 65 eyes of 43 patients with ODD from the Duke Ophthalmic Registry. All eyes had at least 12 months of follow-up and at least 3 reliable standard automated perimetry (SAP) tests. Linear mixed models were used to estimate rates of SAP mean deviation (MD) loss over time. Univariable and multivariable models were used to assess the effect of clinical variables and intraocular pressure (IOP) on rates of change. Subjects were followed for an average of 7.6 ± 5.3 years. The mean rate of SAP MD change was -0.23 ± 0.26 dB/year, ranging from -1.19 to 0.13 dB/year. Fifty-seven eyes (87.7%) had slow progression (slower than -0.5 dB/year), 6 eyes (9.2%) had moderate progression (between -0.5 dB/year and -1 dB/year), and 2 eyes (3.1%) had fast progression (faster than -1 dB/year). In multivariable models, older age and worse SAP MD at baseline were significantly associated with faster rates of change. Mean IOP was not associated with faster rates of MD change in both univariable and multivariable analyses. Most eyes with ODD had slow rates of visual field loss over time. Age and baseline severity were significantly associated with faster rates of visual field loss.

Clinical approach for suspected optic disc swelling in children: recommendations based on a six-year review

ABSTRACT Clinical relevance Suspected optic disc swelling is a common presentation in children. The delineation between true optic disc swelling and pseudopapilloedema, its common masquerade, requires careful evaluation. A streamlined pathway is required to avoid unnecessary investigations. Background Papilloedema requires urgent neuroimaging, however, perceived optic disc swelling is not always true papilloedema. This study aims to investigate the outcome of referrals for optic disc swelling and formulate features that may assist in investigation and diagnosis. Methods A retrospective review of referrals for optic disc swelling to the Queensland Children’s Hospital, Australia, between January 2014 and June 2020 was undertaken. Results Four hundred and ten children were referred for optic disc swelling. Sixty-six patients were confirmed with optic disc swelling, and 344 patients had pseudopapilloedema. The average age was 10.10 ± 3.57 and 9.90 ± 3.50 years, respectively. The most common aetiology of optic disc swelling was idiopathic intracranial hypertension (n = 25). Optic disc drusen constituted the majority of pseudopapilloedema (n = 239) and the remainder were crowded/tilted discs (n = 105). True optic disc swelling patients were more likely to experience headache (OR = 8.68, p < 0.01) and visual disturbance (OR = 2.14, p = 0.03). B-scan was the most sensitive for the detection of optic disc drusen (100%), followed by optical coherence tomography (70.38%) and fundus autofluorescence (44.86%). The retinal nerve fibre layer thickness was significantly thicker in true optic disc swelling compared to pseudopapilloedema (p < 0.01). Twenty-two (33.33%) true optic disc swelling patients and 33 (9.59%) pseudopapilloedema patients underwent neuroimaging prior to ophthalmology review. Conclusions Suspected optic disc swelling in children is most likely pseudopapilloedema. Referrals should include neurological assessment, visual acuity, fundus photography, and optical coherence tomography to assist in the triage for ophthalmic review. Neuroimaging prior to ophthalmic review should be discouraged for children without neurological symptoms.

The visual morbidity of optic nerve head drusen: a longitudinal review

The ophthalmologic complications of optic nerve head drusen (ONHD) in adults have been documented, whereas data on the degree of visual morbidity from OHND in children are limited. The medical records of all patients diagnosed with ONHD at a single, tertiary care ophthalmology department from January 1, 2010, until July 1, 2018, were reviewed retrospectively. Patients were identified using ICD-9 and ICD-10 codes. Inclusion criteria were age ≤18 years of age and formal documentation of ONHD by ancillary testing. A total of 213 patients (386 eyes with ONHD) met inclusion criteria. Mean age at diagnosis was 10.13 ± 4.09 years, and mean follow-up was 2.76 ± 2.91 years. Formal visual fields were available for 208 eyes. Repeatable visual field defects were noted in 24 eyes (11.5%). The most common defect was a nasal step, which occurred in 11 eyes (45.8%). Fifteen eyes had visual field defects at presentation, and 9 eyes developed field loss within 1.39 ± 0.55 years of diagnosis. There was no correlation found between intraocular pressure and degree of visual field loss. Choroidal neovascular membranes were clinically apparent in 5 eyes and treatment was required in 3 eyes. Nonarteritic ischemic optic neuropathy developed in 2 eyes. Visual morbidity associated with ONHD in children is common and may develop in a short period of time after initial diagnosis. There was no correlation found with intraocular pressure.

Optic disc drusen: new hypotheses on systemic calcification

Optic disc drusen (ODD) are acellular calcified deposits within the optic nerve head. They arise early in life, usually remain asymptomatic with a benign prognosis, and they are most often clinically relevant as they can be mistaken for papilloedema, can result in asymptomatic optic nerve thinning resembling glaucoma, or can have complications such as anterior ischaemic optic neuropathy with sudden loss of vision. There is still a lot of uncertainty about the pathogenesis of ODD, and prognostic factors for vision loss in the long term. The strongest association of ODD is with pseudoxanthoma elasticum, a condition of systemic ectopic calcification. Understanding the shared biochemical pathways underlying pseudoxanthoma elasticum and other conditions with the same phenotype, highlights pyrophosphate as an important factor in ectopic calcification and a potential therapy.