Prevalence of Optic Disc Drusen in Young Patients With Nonarteritic Anterior Ischemic Optic Neuropathy: A 10-Year Retrospective Study.

BACKGROUND: Nonarteritic anterior ischemic optic neuropathy (NAION) in young patients (age ≤50) accounts for a minority of all cases of NAION and is more highly associated with crowding of the optic nerves and bilateral involvement than NAION in older patients. Optic disc drusen (ODD) are likewise associated with crowded optic nerves and are located in the prelaminar optic nerve head where they could contribute to NAION pathogenesis. The purpose of this study was to determine the prevalence of ODD in the eyes of young NAION patients using modern imaging methods and to compare it to the baseline 1.8%-2.0% prevalence of ODD in the general population. METHODS: In this retrospective study, all young NAION patients (ages 18-50 years, inclusive) seen in 2 tertiary care neuro-ophthalmology clinics (in London, Canada and Copenhagen, Denmark) in the ten-year interval between April 1, 2009, and March 31, 2019, were identified and their medical charts reviewed. Patients were included in the study if ODD were diagnosed by any method (including ophthalmoscopy, ultrasound [US], fundus autofluorescence [FAF], computed tomography [CT], or any optical coherence tomography [OCT] method), or if ODD were excluded by enhanced-depth imaging OCT (EDI-OCT) using the ODD Studies (ODDS) Consortium protocol. The presence or absence of ODD was recorded for each eye. RESULTS: There were 37 eligible patients (74 eyes). Mean age of NAION onset was 38.5 ± 10.0 years, and 23 patients (62%) were men. Patients had undergone the following methods of ODD detection: ophthalmoscopy (37 patients), EDI-OCT (36 patients), FAF (31 patients), US (9 patients), and CT orbits (8 patients). We found a prevalence of ODD of 56.7% in NAION-affected patients and 53.3% in NAION-affected eyes. Only 35.9% of ODD were visible on ophthalmoscopy. Twenty of 21 ODD patients (95.2%) had bilateral ODD. Age of onset and sex did not differ significantly between the ODD-positive group and the ODD-negative group. EDI-OCT outperformed any combination of ophthalmoscopy, US, FAF, and CT at detecting ODD. CONCLUSION: ODD were found with much higher prevalence in young patients with NAION than in the general population and were usually bilateral and buried. ODD may contribute to NAION pathogenesis by exacerbating an underlying compartment syndrome in the crowded "disc at risk." EDI-OCT may be the best imaging modality for ODD detection in future studies.

Optic Disc Drusen Associated Anterior Ischemic Optic Neuropathy: Prevalence of Comorbidities and Vascular Risk Factors.

BACKGROUND: Nonarteritic anterior ischemic optic neuropathy (NA-AION) associated with optic disc drusen (ODD) is termed ODD-AION, where NA-AION with no evidence of ODD is simply termed NA-AION. Patients with ODD-AION have been found to be younger than those with NA-AION but with similar vascular risk factors. This study compares the known risk factors for NA-AION between a group with ODD-AION and a similarly aged group with NA-AION. METHODS: A case-control study of 13 patients with ODD-AION and 14 patients with NA-AION diagnosed in the period 2008-2017. All patients underwent an interview designed to evaluate history of vascular risk factors and comorbidities and re-examination including enhanced depth imaging optical coherence tomography to confirm the presence or absence of ODD. RESULTS: No significant differences were found in demographic or clinical characteristics between the ODD-AION and the NA-AION group. Significantly more ODD-AION patients than NA-AION patients had no vascular risk factors (smoking, arterial hypertension, diabetes mellitus, and dyslipidemia) present (P = 0.047). Significantly fewer patients in the ODD-AION group were diagnosed with arterial hypertension or dyslipidemia than in the NA-AION group. CONCLUSIONS: In this cross-sectional study, the ODD-AION patients more often had no vascular risk factors as compared to NA-AION patients, which supports the hypothesis that ODD are an independent risk factor for AION.

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

BACKGROUND: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center. During the last day-hospital visit, a complete eye examination showed ONHD and cataract in both eyes. Next Generation Sequencing (NGS) was subsequently done to check for any association between the eye problems and metabolic aspects. CONCLUSIONS: This is the first description of ocular changes in a patient with GSD Ia and DGS. Mutations explaining GSD Ia and DGS were found but no specific causative mutation for cataract and ONHD. The metabolic etiology of her lens changes is known, whereas the pathogenesis of ONHD is not clear. Although the presence of cataract and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to DGS could be the common biochemical pathway.

[Analysis of structure, causes, and risk factors of ischemic optic neuro-pathy]. / Analiz struktury, prichin i faktorov riska razvitiia ishemicheskoi opticheskoi neiropatii.

AIM: to analyze the structure, risk factors, and causes of ischemic optic neuropathy (ION). MATERIAL AND METHODS: A total of 239 patients (303 eyes) with ION and 98 patients (185 eyes) with optic disc drusen were examined. All ION patients underwent general clinical assessment. Those under 50 years of age were also tested for antiphospholipid markers and gene polymorphisms of the coagulation system. RESULTS: All patients were found to be exposed to two or more modifiable risk factors of ION. A total of 47.1% of cases were judged as being at anatomical risk of anterior ION (AION) with the cup-to-disc ratio in the second eye of less than 0.15 (of less than 0.25 in 53% of cases). Of 98 patients (185 eyes) with optic disc drusen, 5.4% of cases (10 eyes) developed AION. As many as 22% of ION patients were under 50 years of age. Of them, in 32% primary APS was diagnosed, in 3.6% - secondary (in the presence of SLE); all cases were positive for polymorphisms of the coagulation system that determine genetic predisposition to ION (indeed, the frequency of the latter was significantly higher in these patients than in the control group). CONCLUSION: Ischemic optic neuropathy is an optic nerve disorder that requires thorough medical history taking and comprehensive assessment of the patient in order to identify the causes and risk factors of this disease as well as accompanying pathologies.

Optic disc drusen associated with optic nerve tumors.

PURPOSE: To propose a theory based on clinical observation, namely, whether axonal distress induced by optic nerve tumors could be a triggering factor for optic disc drusen (ODD) formation. CASE REPORTS: A 28-year-old woman with ODD and optic disc melanocytoma, a 53-year-old woman with ODD and optic nerve meningioma, and a 29-year-old woman with ODD and optic nerve glioma underwent comprehensive ophthalmologic examinations including spectral-domain optical coherence tomography, swept-source optical coherence tomography, visual field tests, color vision tests, and complete neurologic examinations including brain magnetic resonance imaging. In two cases, unilateral ODD existed on the same side of optic nerve tumors. In the bilateral case, the nerve that contained the tumor had ODD that were located more deeply and on both nasal and temporal sides of the optic nerve compared with the contralateral eye. In two cases, optic disc edema (ODE) was also present, and ODD persisted after ODE resolved. CONCLUSIONS: Optic nerve tumors can trigger the formation of ODD, which suggests that ODD pathogenesis involves axonal flow distress in the optic nerve. The presence of asymmetric ODD and ODE may indicate the presence of an optic nerve tumor.

Optic disc drusen mimicking papilledema in an infant with Joubert syndrome.

Joubert Syndrome is a rare autosomal recessive disorder characterized by absence or underdevelopment of the cerebellar vermis. Various ocular and oculomotor findings are frequently seen in cases with Joubert Syndrome. However, only three adolescent patients with Joubert Syndrome were diagnosed with optic disc drusen. Here we present an infant case of Joubert Syndrome referred with papilledema and diagnosed with optic disc drusen.

Assessment of optic nerve head drusen using enhanced depth imaging and swept source optical coherence tomography.

BACKGROUND: Optic nerve head drusen (ONHD) are calcific deposits buried or at the surface of the optic disc. Although ONHD may be associated with progressive visual field defects, the mechanism of drusen-related field loss is poorly understood. Methods for detecting and imaging disc drusen include B-scan ultrasonography, fundus autofluorescence, and optical coherence tomography (OCT). These modalities are useful for drusen detection but are limited by low resolution or poor penetration of deep structures. This review was designed to assess the potential role of new OCT technologies in imaging ONHD. EVIDENCE ACQUISITION: Critical appraisal of published literature and comparison of new imaging devices to established technology. RESULTS: The new imaging modalities of enhanced depth imaging optical coherence tomography (EDI-OCT) and swept source optical coherence tomography (SS-OCT) are able to provide unprecedented in vivo detail of ONHD. Using these devices it is now possible to quantify optic disc drusen dimensions and assess integrity of neighboring retinal structures, including the retinal nerve fiber layer. CONCLUSIONS: EDI-OCT and SS-OCT have the potential to allow better detection of longitudinal changes in drusen and neural retina and improve our understanding of drusen-related visual field loss.

Prevalence of optic disc drusen: A systematic review, meta-analysis and forecasting study.

Optic disc drusen (ODD) are calcium-containing deposits in the optic nerve head, capable of causing visual field defects and sudden visual loss. The underlying pathophysiology remains inadequately understood and treatment options are missing. In this paper, we systematically reviewed prevalence studies of ODD in non-selected populations to provide an overview of its prevalence, conducted meta-analyses to determine modality-specific prevalence estimates and performed a forecasting study to estimate current and future global population number of individuals with ODD. We searched 11 literature databases on 25 October 2022 for prevalence studies of ODD in non-selected populations. Eight eligible studies provided data from a total of 27 463 individuals. Prevalence estimates were stratified according to diagnostic modalities: ophthalmoscopy 0.37% (95% CI: 0.10-0.95%), fundus photography 0.12% (95% CI: 0.03-0.24%), spectral domain optical coherence tomography with enhanced depth imaging 2.21% (95% CI: 1.25-3.42%) and histopathology 1.82% (95% CI: 1.32-2.38%). Using histopathology-based summary prevalence estimate, we forecast 145 million individuals with ODD currently, a number expected to increase further due to world population growth. These numbers underscore the importance of including ODD in health education and highlight the necessity of continuing research in ODD.

Optic nerve head drusen in black patients.

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.

Juxtapapillary neovascular membrane associated with optic nerve drusen. / Membrana neovascular yuxtapapilar asociada a drusas del nervio óptico.

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

Retinal Arteriovenous Malformation Occlusion and Optic Nerve Drusen: Casuality or Causality?

Multimodal imaging of an impending retinal vein occlusion in an arteriovenous malformation associated with optic nerve drusen (OND) in a 16-year-old girl affected by Wyburn-Mason Syndrome. The authors seek to determine whether the association between the two entities has had an additive role in the acute retinal vascular event. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:418-419.].

Optic nerve head drusen and idiopathic intracranial hypertension in a 14-year-old girl.

A 14-year-old girl had a 3-month history of headache and blurred vision. Funduscopy showed bilateral optic disc edema. Findings on brain imaging were normal, and a diagnosis of idiopathic intracranial hypertension was confirmed after lumbar puncture showed an elevated opening pressure of 32 cm H(2)O. Optic nerve head drusen were noted on computed tomography scan and confirmed with B-scan ultrasound. After 2 years, resolution of symptoms coincided with variable compliance to treatment with acetazolamide and concomitant papilledema. In general, optic disc edema poses a clinical conundrum due to the more common occurrence of optic nerve head drusen, potentially resulting in delayed diagnosis and treatment of idiopathic intracranial hypertension.

[Treatment of optic neuropathies--state of the art]. / Therapie von Sehnerverkrankungen--der aktuelle Stand.

Optic nerve diseases have various causes and are together with macular degeneration the most common causes of severe irreversible visual dysfunction. Apart from glaucoma, which will not be discussed in this review, the most common categories are inflammatory, ischaemic, compressive, toxic, hereditary, and neoplastic. They all share optic atrophy as a common end stage as well as the fact that treatment options are rather hampered, partially due to the fact that the molecular mechanisms of axonal loss are yet not understood well enough. This review covers most optic nerve diseases and places special emphasis on the use of corticosteroids in optic neuritis, ischaemic optic neuropathy and traumatic optic neuropathy.

Asymptomatic peripapillary subretinal hemorrhage: a study of 10 cases.

BACKGROUND: Peripapillary subretinal hemorrhage (PSH) is often found together with optic disc drusen, optic disc edema, peripapillary subretinal neovascular membranes, vitreous traction, and bleeding diatheses. Previous reports have stated that such optic disc hemorrhages are associated with intrapapillary bleeding largely in patients of Asian origin who are visually symptomatic from this process. We have encountered patients with PSH who have clinical features that differ from those described in these reports. METHODS: This is a retrospective observational case series. Medical records of 10 patients with isolated peripapillary subretinal hemorrhages were reviewed for clinical characteristics and ancillary testing, including demographics, history, complete eye examination, visual fields, fundus photos, ultrasound, and fluorescein angiography (four patients) at presentation and follow-up. We excluded patients with drusen, neovascular membranes, disc edema, and intrapapillary hemorrhages. RESULTS: There were 10 patients, all white women without visual symptoms, who had isolated, monocular, nasal, or superonasal peripapillary subretinal hemorrhage, a dysplastic crowded-tilted optic disc, myopia, and normal visual function. The hemorrhages resolved without sequelae over 3-6 months. The findings were frequently discovered on routine examination and suspected of representing papilledema. CONCLUSIONS: We have described a benign syndrome of isolated PSH in crowded and tilted optic discs in myopic eyes of white women. The PSHs do not cause visual symptoms and resolve spontaneously. We propose that an interplay of ocular motor forces, scleral thinning, and vitreopapillary traction acting on a morphologically vulnerable optic disc explains these hemorrhages.

Optic disc drusen: understanding an old problem from a new perspective.

Optic disc drusen (ODD) are acellular deposits located in the optic nerve head of up to 2.4% of the population. They may develop as by-products of impaired axonal metabolism in genetically predisposed individuals, in whom a narrow scleral canal is hypothesized to play a role. Although ODD are often considered as benign innocent bystanders, recognized as part of a routine ophthalmological examination, the vast majority of patients with ODD have visual field defects. Optic disc drusen (ODD)-associated complications with severe visual loss, most often due to anterior ischaemic optic neuropathy, are also known to occur. There are no treatments available to prevent or ameliorate the vision loss caused by ODD. In children, the ODD are usually uncalcified and buried within the optic nerve head tissue. In these cases, the condition can be difficult to diagnose, as it often resembles a papilloedema with optic nerve head swelling caused by raised intracranial pressure. During the teenage years, the ODD progressively become more calcified and probably also larger, which allow them to be visible on ophthalmoscopy. With the advent and proper utilization of high-resolution modalities of optical coherence tomography (OCT), it has now become possible to detect even the smallest and most deeply located ODD. This allows for ODD detection at a much earlier developmental stage than has previously been possible and enhances the possibilities of research in underlying mechanisms. A review of the literature on ODD was conducted using the PUBMED database. The review focuses on the current knowledge regarding pathogenesis, diagnostics, clinical disease-tracking methodologies, structure-function relationships and treatment strategies of ODD.

Bilateral disc drusen in a diabetic patient simulating diabetic papillopathy as a cause of disc edema.

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.

Spectrum of pattern dystrophy in pseudoxanthoma elasticum.

OBJECTIVE: To study the prevalence, type, and features of pattern dystrophy in patients with pseudoxanthoma elasticum (PXE). METHODS: A search of the photographic records at the Vanderbilt Eye Institute using the keywords "angioid streaks and pseudoxanthoma elasticum" yielded 28 names. Of the 23 subjects meeting the patient selection criteria, 22 were confirmed to have a positive diagnosis for PXE after reviewing the medical history information. The diagnosis was confirmed by the constellation of fundus findings in all 22 subjects, by a clinical examination of the skin in 9, and by a skin biopsy specimen in 1. RESULTS: Pattern dystrophy was present in 16 patients (27 eyes) of those with PXE. Fourteen patients (23 eyes) had fundus pulverulentus, 3 patients (5 eyes) had butterfly-shaped dystrophy, and 1 patient (2 eyes) each had fundus flavimaculatus and reticular dystrophy. One eye of one patient developed solitary vitelliform pattern dystrophy during follow-up. Two patients showed progression from one pattern into another during follow-up. Another patient, who at first showed no evidence of pattern dystrophy in either eye, developed fundus pulverulentus in both eyes 5 years later. One patient had simultaneous evidence of 2 types: butterfly and fundus flavimaculatus pattern in each eye. Angioid streaks were seen in each eye of all patients. Peau d'orange was noted in 18 patients, optic nerve drusen in 5, and retinal crystalline bodies in 9. Choroidal neovascular membrane was present in 15 patients. CONCLUSIONS: All 5 varieties of pattern dystrophy, 2 of which were not previously associated with PXE, were seen in patients with PXE. Fluorescein angiogram was useful in delineating the type and extent of pattern dystrophy.

Measurement of the scleral canal using optical coherence tomography in patients with optic nerve drusen.

PURPOSE: The etiology of optic nerve drusen (OND) is unknown. A leading hypothesis is that eyes with OND have a small scleral canal. The small scleral canal presumably leads to optic nerve fiber compression, ganglion cell degeneration, extrusion of axonal mitochondria, and calcification of the extruded mitochondria. To determine if subjects with OND have scleral canals that are smaller than subjects without OND, we used optical coherence tomography (OCT) to measure the scleral canal in subjects with and without OND. DESIGN: Prospective, observational case control study. METHODS: The study was conducted with subjects recruited from the clinics of the John A. Moran Eye Center, University of Utah Department of Ophthalmology and Visual Sciences. The study population included 25 subjects with OND, 13 unaffected first-degree relatives of OND subjects, and 17 control subjects. All subjects underwent measurement of the scleral canal with OCT. The main outcome measure was the scleral canal area calculated by OCT. RESULTS: The average areas of the scleral canals were as follows: control eyes: 1.832 mm(2), unaffected eyes of subjects with unilateral OND: 1.836 mm(2), eyes of unaffected first-degree relatives: 2.067 mm(2), and eyes with OND: 2.520 mm(2). The scleral canal area of unaffected eyes of subjects with unilateral drusen was not significantly different from the control. The eyes of first-degree relatives and eyes with OND both had scleral canal areas significantly larger than the control. CONCLUSIONS: Scleral canal size is probably not an etiologic factor in the pathogenesis of OND.

Optic disc drusen in tilted disc.

PURPOSE: To investigate if a congenital anomaly of the head of the optic nerve like such as tilted disc can be a risk factor for the development of optic disc drusen. METHODS: The study was performed retrospectively on the files of 47 patients with optic disc drusen. The diagnosis was confirmed by fluorescein angiography and B-scan ultrasonography. The authors examined the fundus photographs and the fluorescein angiographies of these patients looking for the presence of tilted discs. RESULTS: Two of the 47 patients with optic nerve drusen had tilted discs as well, about twice the expected rate. Both cases presented a parapapillary hemorrhage. CONCLUSIONS: The concomitant presence of tilted disc and optic disc drusen can have a cause-effect relationship. The axonal crowding in a scleral canal of reduced size, as seen in tilted disc, can compress the nerve fibers against the stiff lamina cribrosa, producing a chronic optic neuropathy leading to drusen.