8†Unexpected retinopathy in a patient presenting with bilateral optic disc swelling.

A 12-year-old boy presented with 5 day history of blurry vision, 'wobbly eyes', tinnitus and difficulty seeing at night. Local ophthalmology noted bilateral optic disc swelling and referred him urgently for neurological investigations.Clinical Findings: At presentation VA was RE 0.00 and LE 0.2 with normal Ishihara colour vision. His extraocular movements were full without manifest strabismus. Fundoscopy showed bilateral optic disc swelling. Electrophysiology unexpectedly revealed a functionally cone isolated retina with markedly abnormal rod function. Pattern VEPs indicated bilateral macular pathway dysfunction affecting left eye more than right eye. Wide field imaging showed bilateral diffusely scattered yellow-white flecks in the midperiphery of each eye. His kinetic visual fields were moderately restricted bilaterally. MRI showed a Chiari 1 malformation with cerebellar tonsil herniation, but LP opening pressure was normal.Differential diagnosis included RDH5 retinopathy or vitamin A deficiency. On questioning he reported a diet restricted to only meat and biscuits. His vitamin A levels were subnormal at 0.14 umol/L (reference range 0.9-2.5umol/l) and he was started on high-dose Vitamin A supplements.Four months after supplementation retinal appearances had normalised, the rod ERGs recovered, nyctalopia and visual field restriction resolved. PVEPs had improved but an element of LE macular pathway dysfunction remained. Optic disc swelling settled leaving mild temporal pallor, particularly of the LE with some RNFL loss.It is important to recognise nutritional Vitamin A deficiency in children as prompt recognition and treatment can improve symptoms, reverse retinal pathology which we have demonstrated with electrophysiological findings.

Incidence of giant cell arteritis mimicking non-arteritic anterior optic neuropathy.

PURPOSE: Giant cell arteritis (GCA) involving ophthalmic circulation often manifests as anterior ischemic optic neuropathy (AAION), presenting with severe vision loss and pallid optic disc edema. Non-arteritic anterior ischemic optic neuropathy (NAION) classically presents with segmental optic disc edema and corresponding altitudinal visual field defect (VFD) with small cup-to-disc ratio in the fellow eye. Differentiating these two entities is critical as GCA requires immediate treatment to prevent vision loss in the fellow eye. This study investigated how often GCA mimics NAION at presentation. METHODS: Retrospective chart review of patients with temporal artery biopsy (TAB) positive GCA with ocular manifestations seen at a tertiary neuro-ophthalmology practice between 2015 and 2020. Patients presenting with segmental non-pallid optic disc swelling and corresponding altitudinal VFD mimicking NAION were identified. RESULTS: The clinical presentation of 7.1% (3/42) of patients with TAB-positive GCA mimicked NAION. Two of three patients had cup-to-disc ratio of <0.3 in the fellow eye. Two patients were women, mean age was 67.3 ± 6.5 years, and mean presenting visual acuity was 0.45 ± 0.48 LogMAR. Two patients had a normal temporal artery ultrasound. Two of three patients had at least one systemic symptom of GCA at presentation and all had elevation of one or both inflammatory markers. CONCLUSIONS: There should be high index of suspicion for GCA, even in patients highly suspected to have NAION. Inflammatory markers must be checked in every patient with presumed NAION and TAB performed if one or both are elevated to avoid missing GCA.

Clinical characteristics depending on magnetic resonance imaging patterns in idiopathic isolated optic neuritis.

To investigate differences in clinical features based on magnetic resonance imaging (MRI) in idiopathic isolated optic neuritis patients. We retrospectively analyzed 68 eyes of 59 patients diagnosed with optic neuritis and showed inflammatory findings indicative of optic neuritis on MRI. We investigated clinical features, such as the presence of accompanying pain, visual acuity, and optic disc swelling. Optic disc swelling was classified as normal, mild, or severe. The MRI results were divided into intraorbital, intracanalicular, and whole optic nerve according to the lesion, and these were compared and analyzed with clinical features. The study included 29 men and 30 women, with a mean age of 42.6 ± 16.6 years. Among 59 patients, 48 (81.4%) complained of pain. Optic disc swelling was not observed in 48.5% of patients (33 eyes). Inflammatory changes were the most common in the intraorbital region (33 eyes), intracanalicular region (20 eyes), and the entire optic nerve (15 eyes). There was no statistical difference in the pain pattern according to the location of the lesion (p = .677), but when inflammation was present in the entire optic nerve, optic disc swelling was severe (p = .023). The initial and final visual acuity did not significantly correlate with the MRI pattern, presence of pain, or optic disc swelling (p = .156, p = .714, and p = .436). The MRI contrast enhancement pattern was associated with optic disc swelling but was not associated with pain or initial visual acuity. It should be noted that it is insufficient to judge the clinical features of optic neuritis based on MRI findings.

An Atypical Case of Enterovirus Meningitis Presenting with Unilateral Optic Disc Swelling and Minimal Optical Symptoms.

PURPOSE: To report a case of unilateral disc swelling as the only presentation of enterovirus meningitis in a 43-year-old male who presented with reduction in visual quality. METHODS: Vision was 20/20 unaided in both eyes and the only ocular finding was left optic disc edema accompanied by left relative afferent pupillary defect. Visual field examination revealed a generalized reduction in sensitivity, a paracentral scotoma and a superior and inferior arcuate defect. Apart from a marginally elevated white blood cell count, the evaluation for common diseases associated with unilateral disc swelling was negative. A comprehensive neurology and rheumatology assessment,the orbital, brain and cervical spine Magnetic Resonance Imaging (MRI), the chest and abdomen Computed Tomography (CT) and chest radiograph had no findings. However, the cerebrosipinal fluid (CSF) examination indicated the presence of enterovirus RNA. RESULTS: A diagnosis of enterovirus meningitis was established.Patient's general health was not affected and symptoms gradually settled, with no specific anti-enteroviral treatment. CONCLUSION: Only the CSF analysis provided interesting evidence of the site of the visual dysfunction.

Peripapillary hyperreflective ovoid mass-like structures: Multimodal imaging-A review.

Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are a laterally bulging herniation of distended axons into the peripapillary region above the level of Bruch's membrane opening. Increased use of enhanced depth imaging-optical coherence tomography (EDI-OCT) in our evaluation of the optic nerve head (ONH) and greater recognition of the vast range of optic nerve pathologies with which PHOMS is associated provides convincing evidence that PHOMS is not just buried optic disc drusen (ODD) as previously described. The frequent coexistence of PHOMS with ODD, papilloedema, anterior ischaemic optic neuropathy, tilted optic disc syndrome, inflammatory demyelinating disorders and other diseases associated with axoplasmic stasis provides insight into its underlying pathophysiology. The present review will discuss the role of key imaging modalities in the differential diagnosis of PHOMS, explore the current literature on the relationship between PHOMS and common neuro-ophthalmic conditions, and highlight the gaps in our knowledge, with respect to disease classification and prognosis, to pave the way for future directions of research.

The yield of ophthalmoscopy as a screening tool for intracranial pathology in pediatric headache.

Headache is a common complaint in children who present at the pediatric emergency department (PED). Serious conditions such as intracranial tumors and idiopathic intracranial hypertension (IIH) should be rapidly ruled out. Ophthalmoscopy for the presence of papilledema has long been considered critical to the assessment of headaches in children; however, the yield of this procedure is poorly validated. This retrospective study implemented a computerized search of the medical records of a single tertiary center to identify all children aged 2-18 years who presented at the PED complaining of headache between 2007 and 2017. The clinical, demographic, radiographic, and laboratory data were analyzed. Of the 948 children aged 2-18 years who presented at the PED complaining of headache, 536 had an ophthalmoscopy examination carried out by an ophthalmologist. Forty-one had papilledema, of whom 7 had an intracranial tumor, 15 had IIH, and 9 had optic nerve head drusen. Of the 495 children without papilledema, 3 had intracranial tumor, and 11 had IIH. The sensitivity and specificity of papilledema for the diagnosis of intracranial tumor were 70% and 93.5%, respectively, with an NPV and PPV of 99.4% and 17.1%, respectively. The sensitivity and specificity of papilledema for the diagnosis of intracranial pathology in general were 61.1% and 96.2%, respectively, with an NPV and PPV of 97.2% and 53.7%, respectively.  Conclusion: Assessment by ophthalmoscopy for papilledema in children presenting to the PED with headache had high sensitivity and high specificity, thus reinforcing the importance of ophthalmoscopy as a screening tool in these children. What is Known: • Headache is a common complaint in children. Serious intracranial pathologies need to be rapidly excluded. • Ophthalmoscopy for the presence of papilledema is commonly used as a screening tool for intracranial pathology, but this procedure is poorly validated. What is New: • Ophthalmoscopy for the assessment of papilledema in children who present with headache to the pediatric emergency department is shown to exhibit sensitivity and specificity for the diagnosis of intracranial pathology.

[Papilledema as a sign of intracranial hypertension]. / Zastoinyi disk zritel'nogo nerva kak priznak vnutricherepnoi gipertenzii.

Papilledema (choked disk) is a sign of intracranial hypertension (ICH) - condition that presents danger not only for patient's vision, but also for their life. Despite the fact that ICH is usually a neurosurgical pathology, sometimes an ophthalmologist is the first doctor such patients visit, most often in a primary healthcare clinic. At the same time, as practice shows, not all ophthalmologists are well aware about in this pathology; difficulties occur in differential diagnosis of papilledema against similar changes of the optic nerve head seen during ophthalmoscopic examination. This article reviews scientific literature on ICH, including benign ICH, diagnosis and differential diagnosis of papilledema. The authors also share their decades-long experience of working in a neurosurgical facility.

Subarachnoid space of the optic nerve sheath and intracranial hypertension: a macroscopic, light and electron microscopic study.

PURPOSE: The optic nerve (ON) is an extension of the central nervous system via the optic canal to the orbital cavity. It is accompanied by meninges whose arachnoid layer is in continuity with that of the chiasmatic cistern. This arachnoid layer is extended along the ON, delimiting a subarachnoid space (SAS) around the ON. Not all forms of chronic intracranial hypertension (ICH) present papilledema. The latter is sometimes asymmetric, unilateral, or absent. The radiological signs of optic nerve sheath (ONS) dilation, in magnetic resonance imaging, are inconsistent or difficult to interpret. The objective of this study was to analyze the anatomy, the constitution, and the variability of the SAS around the ON in its intraorbital segment to improve the understanding of the pathophysiologic mechanism of asymmetric or unilateral or absent papilledema in certain ICH. METHODS: The study was carried out on nine cadaveric specimens. In four embalmed specimens, macroscopic analysis of the SAS of the ONS were performed, with description about density of the arachnoid trabecular meshwork in three distinct areas (bulbar segment, mid-orbital segment and the precanal segment). In three other embalmed specimens, after staining of SAS by methylene blue (MB), we performed macroscopic analysis of MB progression in the SAS of the ONS. Then, in two non-embalmed specimens, light and electron microscopy (EM) analysis were also done. RESULTS: On the macroscopic level, after staining of SAS, we found in all cases that MB progressed on 16 mm average throughout the SAS of the ONS without reaching the papilla. In four embalmed specimens, in the SAS of the ONS, the density of the arachnoid trabecular meshwork showed inter-individual variability (100%) and intra-individual variability with bilateral variability (50%) and/or variability within the same ONS (88%). On the microscopic level, the arachnoid trabeculae of the ONS are composed of dense connective tissue. The EM perfectly depicted its composition which is mainly of collagen fibers of parallel orientation. CONCLUSION: The variability of the SAS around the ONS probably impacts the symmetrical or asymmetrical nature of papilledema in ICH.

Transorbital sonography: A non-invasive bedside screening tool for detection of pseudotumor cerebri syndrome.

BACKGROUND: Our objective was to assess optic nerve sheath diameter (a marker of elevated intracranial pressure) and optic disc elevation (a marker of papilledema) in pseudotumor cerebri syndrome using transorbital sonography. METHODS: The study was a prospective case-control study. We included patients with new-onset pseudotumor cerebri syndrome and matched healthy controls. All had fundoscopy, lumbar puncture with opening pressure and transorbital sonography. Sonography was assessed by a blinded observer. RESULTS: We evaluated 45 patients and included 23 cases. We recruited 35 controls. Optic nerve sheath diameter was larger in pseudotumor cerebri syndrome compared to controls (6.3 ± 0.9 mm versus 5.0 ± 0.5 mm, p < 0.001) and so was optic disc elevation (0.9 ± 0.4 mm versus 0.4 ± 0.1 mm, p < 0.001). The optimal cut-off point for optic nerve sheath diameter was 6 mm with a sensitivity of 74% for prediction of pseudotumor cerebri syndrome and 68% for prediction of elevated opening pressure. Specificity was 94%. The optimal cut-off point for optic disc elevation was 0.6 mm. Sensitivity was 100% and specificity 83% for prediction of pseudotumor cerebri syndrome. CONCLUSION: Optic disc elevation and optic nerve sheath diameter are increased in new-onset pseudotumor cerebri syndrome. Optic disc elevation achieved high specificity and excellent sensitivity for diagnosis of pseudotumor cerebri syndrome. Transorbital sonography (TOS) is a potential, non-invasive screening tool for pseudotumor cerebri syndrome in headache clinics.

Describing the Clinical and Laboratory Features and HLA-B Pattern of Adult-Onset Idiopathic Autoimmune Uveitis at a Tertiary Hospital in South India: A Cross-Sectional Study.

INTRODUCTION: There is a scarcity of information available on clinical and laboratory features of adult-onset idiopathic autoimmune uveitis. Therefore, we conducted a single centre descriptive cross-sectional study. Patients and Methods. A chart review of all patients with idiopathic autoimmune uveitis with onset after 18 years of age who were referred to the rheumatology department between January 2017 and December 2018 was performed. Their clinical features, demographic features, and HLA-B genotypes were documented and described. RESULTS: Out of 210 patients referred to rheumatology, 66 were found to have uveitis, and 16 of these had an adult-onset idiopathic autoimmune uveitis. Apart from a slight female preponderance (62.5%), our patients were characterized by a high proportion of panuveitis (4 out of 16, i.e., 25%). There was an increased frequency of occurrence of synechiae (5 out of 16, i.e., 31.3%), retinal vasculitis (4 out of 16, i.e., 25%), optic disc edema (3 out of 16, i.e., 18.8%), and cystoid macular edema (seen in 2 patients, i.e., 12.5%). These features correlated with the anatomical subtypes. Retinal vasculitis and optic disc edema present in three fourth of all panuveitis cases were the most prominent features. The odds of finding HLA-B∗35 in retinal vasculitis were 33 times higher than odds of finding it in idiopathic autoimmune uveitis patients not having retinal vasculitis (OR 33; 95% CI 1.6-698). CONCLUSION: Idiopathic autoimmune uveitis in our patients is characterized by a high frequency of panuveitis and retinal vasculitis, and complications with a probable association between HLA-B∗35 and retinal vasculitis.

Optic disc edema and chorioretinal folds develop during strict 6° head-down tilt bed rest with or without artificial gravity.

Spaceflight associated neuro-ocular syndrome (SANS) is hypothesized to develop as a consequence of the chronic headward fluid shift that occurs in sustained weightlessness. We exposed healthy subjects (n = 24) to strict 6° head-down tilt bed rest (HDTBR), an analog of weightlessness that generates a sustained headward fluid shift, and we monitored for ocular changes similar to findings that develop in SANS. Two-thirds of the subjects received a daily 30-min exposure to artificial gravity (AG, 1 g at center of mass, ~0.3 g at eye level) during HDTBR by either continuous (cAG, n = 8) or intermittent (iAG, n = 8) short-arm centrifugation to investigate whether this intervention would attenuate headward fluid shift-induced ocular changes. Optical coherence tomography images were acquired to quantify changes in peripapillary total retinal thickness (TRT), retinal nerve fiber layer thickness, and choroidal thickness, and to detect chorioretinal folds. Intraocular pressure (IOP), optical biometry, and standard automated perimetry data were collected. TRT increased by 35.9 µm (95% CI, 19.9-51.9 µm, p < 0.0001), 36.5 µm (95% CI, 4.7-68.2 µm, p = 0.01), and 27.6 µm (95% CI, 8.8-46.3 µm, p = 0.0005) at HDTBR day 58 in the control, cAG, and iAG groups, respectively. Chorioretinal folds developed in six subjects across the groups, despite small increases in IOP. Visual function outcomes did not change. These findings validate strict HDTBR without elevated ambient CO2 as a model for investigating SANS and suggest that a fluid shift reversal of longer duration and/or greater magnitude at the eye may be required to prevent or mitigate SANS.

Excess adiponectin in eyes with progressive ocular vascular diseases.

Anti-vascular endothelial growth factor (VEGF) therapies are now the first-line treatment for many ocular diseases, but some patients are non-responders to these therapies. The purpose of this study was to determine whether the level of adiponectin increased the pathogenesis of retinal edema and neovascularization in the retina of progressive ocular vascular diseases. We examined the role played by adiponectin in two types of cells and animal models which are retinal vein occlusion (RVO) and oxygen-induced retinopathy (OIR) mice. Our results showed that an injection of anti-adiponectin antibody ameliorated the retinal edema and ischemia through the depression of the expression level of VEGF-related factors and tight junction-related proteins in the retina of RVO mice. The intravitreal injection of anti-adiponectin antibody also decreased the degree of retinal neovascularization in an OIR mice. In addition, exposure of human retinal microvascular endothelial cells and human brain microvascular pericytes in culture to adiponectin increased both the vascular permeability and neovascularization through the increase of inflammatory factor and the dropout of the pericytes. These findings indicate that adiponectin plays a critical role in retinal edema and neovascularization, and adiponectin is a potential therapeutic target for the treatment of diabetic macular edema, proliferative diabetic retinopathy, and RVO.

QUANTITATIVE TOPOGRAPHIC CURVATURE MAPS OF THE POSTERIOR EYE UTILIZING OPTICAL COHERENCE TOMOGRAPHY.

PURPOSE: Deformations of the retina such as staphylomas in myopia or scleral flattening in high intracranial pressure can be challenging to quantify with en face imaging. We describe an optical coherence tomography-based method for the generation of quantitative posterior eye topography maps in normal and pathologic eyes. METHODS: Using "whole eye" optical coherence tomography, we corrected for subjects' optical distortions to generate spatially accurate posterior eye optical coherence tomography volumes and created local curvature (KM, mm-1) topography maps for each consented subject. We imaged nine subjects, three normal, two with myopic degeneration, and four with papilledema including one that was imaged longitudinally. RESULTS: Normal subjects mean temporal KM was 0.0923 mm-1, nasal KM was 0.0927 mm-1, and KM local variability was 0.0162 mm-1. In myopic degeneration, subjects KM local variability was higher at 0.0836 mm-1. In papilledema subjects nasal KM was flatter compared with temporal KM (0.0709 vs. 0.0885 mm-1). Mean intrasession KM repeatability for all subjects was 0.0036 mm-1. CONCLUSION: We have developed an optical coherence tomography based method for quantitative posterior eye topography that offers the ability to analyze local curvature with micron scale resolution and offers the potential to help clinicians and researchers characterize subtle, local retinal deformations earlier in patients and follow their development over time.

Non-invasive detection of corneal sub-basal nerve plexus changes in multiple myeloma patients by confocal laser scanning microscopy.

PURPOSE: Confocal laser scanning microscopy (CLSM) is a non-invasive technique for cellular in vivo imaging of the human cornea. CLSM screening was evaluated for early detection of corneal nerve morphology changes and neuropathogenic events in different stage multiple myeloma (MM) patients. As MM patients show disease as well as therapy-related neuropathological symptoms, CLSM potentially provides a tool for non-invasive early detection of neuropathogenic events. CLSM findings were compared with the severity of peripheral neuropathic (PNP) symptoms. METHODS: The study enrolled 25 MM patients in which bilateral ophthalmologic examination was performed including unilateral CLSM. Further peripheral nerve function was clinically evaluated using the conventional neuropathy symptom and neuropathy deficit scores (NDSs). RESULTS: In 18/25 MM patients, CLSM detected atypical morphological appearance of bulb-like enlarged nerve endings in the corneal sub-basal nerve plexus. These neuromas were only found in patients showing moderate to severe PNP, in patients with mild or lacking PNP neuromas were absent. CONCLUSIONS: CLSM provides a novel non-invasive diagnostic tool for identification of neuromas in cancer patients affected by therapy or disease-related neuropathologies, perspectival allowing early neuronal degenerative process detection and monitoring.

Intracranial hypertension and cortical thickness in syndromic craniosynostosis.

AIM: To evaluate the impact of risk factors for intracranial hypertension (ICH) on cerebral cortex thickness in syndromic craniosynostosis. METHOD: ICH risk factors including papilloedema, hydrocephalus, obstructive sleep apnea (OSA), cerebellar tonsillar position, occipitofrontal circumference (OFC) curve deflection, age, and sex were collected from the records of patients with syndromic craniosynostosis (Apert, Crouzon, Pfeiffer, Muenke, Saethre-Chotzen syndromes) and imaging. Magnetic resonance images were analysed and exported for statistical analysis. A linear mixed model was developed to determine correlations with cerebral cortex thickness changes. RESULTS: In total, 171 scans from 107 patients (83 males, 88 females [including repeated scans], mean age 8y 10mo, range 1y 1mo-34y, SD 5y 9mo) were evaluated. Mean cortical thickness in this cohort was 2.78mm (SD 0.17). Previous findings of papilloedema (p=0.036) and of hydrocephalus (p=0.007) were independently associated with cortical thinning. Cortical thickness did not vary significantly by sex (p=0.534), syndrome (p=0.896), OSA (p=0.464), OFC (p=0.375), or tonsillar position (p=0.682). INTERPRETATION: Detection of papilloedema or hydrocephalus in syndromic craniosynostosis is associated with significant changes in cortical thickness, supporting the need for preventative rather than reactive treatment strategies. WHAT THIS PAPER ADDS: Papilloedema is associated with thinning of the cerebral cortex in syndromic craniosynostosis, independently of hydrocephalus.

Hipertensión intracraneal y grosor cortical en craneosinostosis sindrómica OBJETIVO: Evaluar el impacto de los factores de riesgo de hipertensión intracraneal (HIC) en el grosor de la corteza cerebral en la craneosinostosis sindrómica. MÉTODO: La neuroimagen, y, los factores de riesgo para HIC que incluyeron papiledema, hidrocefalia, apnea obstructiva del sueño (SAOS), posición de la tonsila cerebelosa, edad de desviación de la curva de circunferencia occipitofrontal (CFO) y el sexo, se recogieron de los registros de pacientes con craneosinostosis sindrómica (Apert, Crouzon, Pfeiffer, Muenke, Saethre-Chotzensis). Las imágenes de resonancia magnética fueron analizadas y exportadas para análisis estadístico. Se desarrolló un modelo mixto lineal para determinar las correlaciones con los cambios en el espesor de la corteza cerebral. RESULTADOS: En total se evaluaron 171 exploraciones de 107 pacientes (83 varones, 88 mujeres [incluyendo escaneos repetidos], edad media 8 años 10 meses, rango 1 año 1 mes - 34 años, DE 5 años 9 meses). El espesor medio cortical en esta cohorte fue de 2,78 mm (DS 0,17). Los hallazgos anteriores de papiledema (p=0,036) y de hidrocefalia (p=0,007) se asociaron de forma independiente con el adelgazamiento cortical. El grosor cortical no varió significativamente por sexo (p=0,534), síndrome (p=0,896), SAOS (p=0,464), CFO (p=0,375), o posición tonsilar (p=0,682). INTERPRETACIÓN: La detección de papiledema o hidrocefalia en la craneosinostosis sindrómica, se asocia con cambios significativos en el grosor cortical. Esto apoya la necesidad de estrategias de tratamiento preventivo en lugar de tratamientos reactivos.

Hipertensão intracrianiana e espessura cortical na craniossinostose sindrômica OBJETIVO: Avaliar o impacto de fatores de risco para hipertensão intracraniana (HIC) na espessura cortical em craniossinostose sindrômica. MÉTODO: Fatores de risco para HIC incluindo papiloedema, hidrocefalia, apnéia obstrutiva do sono (AOS), posição das tonsilas do cerebelo, idade de deflexão da curva da circunferência occipitofrontal (COF), e sexo foram coletados dos registros de pacientes com craniossinostose sindrômica (síndromes de Apert, Crouzon, Pfeiffer, Muenke, Saethre-Chotzen) e imagens. As imagens de ressonância magnética foram analisadas e exportadas para análise estatística. Um modelo linear misto foi desenvolvido para determinar correlações com mudanças na espessura do córtex cerebral. RESULTADOS: No total, 171 imagens de 107 pacientes (83 do sexo masculino, 88 do sexo feminino [incluindo varreduras repetidas], média de idade 8a 10m, variação 1a 1m-34a, DP 5a 9m) foram avaliados. A espessura cortical média nesta coorte foi 2,78mm (DP 0,17). Achados prévios de papiloedema (p=0,036) e de hidrocefalia (p=0,007) foram independentemente associados com a redução cortical. A espessura cortical não variou significativamente com o sexo (p=0,534), síndrome (p=0,896), AOS (p=0,464), COF (p=0,375), ou posição tonsilar (p=0,682). INTERPRETAÇÃO: A detecção do papiloedema ou hidrocefalia na craniossinostose sindrômica se associa com mudanças significativas na espessura cortical, sustentando a necessidade de estratégias de tratamento preventivas e não reativas.

Correlation of changes in serum level of VEGF and peripapillary retinal thickness in patients with POEMS syndrome.

AIM: To determine whether changes in the serum levels of vascular endothelial growth factor (VEGF) after thalidomide therapy will affect the peripapillary retinal thickness (pRT) associated with optic disc oedema (ODE) in patients with polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome. METHODS: This was a retrospective, observational case series of 23 right eyes of 23 treatment-naïve patients with POEMS syndrome and ODE whose intracranial pressure was within the normal range. The pRT was determined by spectral-domain optical coherence tomography, and the serum level of VEGF was determined by ELISA at baseline and 6 months after the thalidomide therapy. We determined whether a change in the pRT from baseline was significantly correlated with the serum level of VEGF from that at 6 months after the thalidomide treatment. RESULTS: Six months after treatment, the mean serum level of VEGF was significantly reduced from 7153±4214 pg/mL to 1067±769 pg/mL (p<0.001), and the pRT was significantly decreased from 471.2±203 µm to 318.1±53.9 µm (p<0.001). The change in the pRT from baseline was significantly and linearly correlated with the change in the serum level of VEGF from that at 6 months after treatment (r=0.67, p=0.00039). CONCLUSIONS: The close relationship between the pRT and the serum level of VEGF may offer clues on the pathogenesis of POEMS syndrome and potentially add a new candidate cause for the pathogenesis of ODE.

Diagnosis of Syphilitic Bilateral Papillitis Mimicking Papilloedema.

Syphilis produces myriad nonspecific signs and symptoms. For example, optic disk swelling might be seen in patients with syphilis as a result of cranial hypertension (papilloedema), inflammatory optic neuritis with papillitis, or optic perineuritis. We report a case involving differential diagnosis of syphilitic bilateral papillitis mimicking papilloedema.

Endothelial lesion and complement activation in patients with Scleroderma Renal Crisis / Lesão endotelial e ativação do complemento em pacientes com crise renal esclerodérmica

Abstract In kidney biopsies reviews, scleroderma renal crisis (SRC) is characterized by vascular endothelial injuries, C4d deposits on peritubular vessels, and acute and chronic injuries coexisting on the same biopsy. The clinical signs of thrombotic microangiopathy (TMA) are described in systemic sclerosis (SSc), nevertheless, it has not been related to acute injuries described on kidney biopsies. We report a case of SRC in a patient with scleroderma-dermatomyositis overlap syndrome, which also showed clinical and histopathological data of TMA. On fundus examination, a severe acute hypertensive retinopathy was found. The kidney biopsy showed severe endothelial damage with widening of mucoid cells at the level of the intima, focal concentric proliferation on most small arterioles, and C3, C4d, and IgM deposits along the capillary walls. The genetic study of complement only showed the presence of membrane cofactor protein (MCP) risk haplotypes, without other genetic complement disorders. We understand that in a patient with TMA and SSc, the kidney damage would be fundamentally endothelial and of an acute type; moreover, we would observe clear evidence of complement activation. Once further studies correlate clinical-analytical data with anatomopathological studies, it is likely that we will be forced to redefine the SRC concept, focusing on the relationship between acute endothelial damage and complement activation.

Resumo Nas revisões de biópsias renais, a crise renal esclerodérmica (CRE) é caracterizada por lesões endoteliais vasculares, depósitos de C4d em vasos peritubulares e lesões agudas e crônicas que coexistem na mesma biópsia. Os sinais clínicos de microangiopatia trombótica (MAT) são descritos na esclerose sistêmica (ES); no entanto, não foram relacionados às lesões agudas descritas nas biópsias renais. Relatamos um caso de CRE em um paciente com síndrome de superposição de esclerodermia-dermatomiosite, que também apresentou dados clínicos e histopatológicos de MAT. No exame de fundo do olho, foi encontrada uma retinopatia hipertensiva aguda grave. A biópsia renal mostrou lesão endotelial grave com alargamento das células mucoides ao nível da íntima, proliferação concêntrica focal na maioria das pequenas arteríolas e depósitos de C3, C4d e IgM ao longo das paredes dos capilares. O estudo genético do complemento mostrou apenas a presença de haplótipos de risco da proteína cofator de membrana (PCM), sem outros distúrbios genéticos do complemento. Entendemos que em um paciente com MAT e ES, o dano renal seria fundamentalmente endotelial e do tipo agudo; além disso, observaríamos evidências claras de ativação do complemento. Uma vez que novos estudos correlacionam dados clínico-analíticos com estudos anatomopatológicos, é provável que sejamos forçados a redefinir o conceito de CRE, enfocando a relação entre dano endotelial agudo e ativação do complemento.

Ultrastructural changes detected using swept-source optical coherence tomography in severe vitreopapillary traction: a case report / Alterações ultraestruturais detectadas pela tomografia de coerência óptica de fonte de varredura em tração vitreopapilar grave: relato de caso

ABSTRACT Vitreopapillary traction is an uncommon condition characterized by strong adhesion and the traction of the posterior hyaloid onto the optic disc and peripapillary retina, leading to optic disc elevation and visual loss. An 85-year-old man presented with a 6-month history of slow, progressive visual loss in the left eye along with optic disc edema. Swept-source optical coherence tomography B-scans revealed circumpapillary anterior-posterior persistent traction of dense vitreous strands onto the optic disc. Visual field examination demonstrated mild, generalized, diffuse sensitivity loss and blind-spot enlargement. A 25-gauge posterior vitrectomy was performed with posterior hyaloid separation from the optic disc, resulting in significant anatomical and visual improvement. In conclusion, swept-source optical coherence tomography aids in understanding the mechanism underlying visual loss in vitreopapillary traction. Moreover, posterior vitrectomy can effectively promote anatomical and visual improvements in these cases.

RESUMO A tração vitreopapilar é uma condição incomum caracterizada por forte adesão e tração da hialoide posterior no disco óptico e retina peripapilar, levando à elevação do disco óptico e à perda visual. Um homem de 85 anos apresentou uma história de 6 meses de perda visual lenta e progressiva no olho esquerdo, juntamente com edema do disco óptico. A tomografia de coerência óptica por fonte de varredura revelou tração persistente ântero-posterior peripapilar com traves vítreas densas sobre o disco óptico. Exame de campo visual demonstrou perda de sensibilidade difusa, generalizada, leve e aumento do ponto cego. Uma vitrectomia posterior de calibre 25 foi realizada com separação hialóide posterior do disco óptico, resultando em melhora anatômica e visual significativa. Em conclusão, a tomografia de coerência óptica por fonte de varredura auxilia na compreensão do mecanismo subjacente à perda visual na síndrome de tração vitreopapilar. Além disso, a vitrectomia posterior pode efetivamente promover melhorias visuais e anatômicas nesses casos.