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.

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.

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.].

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

CASO CLÍNICO: Paciente de 14 años de edad concurre refiriendo una disminución progresiva de la agudeza visual del ojo izquierdo de 3 meses de evolución. Al examen presenta drusas de papila bilateral, asociadas a membrana neovascular yuxtapapilar, que comprometen seriamente la visión y el campo visual del ojo izquierdo. RESULTADO: El tratamiento con 3 inyecciones consecutivas de ranibizumab intravítreo resultó en la inactivación de la membrana neovascular con reabsorción de líquido subretiniano y mejora de la agudeza visual mejor corregida del ojo izquierdo. Después de 9 meses de seguimiento, esta fue 20/20 y estable. CONCLUSIÓN: Si bien las drusas de la cabeza del nervio óptico son consideradas benignas, las membranas neovasculares pueden ser una complicación. Los anti-VEGF son una alternativa eficaz para el tratamiento

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

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.

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.

Drusa de nervo ótico associada à estafiloma peripapilar congênito / Optic disk drusen associated with congenital peripapillary staphyloma

Resumo Nós descrevemos uma rara associação entre estafiloma peripapilar congênito e drusa de disco óptico em uma mulher de 47 anos de idade e visão normal.

Abstract We described a rare association between peripapillary staphyloma and optic disk drusen in a woman with 47 years old and normal vision.

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.

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 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.

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.

Venous sinus stenting is a valuable treatment for fulminant idiopathic intracranial hypertension.

Over the past 10 years, transverse sinus stenting has grown in popularity as a treatment for idiopathic intracranial hypertension. Although promising results have been demonstrated in several reported series, the vast majority of patients in these series have been treated on an elective basis rather than in the setting of fulminant disease with acute visual deterioration. We identified four patients who presented with severe acute vision loss between 2008 and 2012 who were treated with urgent transverse sinus stenting with temporary cerebrospinal fluid (CSF) diversion with lumbar puncture or lumbar drain as a bridge to therapy. All patients presented with headache, and this was stable or had improved at last follow-up. Three patients had improvement in some or all visual parameters following stenting, whereas one patient who presented with severe acute vision loss and optic disc pallor progressed to blindness despite successful stenting. We hypothesize that she presented too late in the course of the disease for improvement to occur. Although the management of fulminant idiopathic intracranial hypertension remains challenging, we believe that transverse sinus stenting, in conjunction with temporary CSF diversion, represents a viable treatment option in the acute and appropriate setting.

Retinal hemorrhages as one of complications of optic disc drusen during pregnancy.

INTRODUCTION: Drusen of the optic nerve head are relatively benign and asymptomatic. They represent retinal hyaline corpuscles resulting from impaired axoplasmic transport of the retinal ganglion cells of optic nerve in front of the lamina cribrosa. They are usually detected accidentally, during a routine ophthalmologic examination. Most patients with optic disc drusen are not aware of the deterioration of their eyesight because of the slow progression of visual field defects. Damage in visual acuity due to optic disc drusen is rare. CASE REPORT: A 27-year-old female patient in the sixth month of pregnancy visited an ophthalmologist because of a visual impairment described as the appearance of mist and shadows over her right eye. When first examined, her visual acuity in both eyes was 20/20. The retinal hemorrhages framing the bottom half of the optic nerve were seen. Complete laboratory and clinical testing as well as specific ophthalmic examinations (photofundus, computerized visual field, optical coherence tomography, and ultrasound) were performed to exclude systemic causes and they presented no risk for the pregnancy. Echosonographic examination confirmed the presence of bilateral optic nerve head drusen. CONCLUSION: Hemodynamic changes during pregnancy are possible factors for the development of optical disc and retinal hemorrhages. Since treatment of optic disc drusen is limited, recognition of optic nerve drusen as a cause of hemorrhage during pregnancy prevents unnecessary diagnostic and therapeutic interventions.

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.

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

PURPOSE: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds. METHODS: Ophthalmological examination, general paediatric examination and molecular genetic analysis of the MFRP gene were performed in both affected siblings. RESULTS: Clinical analysis showed high hyperopia (+11 D and +12 D), short axial lengths (15 mm) and the presence of macular folds and optic nerve head drusen. Autofluorescence of the retina was generally normal with subtle macular abnormalities. Sequence analysis showed compound heterozygosity for severe MFRP mutations in both sisters: a previously reported p.Asn167fs (c.498dupC) and a novel stop codon mutation p.Gln91X (c.271C>T). CONCLUSION: These are the youngest nanophthalmos patients in the literature identified with severe loss of MFRP function, showing already the known structural abnormalities for this disease. Adult patients affected by homozygous or compound heterozygous MFRP mutations generally show signs of retinal dystrophy, with ERG disturbances and RPE abnormalities on autofluorescence imaging. ERG examination could not be performed in these children, but extensive RPE abnormalities were not seen at this young age.

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.