Visual Hallucinations as a Major Manifestation of Posterior Reversible Encephalopathy Syndrome: Case Report and Literature Review.

We evaluated a 48-year-old woman who had visual hallucinations (VHs) as a major presenting sign of posterior reversible encephalopathy syndrome (PRES). Despite her mild loss of vision, she described various hallucinations after awakening from a comatose state days after a motorcycle collision. VHs are usually accompanied by more severe loss of vision, yet our case and literature review indicate that sudden onset of formed VHs should suggest a possible diagnosis of PRES in patients who have large fluctuations in blood pressure, renal failure, or autoimmune dysfunction, as well as in patients taking cytotoxic agents.

Comparison of Visual Evoked Potentials in Patients Affected by Optic Neuritis From Multiple Sclerosis or Neuromyelitis Optica Spectrum Disorder.

PURPOSE: To compare the visual evoked potentials (VEPs) of optic neuritis (ON) patients with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and controls. To evaluate correlations between VEP and optical coherence tomography (OCT), contrast sensitivity (CS), and automated perimetry. METHODS: Fifty-five eyes with ON from 29 patients (MS = 14 and NMOSD = 15) and 57 eyes from 29 controls were evaluated using VEP, automated perimetry, CS, and optical coherence tomography. Three groups were analyzed: 1) MS eyes with history of ON (ON-MS), 2) NMOSD eyes with ON (ON-NMOSD), and 3) healthy controls. Groups were compared and associations between the parameters were tested. RESULTS: Compared to controls, ON-MS eyes showed significantly delayed N75 and P100 latencies when using a medium-sized stimulus (30'), and delayed P100 latency when using a large stimulus (1.5°), but similar amplitudes. Compared to controls, ON-NMOSD eyes showed significantly lower N75/P100 amplitudes (both stimulus sizes) and P100/N135 amplitudes (with the 30' stimulus), but latencies did not differ, except for a delayed P100 latency with the 30' stimulus. When comparing the 2 ON groups using the 1.5° stimulus, there was significant delay in P100 latency in ON-MS eyes and a reduction in N75/P100 amplitude in ON-NMOSD eyes. Peripapillary retinal nerve fiber layer, macular inner retinal layers, and CS measurements were significantly smaller in ON patients than in controls. A strong correlation was found between VEP parameters and inner retinal layer thickness in ON-NMOSD eyes. CONCLUSIONS: ON-MS eyes had normal amplitude and delayed VEP latency, whereas ON-NMOSD eyes displayed reduced amplitude and preserved latency when elicited by checkerboard stimulus with large 1.5° checks. Under such conditions, VEP may help distinguish resolved MS-related ON from resolved NMOSD-related ON.

Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis.

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.

The role of mannose-binding lectin (MBL) in diabetic retinopathy: A scoping review.

Diabetes mellitus (DM) is a chronic systemic disease characterized by a multifactorial nature, which may lead to several macro and microvascular complications. Diabetic retinopathy (DR) is one of the most severe microvascular complications of DM, which can result in permanent blindness. The mechanisms involved in the pathogenesis of DR are multiple and still poorly understood. Factors such as dysregulation of vascular regeneration, oxidative and hyperosmolar stress in addition to inflammatory processes have been associated with the pathogenesis of DR. Furthermore, compelling evidence shows that components of the immune system, including the complement system, play a relevant role in the development of the disease. Studies suggest that high concentrations of mannose-binding lectin (MBL), an essential component of the complement lectin pathway, may contribute to the development of DR in patients with DM. This review provides an update on the possible role of the complement system, specifically the lectin pathway, in the pathogenesis of DR and discusses the potential of MBL as a non-invasive biomarker for both, the presence and severity of DR, in addition to its potential as a therapeutic target for intervention strategies.

Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita.

Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.

Unilateral hemi-central retinal artery occlusion as a presenting sign of Susac syndrome.

A young woman presented at our clinic with sudden visual loss in the right eye, recurrent vertigo, and right-sided tinnitus. We performed a complete ophthalmological evaluation. This revealed effects of the condition on the small arterioles of the peripheral retina. Susac syndrome is characterized by the clinical triad of retinal arteriolar occlusions, cochleovestibular manifestations, and encephalopathy (which can be identified by neuroimaging abnormalities). Early diagnosis and immunosuppressive therapy improved the patient's visual acuity and the remission of her other symptoms. Hemi-central retinal artery occlusion is an atypical neuro-ophthalmological finding in this disease. However, its identification as a sign of Susac syndrome may facilitate timely diagnosis and accurate treatment.

Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis.

PURPOSE: Tuberous Sclerosis (TS) is a rare, multisystem genetic disease caused by mutations in the TSC1 and TSC2 genes, leading to abnormalities in cell differentiation and proliferation. This study aimed to evaluate the neural integrity of individuals with TS by using Optical Coherence Tomography (OCT) to examine the peripapillary retinal nerve fiber layer (RNFL) thickness and the macular thickness in patients with TS and to compare with healthy controls. METHODS: Peripapillary and macular OCT scans (Optopol Revo NX SD OCT) were performed on 41 eyes from 22 TS patients, divided into two groups based on the presence of retinal hamartomas, and compared to 20 eyes from a control group. The average peripapillary RNFL thickness was measured for each quadrant. The macular total thickness and ganglion cell layer (GCL) + inner plexiform layer (IPL) thickness were measured based on the Early Treatment Diabetic Retinopathy Study (ETDRS) map. All measurements were then compared between the groups and controls. RESULTS: The TS group showed significantly reduced RNFL thickness and macular thickness when compared to the control group. Specifically, patients with retinal hamartomas exhibited an even more pronounced thinning of both RNFL and macular thickness. CONCLUSIONS: These findings suggest that TS patients undergo significant changes in retinal neurodevelopment and experience axonal loss. This finding may have significant prognostic utility regarding central nervous system degeneration in TS, particularly among patients with retinal hamartomas. OCT may serve as a valuable tool for assessing axonal structural abnormalities in TS patients. TRIAL REGISTRATION NUMBER: Not applicable.

Pattern electroretinogram in neuromyelitis optica and multiple sclerosis with or without optic neuritis and its correlation with FD-OCT and perimetry.

PURPOSE: To evaluate the ability of transient pattern electroretinogram (PERG) parameters to differentiate between eyes of patients with neuromyelitis optica (NMO), longitudinally extensive transverse myelitis (LETM), multiple sclerosis with optic neuritis (MS + ON), multiple sclerosis without optic neuritis (MS - ON), and controls, to compare PERG and OCT with regard to discrimination ability, and to assess the correlation between PERG, FD-OCT, and visual field measurements (VFs). METHODS: Visual field measurements and full-field stimulation PERGs based on both 48- and 14-min checks were obtained from patients with MS (n = 28), NMO (n = 20), LETM (n = 18), and controls (n = 26). In addition, FD-OCT peripapillary retinal nerve fiber layer (RNFL) and segmented macular layer measurements were obtained and their correlation coefficients were determined. RESULTS: Compared to controls, PERG amplitude measurements were significantly reduced in eyes with NMO and MS + ON, but not in eyes with LETM and MS - ON. PERG amplitudes were significantly smaller in NMO and MS + ON eyes than in MS - ON eyes. PERG and OCT performance was similar except in NMO eyes where macular thickness parameters were more efficient at detecting abnormalities. A significant correlation was found between N95 amplitude values and OCT-measured macular ganglion cell layer thickness, total retinal thickness, and temporal peripapillary RNFL thickness. PERG amplitude was also significantly associated with VF sensitivity loss. No statistically significant difference was observed with regard to the best-performing parameters of the two methods. CONCLUSIONS: Pattern electroretinogram measurements were able to detect RNFL loss in MS + ON and NMO eyes, with a performance comparable to OCT. PERG amplitude measurements were reasonably well correlated with OCT-measured parameters.

Correlation between multifocal pattern electroretinography and Fourier-domain OCT in eyes with temporal hemianopia from chiasmal compression.

PURPOSE: To evaluate the correlation between multifocal pattern electroretinography (mfPERG) and Fourier-domain optical coherence tomography (FD-OCT) with regard to macular and retinal nerve fiber layer (RNFL) thickness in eyes with temporal hemianopia from chiasmal compression. METHODS: Twenty-five eyes from 25 patients with permanent temporal visual field defects from chiasmal compression and 25 healthy eyes were submitted to mfPERG using a stimulus pattern of 19 rectangles, standard automated perimetry and FD-OCT measurements. The mfPERG response was determined for groups of three rectangles for the nasal and temporal hemifields and for each quadrant. Macular thickness measurements were registered according to an overlaid OCT-generated checkerboard with 36 checks and averaged for the central area, and for each scanned quadrant and hemifield. RNFL thickness was determined for all twelve 30-degree segments around the disc, and averaged for the segments corresponding to the 6, 7, 8, 9, 10, 11 and 12 o'clock position. Correlations were verified with Pearson's correlation coefficients and linear regression analysis. RESULTS: Both mfPERG amplitudes and OCT measurements were significantly smaller in eyes with temporal visual field defects than in normals. A significant and strong correlation was found between most mfPERG and macular or RNFL thickness OCT parameters. CONCLUSIONS: mfPERG amplitudes and OCT measurements are significantly correlated in patients with chiasmal compression. Both technologies can quantify neuronal loss and, if used in combination, may help clarify structure-function relationships in this patient population.

Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT-SS description.

Retinal astrocytic hamartoma (RAH) is a benign glial tumor that may be present in patients with tuberous sclerosis (TS), contributing to the diagnosis of this syndrome. While hamartomas identified through indirect ophthalmoscopy are often large enough to affect vessels and optic disc anatomy, RAH not detected in previous fundoscopies may become apparent in optical coherence tomography (OCT). The purpose of this report was to describe and characterize RAH with OCT with swept-source technology (OCT-SS), aiming to establish a more comprehensive classification for these hamartomas due to their diverse presentations. Fundus examination of a 11-year-old girl revealed retinal tumors in both eyes. OCT-SS confirmed the diagnosis of TS, revealing dome-shaped hyperreflective masses at different stages of evolution. Lesion 1: maximum thickness (MT) of 336 µm and ganglion cell layer disorganization. Lesion 2: MT of 438 µm and preserved outer plexiform layer. Lesion 3: posterior shadow, MT of 1478 µm and complete rupture of retinal anatomy. Lesion 4: MT of 342 µm and preserved retinal anatomy. OCT is a noninvasive method which assists the diagnosis of subclinical lesions and clinical characterization of TS patients.

Optic Nerve Sheath Fenestration as Adjuvant Treatment for Severe Pseudotumor Cerebri Syndrome Induced by All-Trans Retinoic Acid.

All-trans retinoic acid (ATRA) is a vitamin A derivative which can increase intracranial pressure, causing visual loss and papilledema. Those patients should be treated similarly to others patients with idiopathic intracranial hypertension. We described a case of a 32-year-old woman presenting with severe visual loss and intracranial hypertension induced by ATRA for acute promyelocytic leukemia, which was treated clinically and with optic nerve sheath fenestration. Patients receiving ATRA therapy should be monitored to neurological and ophthalmic signs and symptoms of intracranial hypertension.

Severe bilateral visual loss as the first sign of IgA nephropathy.

We describe a case of a 33-years-old woman who presents with severe acute bilateral visual loss secondary to massive exudative hypertensive maculopathy as the first sign of immunoglobulin A nephropathy. The patient's ophthalmic examination showed bilateral cotton-wool spots, flame-shaped retinal hemorrhages, diffuse narrow arterioles, optic disk edema, and exudative maculopathy. Systemic workup demonstrated a systolic and diastolic blood pressure of 240 mmHg and 160 mmHg, respectively, proteinuria, and hematuria, suggesting kidney disease as the causative condition. A kidney biopsy confirmed immunoglobulin A nephropathy. She was treated with systemic corticosteroids, antihypertensive drugs, and a single bilateral intravitreal injection of aflibercept. There was a prompt resolution of macular edema and vision improvement. Our case draws attention to the fact that severe bilateral visual loss can be the first sign of severe hypertension. Secondary causes, such as immunoglobulin A nephropathy, should be ruled out.

Serous retinal detachment as an Early manifestation of lúpus choroidopathy.

Serous retinal detachment can be caused by a wide range of conditions, including systemic lupus erythematosus. Although this association has been well-described in patients with an established diagnosis of systemic lupus erythematosus, in rare cases, this detachment is the initial manifestation. We have described here an unusually challenging case in which serous retinal detachment required a comprehensive investigation considering that it was an early sign of systemic lupus erythematosus.

Contractile peripapillary staphyloma: OCTA documentation of increased peripapillary vessel density during transient visual loss episodes.

PURPOSE: to describe a patient with a contractile peripapillary staphyloma and transient visual loss (TVL) that underwent repeated OCTA examination documenting disc contraction and increased peripapillary vessel density as the mechanism of TVL. OBSERVATIONS: a 28-year-old male presented multiple daily episodes of TVL for the last 5 years. Fundoscopic examination revealed a peripapillary staphyloma. The fundus photographs and SS-OCT demonstrated flattening of the posterior polo and crowding of the contracted optic disk, which became hyperemic with tortuous and dilated veins during visual loss episodes. OCTA showed temporary increased peripapillary vessel density, presumably from severe venous congestion leading to TVL during the contraction. CONCLUSION AND IMPORTANCE: increased peripapillary vessel density can be demonstrated by OCTA during TVL in contractile peripapillary staphyloma. These findings indicate that severe venous stasis during disc contraction is the cause of TVL.

Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome.

Infantile hemangioma, the most common benign tumor in infancy, is usually an isolated condition occurring in many different locations in the body. However, large infantile hemangioma may be associated with other systemic malformations, including central nervous system, cerebrovascular, cardiac, and ophthalmology abnormalities, a condition termed PHACE syndrome. In this paper, we describe a case of PHACE syndrome that was presented with the unique association of a large facial infantile hemangioma and morning glory anomaly.

Homonymous quadrantic macular ganglion cell complex loss as a sign of trans-synaptic degeneration from occipital lobe lesion.

PURPOSE: to describe a patient with visual field (VF) defect from an occipital lobe lesion that was found to have macular ganglion cells complex (GCC) quadrantic reduction without significant peripapillary retinal nerve fiber layer (RNFL) loss on optical coherence tomography (OCT). To emphasize that macular GCC loss may be the major ocular manifestation of trans-synaptic optic pathway degeneration in occipital lobe lesions. OBSERVATIONS: A 15-year-old female was investigated after a VF examination revealed a right homonymous inferior quadrantanopia. Fundoscopic examination was completely normal as were the peripapillary retinal nerve fiber layer (RNFL) thickness measurements on OCT. Macular thickness measurements however, revealed superior homonymous quadrantic GCL reduction evidencing retinal neuronal loss in direct correspondence with her VF defect. Magnetic resonance imaging showed a localized left occipital lobe gliotic lesion as the explanation for her VF defect. CONCLUSIONS AND IMPORTANCE: Small post-geniculate optic pathway lesions may lead to retrograde trans-synaptic degeneration that can be detected on OCT-measured macular GCL measurements despite normal peripapillary RNFL estimates. Awareness of such occurrence in important to avoid diagnostic confusion with other anterior visual pathway diseases.

Glaucoma neovascular e esclerite necrosante com inflamação. Há uma relação? / Neovascular glaucoma and necrotizing scleritis with inflammation. Is there a relationship?

RESUMO O objetivo deste trabalho foi relatar um caso raro de glaucoma neovascular em paciente portador de diabetes mellitus tipo 1 que evoluiu para esclerite necrosante com inflamação. Homem, 22 anos e com diabetes mellitus tipo 1 mal controlada apresentou perda visual dolorosa súbita no olho direito. Acuidade visual em olho direito sem percepção luminosa e 20/80 em olho esquerdo. Pressão intraocular de 35mmHg e exame compatível com glaucoma neovascular em olho direito. Foi iniciado tratamento com colírios hipotensores no olho direito e panfotocoagulação a laser no olho esquerdo. Após 3 semanas, houve piora da dor, hiperemia e aparecimento de afinamento escleral na região superior de olho direito, com posterior protrusão uveal. Quadro compatível com esclerite anterior necrosante com inflamação, apesar das sorologias para doenças autoimunes negativas. Ainda que raro, este relato de associação de glaucoma neovascular e esclerite justifica a discussão dos mecanismos inflamatórios em comum nessas doenças, para melhor compreensão da patogênese dessas graves apresentações clínicas.

ABSTRACT The aim of this study was to report a rare case of neovascular glaucoma in a patient with type 1 diabetes mellitus that progressed to necrotizing scleritis with inflammation. A 22-year-old male with poorly controlled type 1 diabetes mellitus experienced sudden painful vision loss on the right eye. Visual acuity on the right eye was no light perception, while it was 20/80 in the left eye. Intraocular pressure was measured at 35 mmHg, and the examination was consistent with neovascular glaucoma on the right eye. Treatment with hypotensive eye drops was initiated in the right eye, and panphotocoagulation laser therapy was performed on the left eye. After three weeks, there was worsening pain, redness, and the appearance of scleral thinning in the upper region of the right eye, followed by uveal protrusion. This presentation was consistent with necrotizing anterior scleritis with inflammation, despite negative serology for autoimmune diseases. Although rare, this report of the association between neovascular glaucoma and scleritis justifies the discussion of common inflammatory mechanisms in these diseases to enhance the understanding of the pathogenesis of these severe clinical presentations.

Mannose Binding Lectin and Pentraxin 3 in Patients with Diabetic Retinopathy.

BACKGROUND: Mannose binding lectin (MBL) is a protein of the complement system and pentraxin-3 (PTX3) is an acute phase protein both with an important role in inflammatory diseases, such as diabetic retinopathy (DR). AIM OF THE STUDY: To evaluate whether plasma MBL and PTX3 levels are associated with the development of DR and if patients with and without DR can be distinguished. METHODS: The patients were divided into three groups: diabetic without DR; with mild/moderate DR, and with severe/proliferative DR. PTX3 and MBL levels were measured with enzyme-linked immunosorbent assay kits. RESULTS: A total of 74 patients were included. A significant association was observed between high levels of MBL and severe DR; 47% of patients with severe/proliferative DR had high levels of MBL, whereas 12% of the patients with diabetes but no DR had high levels of MBL (p = 0.008; odds ratio [OR]: 6.06; 95% confidence interval [CI]: 1.4-25.0). High levels of MBL were more frequent in patients with severe/proliferative disease (47%) when compared to those with mild/moderate DR (20%), p = 0.04 (OR: 3.46; 95% CI: 1.0-11.8). PTX3 levels were similar among the groups and were not related to the development or severity of DR. CONCLUSION: We found a significant association between high plasma MBL levels and DR development as well as with severe/proliferative DR. We observed no relationship between plasma PTX3 levels and the development or severity of DR.