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.

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.

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.

Severe bilateral visual loss as the first sign of IgA nephropathy / Perda visual bilateral grave como o primeiro sinal da nefropatia por IgA

ABSTRACT 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.

RESUMO Nosso objetivo é descrever uma paciente de 33 anos de idade, com perda visual bilateral grave por maculopatia hipertensiva exsudativa como o primeiro sinal da nefropatia por imunoglobulina A. A fundoscopia revelou a presença de manchas algodonosas, hemorragias em chama-de-vela, estreitamento arteriolar difuso, edema de disco óptico e maculopatia exsudativa bilateral. A pressão arterial sistólica foi de 240mmHg e a diastólica de 160 mmHg associado a proteinúria e hematúria, sugerindo a presença de doença renal. A biópsia renal confirmou a nefropatia por imunoglobulina A. A paciente foi tratada como corticoide sistêmico, drogas anti-hipertensivas e uma única dose intravítrea de Aflibercept em ambos os olhos. Houve rápida melhora do edema macular e da acuidade visual. Nosso caso chama a atenção para o fato de que a perda visual bilateral grave pode ser a primeira apresentação de uma doença hipertensiva sistêmica. Causas secundárias como a nefropatia por imunoglobulina A devem ser afastadas.

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.

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.

Serous retinal detachment as an Early manifestation of lúpus choroidopathy / Descolamento seroso de retina como manifestação inicial de coroidopatia lúpica

ABSTRACT 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.

RESUMO Descolamento seroso de retina pode ser causado por uma variedade de patologias, incluindo o lúpus eritematoso sistêmico. Embora essa associação seja bem estabelecida em pacientes com diagnóstico prévio de lúpus eritematoso sistêmico, o descolamento seroso de retina raramente é a manifestação inicial. Descrevemos um caso incomum e desafiador, o qual demandou ampla investigação por ter sido o descolamento seroso de retina a manifestação inicial do lúpus eritematoso sistêmico.

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.

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.

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.

Acute up-beating nystagmus in a pregnant woman with hyperemesis gravidarum.

PURPOSE: To describe a case of sudden onset of nystagmus in a pregnant patient with hyperemesis gravidarum. OBSERVATIONS: Sixteen days after onset of persistent nausea and uncontrollable vomiting, a 12 week pregnant woman presented up-beating nystagmus, mild memory impairment and reduced sensitivity in the lower limbs. Laboratory tests presented thiamine deficiency and magnetic resonance imaging showed bilateral medial thalami and midbrain lesions. Because of suspected Wernicke's encephalopathy, the patient was treated with thiamine replacement and significant improvement of symptoms took place. CONCLUSIONS AND IMPORTANCE: Uncontrollable vomiting can lead to malabsorption of vitamin B1 causing acute onset of nystagmus.

Relationship Between Pattern Electroretinogram, Frequency-Domain OCT, and Automated Perimetry in Chronic Papilledema From Pseudotumor Cerebri Syndrome.

PURPOSE: We evaluated the ability of transient pattern electroretinogram (PERG) parameters to differentiate between eyes with visual field (VF) loss and resolved papilledema from pseudotumor cerebri syndrome (PTC) and controls, to compare PERG and optical coherence tomography (OCT) with regard to discrimination ability, and to assess the correlation between PERG, frequency domain OCT (FD-OCT), and VF measurements. METHODS: The VFs and full-field stimulation PERGs based on 48 and 14-min checks were obtained from patients with PTC (n = 24, 38 eyes) and controls (n = 26, 34 eyes). In addition, FD-OCT peripapillary retinal nerve fiber layer (RNFL) and segmented macular layer measurements were obtained and correlation coefficients were determined. RESULTS: Compared to controls, PERG N95 and P50+N95 amplitude measurements with 48-minute checks were significantly reduced in eyes with resolved papilledema from PTC. Both PERG N95 amplitude and OCT parameters were able to discriminate papilledema eyes from controls with a similar performance. Significant correlations, ranging from 0.25 (P < 0.05) to 0.43 (P < 0.01) were found between PERG amplitude values and OCT-measured macular ganglion cell layer thickness, RNFL thickness, and total retinal thickness. The PERG amplitude also was significantly associated with VF sensitivity loss with correlation coefficients ranging from 0.24 (P < 0.05) and 0.35 (P < 0.01). CONCLUSIONS: The PERG measurements were able to detect neural loss in PTC eyes with resolved papilledema and were reasonably well correlated with OCT measurements and VF parameters. Thus, PERG may be a useful tool in the monitoring of retinal neural loss in eyes with active papilledema from PTC.

Evaluation of inner retinal layers in eyes with temporal hemianopic visual loss from chiasmal compression using optical coherence tomography.

PURPOSE: We measured macular inner retinal layer thicknesses using frequency-domain optical coherence tomography (fd-OCT) and correlated these measures with visual field (VF) in eyes with temporal hemianopia from chiasmal compression and band atrophy (BA) of the optic nerve. METHODS: Macular fd-OCT scans and VFs were obtained from 33 eyes of 33 patients with temporal hemianopia and 36 control eyes. The macular retinal nerve fiber layer (mRNFL), combined retinal ganglion cell and inner plexiform layers (RGCL+), and the inner nuclear layer (INL) were segmented. Measurements were averaged for each macula quadrant. Scans were assessed qualitatively for microcysts in the INL. The VF was estimated from the central 16 test points. The two groups were compared. Correlations between VF and OCT measurements were assessed. RESULTS: The mRNFL, RGCL+, and total retinal (TR) macular thickness measurements were significantly smaller in BA eyes than controls. In the nasal quadrants, INL measurements were significantly greater in BA eyes than controls. The mRNFL and RGCL+ measurements had greater discrimination ability than TR measurements in the temporal quadrants. A significant correlation was found between most OCT parameters and their corresponding VF parameters. The strongest association was observed between RNFL and RGCL+ thickness, and VF loss in the corresponding area. The INL microcysts were found in seven eyes with BA, but not in controls. CONCLUSIONS: Band atrophy leads to mRNFL and RGCL+ thinning, and INL thickening, and mRNFL and RGCL+ measurements are correlated strongly with VF loss. Segmented macular thickness measurements may be useful for quantifying neuronal loss in chiasmal compression.