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Background/aimsTo determine the association of age, presence of optic nerve head drusen (ONHD) and number of previous intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections with inner retinal layer thicknesses in patients with pseudoxanthoma elasticum (PXE).MethodsIn this retrospective case–control study, longitudinal spectral-domain optical coherence tomography imaging data from patients with PXE were compared with controls. A custom deep-learning-based segmentation algorithm was trained and validated to quantify the retinal nerve fibre layer (RNFL) and ganglion cell layer (GCL). The association of age, number of anti-VEGF injections and ONHD with the RNFL and GCL thickness in the outer ETDRS subfields as dependent variables was investigated using mixed model regression.ResultsFourty-eight eyes of 30 patients with PXE were compared with 100 healthy eyes. The mean age was 52.5±12.9 years (range 21.3–68.2) for patients and 54.2±18.7 years (range 18.0–84.5) for controls. In patients, ONHD were visible in 15 eyes from 13 patients and 31 eyes had received anti-VEGF injections. In the multivariable analysis, age (−0.10 µm/year, p<0.001), the diagnosis of PXE (−2.03 µm, p=0.005) and an interaction term between age and the presence of ONHD (−0.20 µm/year, p=0.001) were significantly associated with the GCL thickness. Including the number of intravitreal injections did not improve the model fit. The RNFL thickness was not significantly associated with any of these parameters.ConclusionsThis study demonstrates a significant association of ageing and ONHD with GCL thinning in patients with PXE, but not with the number of anti-VEGF injections. Given the severity of inner retinal degeneration in PXE, a clinical trial investigating neuroprotective therapy warrants consideration.

BackgroundPapilledema is the optic disc swelling caused by increased intracranial pressure (ICP) that can damage the optic nerve and cause subsequent vision loss. Pseudopapilledema refers to optic disc elevation without peripapillary fluid that can arise from several optic disc disorders, with optic disc drusen (ODD) being the most frequent cause. Occasionally, pseudopapilledema patients are mistakenly diagnosed as papilledema, leading to the possibility of unneeded procedures. We aim to thoroughly examine the most current evidence on papilledema and pseudopapilledema causes and several methods for distinguishing between both conditions.MethodsAn extensive literature search was conducted on electronic databases including PubMed and google scholar using keywords that were relevant to the assessed pathologies. Data were collected and then summarized in comprehensive form.ResultsVarious techniques are employed to distinguish between papilledema and pseudopapilledema. These techniques include Fundus fluorescein angiography, optical coherence tomography, ultrasonography, and magnetic resonance imaging. Lumbar puncture and other invasive procedures may be needed if results are suspicious.ConclusionPapilledema is a sight-threatening condition that may lead to visual affection. Many disc conditions may mimic papilledema. Accordingly, differentiation between papilledema and pseudopailledema is crucial and can be conducted through many modalities.

To investigate the prevalence and risk factors for visual field defect in patients with optic disc drusen (ODD). We assessed the visual field status of patients with ODD whose diagnosis were confirmed by spectral-domain optical coherence tomography (SD-OCT). Visual field defects were classified as normal, enlarged blind spot, or other defects. ODD were classified into either type 1 (without hyperreflective border and heterogenic internal reflectance) or type 2 (with hyperreflective border and lower internal reflectance). The prevalence and risk factors for each visual field defect was analyzed using logistic regression analysis and classification and regression tree (CART) modeling. Of the 40 eyes with ODD, 33 (83%) eyes were categorized as type 1 and 7 (17%) eyes were categorized as type 2 ODD. Regarding the visual field defects, 19 (48%) eyes showed normal visual field, 11 (28%) eyes showed enlarged blind spot, and 9 (24%) eyes showed other defects. The latter was more frequent in type 2 ODD (P = 0.001). Logistic regression analysis revealed that the factor associated with other defects was the thinning of the average retinal nerve fiber layer (RNFL) (per 10 μm decrease, OR = 3.436, P = 0.004), and the factor associated with enlarged blind spot was the height of ODD (per 100 μm increase, OR = 3.956, P = 0.023). CART modeling revealed that the average RNFL thickness lesser than 85.5 μm, and then the ODD height larger than 348 μm were the best split-up factors for predicting the type of visual field defects. In this study, one-quarter of ODD patients showed abnormal visual field defect other than enlarged blind spot. These other visual field defects appeared to be associated with the axonal loss in the eyes with type 2 ODD.

A man in his 60s with dry eye symptoms was noted to have angioid streaks under the peripapillary retina. Congenital dyserythropoietic anaemia was the major health issue throughout his life, requiring venesection for iron overload, but no transfusions for many years. Close inspection of the eyes with optical coherence tomography also detected small subclinical optic disc drusen, which have not been reported in association with congenital dyserythropoietic anaemia. Together, optic disc drusen and angioid streaks represent an ectopic calcification phenotype in the eye and can be seen in the more common inherited condition of pseudoxanthoma elasticum or other inherited haemolytic anaemias such as sickle cell or thalassaemia. These associations highlight the role of pyrophosphate as a physiological inhibitor of calcification, and deficiencies of serum pyrophosphate lead to excessive and ectopic calcification. This raises intriguing hypotheses for the treatment of optic disc drusen, angioid streaks and other conditions of ectopic calcification.

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.

A young male child in his early teens presented to our retina clinic with painless progressive diminution of vision in his left eye (LE) from the last 1 month. He was diagnosed with LE optic neuritis elsewhere and treated with high-dose corticosteroids. The patient was referred to our centre in view of his poor response to treatment. The best-corrected visual acuity (BCVA) in the right eye was 6/6 and LE was 6/60. Anterior segment examination in both eyes was within normal limits. Fundus examination in the LE revealed lumpy and hyperaemic disc associated with peripapillary subretinal exudation.

Background Sudden visual loss and optic disc edema caused by optic neuritis (ON) is usually followed by significant visual recovery. However, little or no recovery occurs when the loss is caused by atypical ON, especially in patients with neuromyelitis optica (NMO). Optic disc drusen (ODD) is a cause of pseudo optic disc edema and may be a predisposing factor for non-arteritic anterior ischemic optic neuropathy (NAION), thereby mimicking atypical ON. In such cases, if globular concretions are seen protruding from the disc substance, ODD may be suspected. The purpose of this paper is to describe two patients with acute visual loss followed by optic disc atrophy initially labeled as atypical ON. Though not suspected on clinical examination, optical coherence tomography (OCT) revealed deeply buried ODD as a predisposing factor for NAION. Case presentations Case 1: A 48-year-old woman had bilateral sequential visual loss associated with optic disc edema. Despite treatment, vision did not improve and severe disc pallor ensued. Atypical ON was suspected. Eventually, she was started on immunosuppressant therapy based on a tentative diagnosis of NMO-spectrum disorder. On examination 5 years later, only severe optic disc pallor was observed, but OCT radial B-scans showed ovoid hyporeflective areas in the retrolaminar region of both eyes, compatible with ODD; this led to a diagnosis of NAION and deeply buried ODD. Case 2. A 35-year-old woman with suspicion of ON in the left eye and a history of previous atypical ON in the right eye was referred for neuro-ophthalmic examination which revealed diffuse optic disc pallor and a dense arcuate visual field defect in the right eye. OCT B-scans passing through the disc showed large ovoid areas of reduced reflectivity in the retrolaminar region of the optic disc in the right eye. These findings helped confirm the diagnosis of NAION in one eye, with deeply buried ODD as predisposing factor. Conclusions Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON. Awareness of such occurrence is important to avoid unnecessary testing and minimize the risk of mismanagement.

Optic disc drusen are acellular calcific deposits occurring in small, crowded optic discs with abnormal vasculature. Evidence suggests axoplasmic transport alteration and axonal degeneration are involved in disc drusen formation. In affected patients, the number and size of disc drusen are highly variable, and the drusen may be visible near the disc surface or buried within the disc, causing them to appear as pseudopapilledema. B-scan echography is the most sensitive method for detecting disc drusen. Most patients with disc drusen are asymptomatic, but progressive visual field loss and vascular complications, including anterior ischemic optic neuropathy and choroidal neovascularization, may occur. Optic disc drusen have no established effective treatment. Diagnosing disc drusen correctly is important to avoid unnecessary work-up and to avoid overlooking potential serious conditions such as true papilledema. Disc drusen patients with more-than-expected visual field defects or progressive visual loss should have work-up to exclude other causes.

A 44-year-old woman presented with decreased vision in both eyes. The retina in both eyes had drusen distributed along vascular arcades, central macula and in peripapillary region. Macula had pigmented scarring and exudation. Fundus autofluorescence showed drusen. Optical coherence tomography showed drusen, subretinal and intraretinal fluid. Fundus fluorescein and indocyanine green angiography showed drusen, retinal pigment epithelial atrophy and vascular network. Younger age at presentation, bilateral symmetry, typical distribution of drusen along the arcades in a radiating pattern, peripapillary involvement, scarring and atrophy at macula were suggestive of doyne honeycomb retinal dystrophy. The reduced vision was due to macular atrophy and an active choroidal neovascular membrane. The patient was treated with antivascular endothelial growth factor injections for choroidal neovascular membrane. Our case highlights the importance of pattern recognition and multimodal imaging for diagnosing the type of macular dystrophy as doyne honeycomb retinal dystrophy, while simultaneously managing choroidal neovascular membrane.