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Purpose: To determine whether the diameter of Bruch's membrane opening (BMO) can distinguish mild papilledema from pseudopapilledema using optical coherence tomography (OCT)., Methods: The medical records of pediatric patients with pseudopapilledma due to optic nerve head (ONH) drusen, patients with papilledema, and normal control subjects were retrospectively reviewed. All eyes underwent OCT imaging of the BMO and retinal nerve fiber layer (RNFL). Transverse horizontal diameter of the BMO and papillary height were measured. Mean BMO, papillary height, and RNFL were compared and receiver operating characteristic (ROC) curves were used to calculate the area under the curve (AUC) and determine BMO and RNFL cut-offs for papilledema and pseudopapilledema., Results: A total of 90 eyes of 90 subjects were included: 58 with pseudopapilledema, 19 with papilledema, and 13 controls. In eyes with papilledema, mean BMO, papillary height, and RNFL decreased as papilledema resolved (1893.8 vs 1582.2 [P = 0.0003], 193.0 vs 108.9 [P < 0.0001], 893.3 vs 695.5 [P = 0.0007], resp.). Eyes with mild papilledema had greater mean BMO and RNFL than those with pseudopapilledema and controls (1893.8 vs 1541.9 vs 1628.8 [P < 0.0001, P = 0.0265] and 193.0 vs 108.7 vs 104.1 [P < 0.0001, P < 0.0001], resp.). Papillary height in mild papilledema was similar to pseudopapilledema but greater than controls (893.3 vs 863.2 vs 593.5 [P = 0.47 and P = 0.0001], resp.). ROC showed good diagnostic discrimination for BMO (AUC = 0.81; 95% CI, 0.70-0.92) and RNFL (AUC = 0.96; 95% CI, 0.93-1.0) in distinguishing mild papilledema from pseudopapilledema., Conclusions: The horizontal transverse diameter of BMO is enlarged in eyes with mild papilledema and narrows as papilledema resolves. BMO and RNFL can be used together to help distinguish mild papilledema from pseudopapilledema in children., (Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Optic disc drusen may be a cause of visual field defects and visual loss. The mechanism by which this occurs is unclear. We report a patient who developed decreased vision in the right eye and was found to have a heavy burden of superficial optic disc drusen. Optical coherence tomography (OCT) confirmed focal retinal nerve fiber layer thinning that corresponded with the distribution of drusen. OCT angiography, with superficial laminar segmentation, showed focal capillary attenuation overlying the most prominent drusen. These findings demonstrate alterations in the superficial retinal capillary network associated with optic disc drusen.

Introduction: Optic nerve head drusen are congenital calcium deposits located in the prelaminar section of the optic nerve head. Their association with visual field defects has been classically described, but the diagnosis of glaucoma is not easy in these cases of altered optic nerve head anatomy., Case Study: We describe the case of a 67-year-old man with optic nerve head drusen complicated by glaucoma, which was confirmed by visual field and OCT examination of the peripapillary retinal nerve fiber layer (RNFL), but the measurement of the minimum distance between the Bruch membrane opening and the internal limiting membrane (minimum rim width, BMO-MRW) by OCT was normal., Discussion: OCT of the BMO-MRW is a new diagnostic tool for glaucoma. Superficial optic nerve head drusen, which are found between the internal limiting membrane and the Bruch's membrane opening, overestimate the value of this parameter., Conclusion: BMO-MRW measurement is not adapted to cases of optic nerve head drusen and can cause false-negative results for this parameter, and the diagnosis of glaucoma in this case should be based on other parameters such as the presence of a fascicular defect in the retinal nerve fibers, RNFL or macular ganglion cell complex thinning, as well as visual field data., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Purpose: To examine long-term data on optic disc drusen (ODD) from an outpatient hospital series that indicated more cases with advanced visual field constriction than is apparent from other clinical reports. The underlying pathophysiology is discussed, also with regard to enlarged blind spot, which, in view of the small disc at risk, may seem a paradox., Methods: This is an observational retrospective study on an eye clinic series (n = 49), focusing on visual acuity, kinetic/static perimetry, and longitudinal trends, to include the question of eventual visual incapacity., Results: Forty-nine patients (32 female and 17 male; bilateral ODD in 45) aged 5-76 years (median age 29 years for both sexes) were included in the study. Observation time was 1-54 years, with serial data recorded over at least 3 years in 25 patients. Visual field defects were found in 32 patients, with ODD considered responsible for the visual field defects demonstrated. Advanced unilateral concentric constriction (for the largest Goldmann object) was recorded in 10 patients, and bilaterally in 2. With regard to nonexplanatory side diagnoses, 2 patients had pituitary adenoma, 1 had a cavernous sinus meningioma, and 1 had neurosurgery for an arachnoid cyst., Conclusions: We found more cases of marked visual field constriction than reported in other clinical series. A few such cases appeared acute and vascular, but the main trend was clinically quiet over time. All 49 patients could manage visually in daily life.

Purpose: To compare optical coherence tomography angiography (OCT-A) with traditional multimodal imaging in patients with Malattia Leventinese., Design: Retrospective case series., Methods: Eight eyes of 4 consecutive patients with Malattia Leventinese were retrospectively studied. All patients underwent a complete ophthalmologic examination including color fundus photography, fluorescein and indocyanine green angiographies, spectral-domain optical coherence tomography, and optical coherence tomography angiography., Results: The choriocapillaris segmentation of OCT-A revealed the presence of a hyperflow signal corresponding to active choroidal neovascularization in 3 eyes and inactive choroidal neovascularization in 1 eye. Traditional multimodal imaging did not show each vascular layer and any leakage in these cases., Conclusion: OCT-A, unlike traditional multimodal imaging, helps diagnose choroidal neovascularization in patients with Malattia Leventinese suffering from metamorphopsia and reduced visual acuity., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Purpose: To investigate choriocapillaris (CC) alteration in patients with nascent geographic atrophy (nGA) and/or drusen-associated geographic atrophy (DAGA) using swept-source optical coherence tomography angiography (OCTA)., Methods: A 1,050-nm wavelength, 400 kHz A-scan rate swept-source optical coherence tomography prototype was used to perform volumetric swept-source optical coherence tomography angiography over 6 mm × 6 mm fields of view in patients with nGA and/or DAGA. The resulting optical coherence tomography (OCT) and OCTA data were analyzed using a combination of en face and cross-sectional techniques. Variable interscan time analysis (VISTA) was used to differentiate CC flow impairment from complete CC atrophy., Results: A total of 7 eyes from 6 patients (mean age: 73.8 ± 5.7 years) were scanned. Seven areas of nGA and three areas of DAGA were identified. Analysis of cross-sectional OCT and OCTA images identified focal alterations of the CC underlying all seven areas of nGA and all three areas of DAGA. En face OCTA analysis of the CC revealed diffuse CC alterations in all eyes. Variable interscan time analysis processing suggested that the observed CC flow alterations predominantly corresponded to flow impairment rather than complete CC atrophy., Conclusion: The OCTA imaging of the CC revealed focal CC flow impairment associated with areas of nGA and DAGA, as well as diffuse CC flow impairment throughout the imaged field. En face OCT analysis should prove useful for understanding the pathogenesis of nGA and DAGA and for identifying the formation of nGA and DAGA as endpoints in therapeutic trials., Competing Interests: There are no conflicting relationships for any other author.

In a case of Malattia Leventinese, optical coherence tomography angiography led to the diagnosis of type 1 neovascularization, despite absence of evidence on conventional dye-based angiography. The authors hypothesize that, at least in some cases, accumulation of subretinal fluid in Malattia Leventinese could be due to a subretinal pigment epithelium (RPE) neovascular component rather than creation of hydrophobic barrier at the RPE and Bruch's membrane. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:602-604.]., (Copyright 2016, SLACK Incorporated.)

Purpose: To describe two cases of choroidal hemorrhage caused by optic disk drusen-induced choroidal neovascularization simulating uveal melanoma., Methods: Observational case reports of two patients and brief review of the literature., Results: Two patients were referred with pigmented juxtapapillary lesions concerning for choroidal melanoma. Multimodal imaging revealed the presence of optic disk drusen with overlying choroidal neovascular membranes and peripapillary choroidal hemorrhage. Both patients were treated with antivascular endothelial growth factor and the lesions resolved., Conclusion: In the setting of diagnostic uncertainty, careful multimodal imaging can assist in distinguishing between malignant choroidal melanoma and a benign simulating lesion. Optic disk drusen with associated neovascularization and hemorrhage should be included in the list of pseudomelanomas.

A 25-year-old man with X-linked retinoschisis presented with multiple giant optic nerve head drusen and multiple retinal drusenoid deposits in one eye. There was an area of coarse pigmentation in the lower half of the retina, with convex upper borders extending on either side of the optic disc, suggestive of a spontaneously resolved retinal detachment. The possible aetiopathogenesis of such occurrence is discussed., (2016 BMJ Publishing Group Ltd.)

Unlabelled: The aim of the study was to analyze the group of patients with optic disc drusen focusing on possible complications of this disease., Material and Methods: In our group of patients, we examined 46 eyes of 23 patients with the suspicion of optic disc drusen during the period from May 2013 until January 2014. In all adult patients, we examined the anterior and posterior segment of the eye biomicroscopically, established the visual acuity, measured the intraocular pressure, examined the visual field, performed the ultrasound examination of the eye (A and B-scan), analyzed the retinal nerve fiber layer (RNFL) by means of optic coherence tomography (OCT), and color and red-free photography. According to the biomicroscopical findings, the drusen were divided into invisible drusen (buried drusen) (verified by ultrasound only) - grade 0, visible delicate drusen - grade I, and multiple drusen (conglomerates) - grade II., Results: Out of 23 patients, 14 were women and 9 were men. The age of the patients ranged from 8 to 82 years, the mean age was 44.4 years. In the group, there were 3 children (8, 11, and 13 years). In twenty-two patients, the drusen were present bilaterally, and one female patient had drusen on the right eye only. The grade of the drusen was set from 0 to II in all 45 eyes according to their amount, location, and visibility. As grade 0 were evaluated drusen in 11 patients; out of them, 10 patients had drusen bilaterally, and one female patient unilaterally. Out of these 11 patients, three were children. Grade I optic disc drusen bilaterally had nine patients, and three patients had drusen grade II bilaterally. In grade 0 drusen, no defect of the visual field was noticed. In drusen grade I, it was noticed the defect of the visual field in two patients (four eyes) out of nine patients, and in grade II the defect was present in two out of three patients (three eyes). The evaluation of the RNFL, by means of OCT, was performed among all three groups according to their grade 0 - II. In higher grades, the thickness of the RNFL was lower. Comparing to drusen grade 0, the drusen grade I, and II presented serious thinning of the RNFL superiorly. In three patients (drusen grade 0 and I) other complications of the optic disc drusen were observed. In one female patient with drusen grade I, there was decrease of the visual acuity due to the partial intravitreal hemorrhage in her left eye and parapapillary located retinal hemorrhages. In one male patient with drusen grade 0 was bilateral decrease of the VA due to cystoid macular edema caused by drusen. This patient had also retinal hemorrhages located near the papilla and partial intravitreal hemorrhage in his worse left eye. In one female patient with the drusen grade 0, the tortuous veins were noticed., Conclusion: Drusen of the optic disc are present in 0.3 - 1.0 % of the population, and are bilateral in approximately 75 - 91 % of the cases. It is important to distinguish optic nerve disc drusen from the papiledema. Drusen of the optic nerve can cause severe defects of the visual field, decrease of the retinal nerve fiber layer, and may be accompanied by vessels complications. Patients with the optic disc drusen should regularly undergo ophthalmologic examinations focused on the intraocular pressure, visual field testing, and retinal fiber layer analysis. In patients with visual field defect and borderline values of intraocular pressure, the antiglaucomatic therapy is recommended., Key Words: optic disc drusen, intraocular pressure, visual field, ultrasound, retinal nerve fiber layer analysis, complications of the optic disc drusen.

Unlabelled: In the case report, bilateral cystoid macular edema with optic disc edema on the left side in young man is described. As etiology out of the systemic diseases, we considered the hypertension. The results of the neurological examination, including the brain CT examination were physiological. The patient was examined by the internal specialist, the hypertension was treated - and it was the presumed etiology of the ophthalmologic findings. Due to the repeated worsening of the ophthalmologic findings, we searched for other etiology. Bilateral buried optic disc drusen were found by means of ultrasound. Bilateral cystoid macular edema and optic disc edema were evaluated as signs of circulatory disturbance of the posterior ciliary arteries and macular choroid caused by optic disc drusen. The antiglaucomatic treatment was started with - alpha 2 adrenergic receptors agonist - brimonidine - which increases the blood supply of the optic nerve and decreases the intraocular pressure with presumed delay of axons dysfunction., Key Words: macular edema, optic disc drusen, intraocular pressure, visual field, ultrasound.

Purpose: To evaluate the incidence of visual field defects and choroidal neovascular membranes (CNVM) in a cohort of pediatric patients with optic nerve head drusen (ONHD)., Methods: The medical records of children with ONHD seen at a single center from January 2012 to July 2014 were retrospectively reviewed to identify patients who had a dilated fundus examination, fundus photography, spectral domain optical coherence tomography (SD-OCT)/enhanced-depth imaging (EDI) of the optic nerve head (ONH), SITA fast 24-2 Humphrey visual field (HVF) testing, lumbar puncture, and ocular ultrasound. A masked neuro-ophthalmologist analyzed fundus photographs, OCT, and fields. Retinal nerve fiber layer (RNFL) data were compared to age-matched controls., Results: A total of 52 children (98 eyes) were included. Mean age was 10.8 ± 3.3 years. Of these, 42 patients had visual fields (57 eyes deemed reliable), and 19 eyes had documented visual field deficits (8 were reproducible across ≥1 sitting [frequency 14%]). After correction of plotting errors (40 eyes), RNFL thickness was 111.9 ± 17.9 μm. CNVM were present in 24 of 98 eyes (24.5%), with 21 of 24 located nasally (87.5%). Neither RNFL thinning nor identification of ONHD on fundus photography correlated with the presence of visual field defects., Conclusions: Visual field defects due to ONHD can be reliably identified in children. In eyes of children with ONHD, RNFL protocol is frequently unreliable and may overestimate RNFL thickness. EDI scans through the ONH revealed peripapillary CNVM in nearly a quarter of the patients. Further longitudinal studies looking at the progression of CNVM and visual field deficits are warranted., (Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

We present a case of Retinitis Pigmentosa with atypical aspect of fundus (Punctata Albescens), associated with Cystoid Macular Oedema and Optic Disc Drusen.

Cases Report: Two patients presented with headache and bilateral papillary edema. Patient 1 was found to have a papilledema (P) with intracranial pressure of 32cmH2O. Patient 2 was found to have a migraine with a pseudopapilledema (PP) (optic nerve head drusen). SD-OCT was used to image the optic disc, subretinal hyporeflective space (SHS), and alpha-angle (Aα)., Discussion: Optic disc SD-OCT may be useful for differentiating disc morphology in P and PP. The area of the SHS and the Aα were higher in the P patient than in the patient with PP., (Copyright © 2014 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.)

Purpose: To present a case report with "unclear" and sudden decrease of left eye visual acuity and bilateral visual fields defects., Methods: A case report., Case Presentation: A 66-year-old woman was referred to our Center of Neuroophthalmology and Orbitology by a neurologist for a history of sudden decrease of visual acuity of her left eye 3 years ago. From September 2009, she was examined at various and not only ophthalmology departments. One by one the optic nerve neuritis, traumatic, compressive or toxic neuropathy and also nutritive neuropathy because of vitamin B(12) deficiency were excluded. The patient underwent also a genetic examination for Lebers hereditary optic nerve neuropathy, but this diagnosis was not confirmed. On magnetic resonance imaging, an atrophy of both optic nerves was described, with no further progression found during the follow-up examination after one year. In available patients medical records we found out that on optical coherence tomography scans optic disc drusen of the both eyes are visible, but this wasnt described in the records. Also, an examination of Visual Evoked Potential was performed - this confirmed the diagnosis of optic disc drusen. However, our patient was further examined for visual lost of the left eye. At the time of presentation (January, 2014), her best-corrected visual acuity of the right eye was 0.5, and counting fingers at 50 cm distance with correct light projection in the left eye. Static perimetric examination demonstrated bilateral and concentric narrowing of visual fields. The eyes were parallel, with no limitation of their movements in any direction. The patient was without diplopia, the direct pupil reactions to the light were sluggish bilaterally, and anterior segments of both eyes were with no pathologies. Examination of the fundus revealed bilateral findings of pale optic disc with absent optic cup and indistinct "lumpy" margins. Waxy pearl-like irregularities of the papila of both eyes were visible even without pupil dilatation. Bilateral optic disc drusen were confirmed by ultrasonography, fundus autofluorescence and spectral-domain optical coherence tomography., Conclusion: Optic disc drusen are often asymptomatic, frequently it is an accidental finding during the biomicroscopy of fundus due to ordinary eye examination. Rarely, optic disc drusen can cause blood circulation failure on the optic disc with typical defects of the visual field. Thats why we shouldnt forget the optic disc drusen in the differential diagnosis considerations.

Case Report: We describe a case of a young patient with bilateral optic disc drusen, who in the course of 10 months, had a sudden visual field constriction in the right eye accompanied by moderate loss of vision, corresponding to the ophthalmological examination of changing from hidden to visible drusen., Discussion: The optic disk drusen are a fairly common disorder that is mainly considered as a benign disorder due to the low frequency of complications that appear during their course. This case shows how they can become a real problem in a short period of time., (Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.)

We present 2 cases of asymptomatic patients who were found to have raised and blurred optic discs on physical examination, suggestive of papilledema. Evaluation in the emergency department revealed 2 well-appearing children with normal vital signs and neurologic evaluation results, without symptoms of increased intracranial pressure. Point-of-care ocular ultrasonography was performed on both children, demonstrating calcification at the optic nerve, which is diagnostic of optic disc drusen. Optic disc drusen is caused by the deposition of calcified axonal debris and is often buried within the optic disc in pediatric patients. It can cause some changes in visual acuity and visual fields, but patients who are otherwise asymptomatic can be easily diagnosed through point-of-care ultrasound, thereby sparing patients an aggressive workup if their clinical picture is otherwise reassuring.

Optic nerve head drusen (ONHD) are incidental ophthalmologic finding in the optic nerve. Patients with ONHD are often asymptomatic, but sometimes present with transient visual obscuration's (TVO), the reported incidence of which is 8.6%. Optic nerve head drusen are of two types: Superficial; visible and deep. The deep-buried drusen mimic papilledema. Because of the varied presentation deep-buried drusen pose a diagnostic challenge to the ophthalmologists. In young patients, they are mistaken for papilledema as it is clinically difficult to detect a buried drusen in the optic nerve head, but are seen on the surface with aging as the retinal nerve fiber layer thins out. They are observed as pale yellow lesions more often located towards the poles. Clinical examination aided with diagnostic tests like computed tomography (CT) orbits and ultrasound B scan can help establish the diagnosis. Herein, we report a rare case of optic nerve head drusen in a young lady, who presented with loss of vision and clinical evaluation and investigations suggested ONHD with anterior ischemic optic neuropathy.

Purpose: To describe the clinical features of hemorrhagic complications secondary to optic nerve head drusen (ONHD) using spectral domain optical coherence tomography (SD-OCT)., Methods: 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., Results: 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., Conclusion: 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.

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.

Optic nerve head drusen are acellular, calcified deposits which may be found in buried or exposed drusen form. Choroidal neovascularisation secondary to optic nerve head drusen is rarely seen in childhood. This case report summarises the clinical and therapeutic outcomes of a 13-year-old girl with unilateral choroidal neovascularisation secondary to optic nerve head drusen. The patient was successfully treated with a single intravitreal ranibizumab injection. After a month from the injection the visual acuity increased dramatically and maintained at the same level during 9 months of follow-up time. There was no complication related to the injection.

Purpose: To assess the efficacy of using autofluorescence to identify optic nerve head drusen (ONHD) in children., Methods: We conducted a cross-sectional, descriptive study of subjects <18 years of age with possible pseudopapilledema due to ONHD. B-scan ultrasonography was considered the gold standard diagnostic technique. All participants underwent an extensive ophthalmic examination that included fundus color photography, autofluorescence analysis, and B-scan echography. ONHD were classified as visible or hidden. Autofluorescence images were analyzed by three observers who were masked to the results of B-scan ultrasonography., Results: A total of 24 children with pseudopapilledema were included. B-scan ultrasonography confirmed ONHD in 32 eyes of 18 patients (9 boys). Mean patient age was 12 years (range, 7-17 years). ONHD was bilateral in 14 patients; unilateral in 4. The majority of the drusen were hidden (26 of 32 eyes). Analysis of autofluorescence patterns identified the drusen in 94% of cases (30 of 32 eyes): visible, 100%; hidden, 92%. Interobserver agreement was high (κ = 0.91, κ = 0.96, κ = 0.89)., Conclusions: In this study cohort, autofluorescence proved a safe, fast, and reliable technique for identifying ONHD in children., (Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Background: Optic nerve head drusen (ONHD) are deposits due to abnormalities in axonal metabolism and degeneration. Studies so far have focused on adults. Our aim was to study the effect of ONHD on visual function as well as optic nerve head structure using optical coherence tomography (OCT) in children., Methods: Subjects younger than 18 years of age with ONHD and who had a reliable visual field defect in at least one eye due to ONHD were considered for inclusion. All subjects underwent an extensive ophthalmic examination including best-corrected visual acuity (BCVA), funduscopy, and SITA 24-2 standard automated perimetry. OCT scanning was performed using Cirrus-HD Model 4000. Retinal nerve fiber layer (RNFL) thickness data were compared with a group of age-matched healthy children., Results: Fifteen children were included, with a mean age of 13 years (range 7 to 17 years). BCVA was 1.0 in all eyes, except in a child with concomitant esotropia. ONHD were bilateral in 13 children. Among the 28 eyes with ONHD, 12 (43%) were classified as type 1 (buried), eight (29%) as type 2 (ringed) and eight (29%) as type 3 (superficial). All children had a visual field defect in at least one eye, according to the inclusion criteria; however, two eyes (7%) had no defect in spite of the presence of ONHD. Five eyes showed an isolated enlarged blind spot (18%), 15 cases showed a nasal defect (54%), and six eyes showed a constricted visual field (21%). RNFL thickness was higher in type 1 and 2 ONHD than in the control group, although these differences were only significant for the average, superior, and inferior quadrant thicknesses in type 1 and the inferior quadrant in type 2. RNFL thickness was lower in type 3 ONHD than in the control group, although these differences were only significant for the average, superior, and nasal quadrant thicknesses., Conclusions: ONHD may lead to the development of visual field defects, even in children. In initial stages, ONHD produce an increase in RNFL thickness as measured with OCT. As drusen develop and become superficial, the RNFL thickness decreases. The temporal quadrant is often undamaged, probably reflecting the preservation of central visual acuity.

Characteristics of ocular blood flow (OBF) in primary open-angle glaucoma (POAG) in eyes with optic disc drusen have been investigated. The study enrolled 21 patient (35 eyes) with optic disc drusen, of which 7 (8 eyes) were diagnosed with POAG. Besides the standard tests, the ophthalmological assessment included evaluation of OBF (flowmetry) and an individual normal range of intraocular pressure (IOP). The results showed that optic disc drusen are not associated with OBF changes. Concomitant POAG might be suspected in a patient with optic disc drusen whose OBF is significantly decreased and IOP is above the individual normal range. Differentiation of morphofunctional changes in chronic optic neuropathy, which might be due to either glaucomatous optic neuropathy or optic disc drusen, is complicated when actual IOP lies within the average normal range. Ocular blood flow evaluation by means of flowmetry with calculation of an individual normal range of IOP has been demonstrated as a highly effective predictor of concomitant POAG in patients with optic disc drusen.

Aim: The aim of our research was to describe the effect of an off-label intravitreal ranibizumab injection for treatment of unilateral extrafoveal choroidal neovascularization a with bilateral optic nerve drusen., Material and Methods: 13-year-old girl presented with decreased visual acuity of her left eye and optic nerve drusen confirmed by B-scan ultrasound examination in both eyes. Fluorescein angiography and optical coherence tomography revealed the presence of choroidal neovascularization in the left eye. The patient was treated with a single injection of ranibizumab and monitored by clinical examination, optical coherence tomography and fluorescein angiography., Results: Choroidal neovascularization was successfully treated and the best corrected visual acuity (Snellen) fully recovered from 20/50 to 20/20 over a period of 2 months. After this time at the 30 months follow-up, visual acuity and fundus were stable without the recurrence of choroidal neovascularization., Conclusions: Optic nerve drusen should be taken into account and carefully observed as a possible cause of peripapillary choroidal neovascularization in children. Ranibizumab can be a successful off-label treatment in children suffering from choroidal neovascularization associated with optic nerve drusen.

Background: To assess the efficacy of quantitative analysis of the optic nerve head and peripapillary retinal nerve fiber layer (RNFL) with the spectral-domain optical coherence tomography (SD-OCT) in differentiating optic disc edema (ODE) from optic nerve head drusen (ONHD)., Methods: Prospective clinical study. Twenty-five eyes of 25 ODE patients (group 1), 25 eyes of 25 ONHD patients (group 2), and 25 eyes of 25 healthy subjects were included. The thickness of the peripapillary RNFL, the thickness of the subretinal hyporeflective space (SHYPS), the area of the SHYPS, the horizontal length of the optic nerve head, and the angle between the temporal RNFL and the optic nerve head (α-angle) were evaluated with SD-OCT., Results: The mean RNFL thickness was significantly greater in group 1 when compared with group 2 and control group (P < 0.001). The receiver operating characteristic curve areas for temporal and nasal RNFL thicknesses in differentiating group 1 and group 2 were 0.819 and 0.851, respectively (for temporal RNFL thickness >101.5 μm: sensitivity 92%, specificity 65%; for nasal RNFL thickness >74.5 μm: sensitivity 92%, specificity 47%). The mean SHYPS thickness, SHYPS area, and degree of the α-angle were greater in group 1 when compared with group 2 (P < 0.05). For the SHYPS thickness >464 μm: 85% sensitivity and 60% specificity; for the SHYPS area >811 μm: 85% sensitivity and 89% specificity; and for the α-angle >141°: 77% sensitivity and 95% specificity were obtained., Conclusion: The quantitative analysis of the optic nerve head and peripapillary RNFL with SD-OCT can provide useful data in differentiating ODE from ONHD.

An 80-year-old woman developed swollen optic nerves with hemorrhages associated with optic disc drusen. Hemorrhagic complications of optic disc drusen are discussed.

Purpose: Buried disc drusen are an important differential diagnosis for papilledema. Spectral domain optical coherence tomography (SD-OCT) affords clinicians with new non-invasive opportunities to probe below the surface of the optic nerve. Clinicians may use the knowledge of this appearance to rule out buried disc drusen in patients with irregular optic nerve borders or a bulging, hyperemic appearance., Methods: SD-OCTs were obtained in a patient with one surfacing disc druse, identifying the nature of the appearance of this disc druse and others in this and the contralateral eye when imaged with this technology. B-scan ultrasonography was used to confirm the presence of disc drusen. Additional scans in multiple patients with confirmed buried drusen were obtained for comparison., Results: Drusen appear as rounded hyporeflectant areas on SD-OCT, similar in appearance to blood vessels. They share the appearance of cysts but show a fine hyperreflective border anteriorly. These same discrete hyporeflective areas were found at various depths within optic nerve heads with confirmed buried disc drusen., Conclusions: The hyporeflective appearance may not be anticipated by clinicians, as B-scans show calcified drusen as hyperreflective on echo. It is hypothesized that the hyporeflectant appearance of drusen is due to a constancy in refractive index through the druse, as OCT detects changes in optical reflectivity. Thus, drusen are likely dense and homogenous. SD-OCT may be more useful in those patients with buried disc drusen which are not calcified as B-scan often contributes little in such cases.

Optic disk drusen are calcific deposits that form in the optic nerve head secondary to abnormalities in axonal metabolism and degeneration. The clinical course is variable, ranging from stable vision to acute or progressive visual loss. We evaluated a healthy 12-year-old boy with a history of asymptomatic bilateral disk drusen who presented with acute painless unilateral visual loss after hiking to an altitude of 11,000 feet. Findings were consistent with nonarteritic anterior ischemic optic neuropathy., (Copyright © 2012 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Idiopathic intracranial hypertension is a headache syndrome characterized by elevated intracranial pressure with normal cerebrospinal fluid content, normal cranial imaging, and elevated appearance of the optic disc. We report on a 6.5-year-old boy with complaints of headache and right esotropia causing diplopia. A lumbar puncture indicated an opening cerebrospinal fluid pressure of 28 cm H(2)O. The headache, diplopia, and esodeviation resolved after the lumbar puncture. However, at 2-week follow-up, the elevated appearance of the optic disc continued despite normal cerebrospinal fluid pressure. A second ophthalmologic consultation revealed optic disc drusen, as also demonstrated by ocular ultrasonography. To date, two such cases have been reported in the literature. To our knowledge, this patient is the youngest with coexisting optic disc drusen and idiopathic intracranial hypertension., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Purpose: To report a new sporadic case of membrane frizzled-related protein gene (MFRP)-related syndrome with a 30-month follow-up, and to review the literature for genotype-phenotype correlation in MFRP mutations., Methods: A complete ophthalmological evaluation was performed at presentation and 30 months later, including best-corrected visual acuity test, slit lamp examination, fundoscopy, kinetic perimetry, electroretinography, fundus imaging (color, red-free, and autofluorescence), and morphologic-biometric analysis of the eye structures with an optical biometer, anterior-segment optical coherence tomography, retinal optical coherence tomography, and a confocal scanning laser for optic nerve head study. Polymerase chain reaction amplification of DNA obtained from peripheral blood lymphocytes and nucleotide sequencing of the complete MFRP gene were performed. The literature on cases of posterior microphthalmos and retinitis pigmentosa associated with MFRP mutations was reviewed., Results: A 33-year-old female patient presented with posterior microphthalmos, retinitis pigmentosa with patches of retinal pigmented epithelium atrophy and scarce pigment mobilization, foveoschisis, and optic nerve drusen. After 30 months, progression of rod-cone retinal degeneration was detected. One obligate carrier showed a normal eye phenotype. A homozygote mutation in the MFRP gene (c.492delC), predicting a truncated protein (P166fsX190), was identified with genetic analysis. To our knowledge, 17 cases of MFRP-related syndrome have been reported in the literature, including the patient described herein. The phenotype of the syndrome, expressivity, and age of onset varied among and within the affected families. However, all patients sharing homozygous mutation c.492delC (alternatively named c.498delC) showed a complete phenotype (including foveoschisis and optic nerve head drusen), and similar fundus characteristics., Conclusions: A new sporadic case of MFRP-related syndrome is reported. Review of the literature showed variability in the phenotype, but initial elements of genotype-phenotype correlation have been identified in patients sharing the mutation of the present case.

Purpose: The purpose of this study is to identify the genetic defect in a Turkish family with autosomal recessive retinitis pigmentosa, nanophthalmos, and optic disc drusen., Methods: Ophthalmological examinations consisted of measuring the best-corrected visual acuity and the refractive error, electroretinography, optical coherence tomography, B-mode ultrasonography, and fundus photography. The involvement of the membrane frizzled-related protein (MFRP) gene in this family was studied with direct DNA sequencing of the coding exons of MFRP and with linkage analysis with microsatellite markers. After MFRP was excluded, genome-wide homozygosity mapping was performed with 250 K single nucleotide polymorphism (SNP) microarrays. Mutation analysis of the crumbs homolog 1 (CRB1) gene was performed with direct sequencing., Results: Ophthalmological evaluation of both affected individuals in the family revealed a decreased axial length (18-19 mm), retinal dystrophy, macular edema, and hyperopia of >+8.0 diopters. Sequencing of MFRP did not reveal any pathogenic changes, and microsatellite marker analysis showed that the chromosomal region did not segregate within the disease in this family. Genome-wide homozygosity mapping using single nucleotide polymorphism microarrays revealed a 28-Mb homozygous region encompassing the CRB1 gene, and direct sequencing disclosed a novel homozygous missense mutation (p.Gly833Asp) in CRB1., Conclusions: Previous studies associated mutations in the MFRP gene with the syndrome nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen. In this study, we demonstrated that a similar disease complex can be caused by mutations in the CRB1 gene.

Purpose: To evaluate the effect of optic nerve head drusen on retinal nerve fiber layer (RNFL) thickness in children, with the use of optical coherence tomography (OCT)., Material and Methods: 21 patients (mean age 13.9 years) with optic nerve head drusen were studied prospectively. For statistic comparison a group of 15 control subjects (mean age 14.1 years) participated. Ophthalmologic examination, automated visual field testing and optical coherence tomography were performed in each patient. For statistical analysis we used Shapiro-Wilk and U Mann-Whitney tests., Results: In the OCT measurements the nasal RNFL was significantly thinner as compared to the reference group. Neither statistically significant thinning of global RNFL between groups nor relation between subjects age and RNFL thickness was found., Conclusions: Optic nerve head drusen can lead to visual function defects, therefore early and correct diagnosis is mandatory. Optical coherence tomography is a usefull diagnostic tool used to determine the cause of disc elevation, which is especially important in childhood, when drusen can cause disc to appear papilledema-like. Overall OCT appears to be a non-invasive, sensitive and early-indicating method of RNFL thinning.

Adams-Oliver syndrome (AOS) (MIM 100300) was first described in 1945 as a condition of terminal transverse limb defects and aplasia cutis congenita. Since then, its clinical features have been found to be highly variable and include cardiac defects, abdominal wall defects, vascular malformations, brain abnormalities, and ocular anomalies. We report the case of a 3-year-old girl with AOS who was also found to have bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen. To the best of our knowledge, this is the first case of bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen to be reported in association with the AOS., (Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Choroidal neovascular membranes are a rare cause of decreased vision in children with optic nerve head drusen. We present a case of bilateral choroidal neovascular membranes associated with optic nerve head drusen in a 5-year-old boy who was successfully treated with a combination of focal laser photocoagulation and intravitreal bevacizumab., (Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Ischemia and hypoxia have been implicated in the pathophysiology of age related macular degeneration (AMD). This has mostly been based on studies on choroidal perfusion, which is not the only contributor to retinal hypoxia found in AMD eyes. Other features of AMD may also interfere with retinal oxygen metabolism including confluent drusen, serous or hemorrhagic retinal detachment, retinal edema and vitreoretinal adhesion. Each of these features contributes to retinal hypoxia: the drusen and retinal elevation by increasing the distance between the choriocapillaris and retina; vitreoretinal adhesion by reducing diffusion and convection of oxygen towards and vascular endothelial growth factor (VEGF) away from hypoxic retinal areas. Hypoxia-inducible-factor is known to exist in subretinal neovascularization and hypoxia is the main stimulus for the production of VEGF. Each feature may not by itself create enough hypoxia and VEGF accumulation to stimulate wet AMD, but they may combine to do so. Choroidal ischemia in AMD has been demonstrated by many researchers, using different technologies. Choroidal ischemia obviously decreases oxygen delivery to the outer retina. Confluent drusen, thickening of Bruch's membrane and any detachment of retina or retinal pigment epithelium, increases the distance between the choriocapillaris and the retina and thereby reduces the oxygen flux from the choroid to the outer retina according to Fick's law of diffusion. Retinal elevation and choroidal ischemia may combine forces to reduce choroidal oxygen delivery to the outer retina, produce retinal hypoxia. Hypoxia leads to production of VEGF leading to neovascularization and tissue edema. A vicious cycle may develop, where VEGF production increases effusion, retinal detachment and edema, further increasing hypoxia and VEGF production. Adhesion of the viscous posterior vitreous cortex to the retina maintains a barrier to diffusion and convection currents in the vitreous cavity according to the laws of Fick's, Stokes-Einstein and Hagen-Poiseuille. If the vitreous is detached from the surface of the retina, the low viscosity fluid transports oxygen and nutrients towards an ischemic area of the retina, and cytokines away from the retina, at a faster rate than through attached vitreous gel. Vitreoretinal adhesion can exacerbate retinal hypoxia and accumulation of cytokines, such as VEGF. Vitreoretinal traction can also cause hypoxia by retinal elevation. Conceivably, the basic features of AMD, drusen, choroidal ischemia, and vitreoretinal adhesion are independently determined by genetics and environment and may combine in variable proportions. If the resulting hypoxia and consequent VEGF accumulation crosses a threshold, this will trigger effusion and neovascularization., (2010 Elsevier Ltd. All rights reserved.)