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PURPOSE: To provide a review of the literature on oculodermal melanocytosis (ODM) with a focus on the diagnostic and therapeutic implications of multimodal imaging techniques in the management of ophthalmic complications. METHODS: The authors carried out a literature search on PubMed, Medline, and Scopus of English language articles published on ODM through August 2021. This review presents traditional and novel diagnostic methods in the diagnosis and follow-up of patients with particular emphasis on addressing the role of imaging in the management of the ophthalmic complications of the condition towards improving current practice patterns. RESULTS: ODM is a rare, prevalently unilateral, congenital condition that presents with brown or blue/gray flat asymptomatic lesions of the skin, mucosae, episclera/sclera, and uvea localized within the territory of distribution of the ophthalmic and mandibular branches of the trigeminal nerve. Glaucoma and predisposition to uveal melanoma are the main ophthalmic complications. Diagnosis and management are through comprehensive opthalmological examination and traditional imaging methods such as ultrasonography and fluorescein/indocyanine green angiography as pigmentation of the fundus can conceal subtle retinal and choroidal alterations. Anterior segment optical coherence tomography and ultrasound biomicroscopy are used to evaluate the anterior segment and the ciliary body in the presence of glaucoma or melanoma of the anterior uveal tract. Fundus autofluorescence and retinal pigment epithelium (RPE) alterations are of aid in the differential diagnosis between choroidal nevi and melanoma. Enhanced depth imaging spectral domain optical coherence tomography offers outstanding in vivo evaluation of the dimensions and details of tumors or nevi and surrounding choroidal tissues and small choroidal melanomas may show distortions of the retinal and sub-retinal profile, presence of intra and sub-retinal fluid, abnormalities of the RPE, and compression of the choriocapillaris. CONCLUSIONS: Novel multimodal imaging techniques are significant in the diagnosis and management of the ophthalmic complications of ODM. Fundus autofluorescence and enhanced depth spectral domain optical coherence tomography have adjunctive value in the detection of early-stage melanoma and differential diagnosis between nevi and melanoma. Awareness of current and emerging imaging techniques can propagate improved standardized definition and assessment of the complications of ODM.
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Neoplasias da Coroide , Glaucoma , Melanoma , Nevo de Ota , Neoplasias Cutâneas , Humanos , Nevo de Ota/diagnóstico , Nevo de Ota/patologia , Melanoma/diagnóstico , Melanoma/patologia , Neoplasias da Coroide/diagnóstico , Tomografia de Coerência Óptica/métodos , Neoplasias Cutâneas/patologiaRESUMO
PURPOSE: To assess inflammatory changes in the anterior vitreous (AV) using a swept source anterior segment optical coherence tomography (SS-ASOCT) and to correlate them with uveitis features and clinical grading of intraocular inflammation. METHODS: 140 eyes from 96 patients were included in this observational, cross-sectional study: 40 ACTIVE uveitis, 40 INACTIVE uveitis and 60 CONTROLS. All eyes underwent intraocular inflammation clinical grading (anterior chamber (AC) cells counting and vitreous haze evaluation) and AV imaging with SS-ASOCT. Cells seen in the AV on OCT were manually counted using imageJ. Vitreous reflectivity variation was indirectly measured by calculating the vitreous/iris pigment epithelium (VIT/IPE) relative intensity. These OCT-based parameters were compared across the groups and correlated with inflammation clinical grading. RESULTS: The mean [SD] number of AV OCT cells was significantly higher (both p < 0.001) in ACTIVE uveitis (12[9.8]) compared to INACTIVE uveitis (4.5[3.5]) and CONTROLS (4[3.1]). In ACTIVE uveitis the number of AV OCT cells was significantly and positively correlated with the AC cells (p = 0.04), the VIT/IPE relative intensity (p = 0.0002), the uveitis anatomical classification (INTERMEDIATE UVEITIS, p = 0.02) and the vitreous haze clinical grading (p < 0.0001). The mean[SD] VIT/IPE relative intensity of the AV increased from CONTROLS (0.12[0.01]) to INACTIVE uveitis (0.15[0.01]) to ACTIVE uveitis (0.17[0.02]), but with no statistically significant differences. CONCLUSIONS: We were able to visualize and objectively evaluate changes occurring in the AV in eyes with uveitis by means of a commercially available SS-ASOCT. OCT-cells in the AV could represent an adjunctive tool in the objective evaluation of intraocular inflammation.
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Vogt-Koyanagi-Harada (VKH) is a rare multisystem inflammatory disease affecting the eyes, ears, brain, skin, and hair. The Coronavirus Disease 2019 (COVID-19) is a new contagious infection that might trigger the onset of VKH disease, as previously proposed for other viruses. Moreover, after the mass vaccination against SARS-CoV-2 worldwide, cases of VKH disease associated with COVID-19 vaccination have been reported. We present an overview of VKH and a comprehensive literature revision of all the VKH cases described after COVID-19 infection and vaccination, adding our experience. No differences have been found considering epidemiology and clinical findings of the disease compared to those reported in the no-COVID era. All of the patients promptly responded to systemic and local corticosteroid therapy with a good final visual prognosis. Different possible pathogenetic mechanisms underlying the onset of VKH after COVID-19 vaccination are discussed, while the presence of the HLA DR4 antigen as a genetic predisposition for the onset of the disease after COVID-19 infection and vaccination is proposed. VKH disease is one of the most frequently reported uveitic entities after COVID-19 vaccination, but a good response to therapy should not discourage vaccination. Nevertheless, ophthalmologists should be alerted to the possibility of VKH occurrence or relapse after COVID-19 vaccination, especially in genetically predisposed subjects.
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Ocular trauma affects millions of people worldwide and is a leading cause of secondary glaucoma. Angle recession is the main cause of post-traumatic glaucoma after blunt eye trauma, and it is usually unilateral. The aim of this paper is to investigate the possible causes of angle recession with a bilateral presentation. Airbag activation during traffic accidents is a likely cause to be ruled out, along with repeated head or eye trauma, due to contact sports or a history of physical abuse. These aspects can aid in early detection, appropriate management, and improved outcomes for patients with ocular trauma. Finally, we report the case of a 75-year-old Caucasian man who developed a bilateral angle recession after an airbag impact, with advanced glaucoma in the right eye and ocular hypertension in the left eye. To our knowledge, this is the first case in the literature of chronic post-traumatic glaucoma probably caused by an airbag.
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In this comprehensive review, we delve into the significance of the ocular fundus examination in diagnosing and managing systemic infections at the bedside. While the utilization of advanced ophthalmological diagnostic technologies can present challenges in bedside care, especially for hospitalized patients confined to their beds or during infection outbreaks, the ocular fundus examination often emerges as an essential, and sometimes the only practical, diagnostic tool. Recent discussions have highlighted that the role of an ocular fundus examination might not always be advocated as a routine diagnostic procedure. With this context, we introduce a decision tree tailored for assessing the ocular fundus in inpatients with systemic infections. We also present an overview of systemic infections that impact the eye and elucidate key signs detectable through a bedside ocular fundus examination. Targeted primarily at non-ophthalmology clinicians, this review seeks to offer a comprehensive insight into a multifaceted approach and the enhancement of patient clinical outcomes.
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PURPOSE: to study in patients with Behçet disease and ocular involvement (OBD) the presence of SARS-CoV-2 infection and its influence on the course of OBD. METHODS: all the patients with OBD living in Lazio, one Italian region, and attending the Uveitis center of the Sapienza University of Rome were included in the study. RESULTS: SARS-CoV-2 infection was found in 12.3% of 54 patients with OBD and in 3.84% of Lazio inhabitants (p = 0.001, OR 3.51), and it was unrelated to the use of immunosuppressive drugs. COVID-19 symptoms in OBD patients were mild, with one patient only requiring hospitalization for interstitial pneumonia. None of the SARS-CoV-2 infected patients presented any uveitis relapses during the infection and in a subsequent median follow-up of 6 months. CONCLUSION: OBD seems to be a risk factor for developing SARS-CoV-2 infection. Usually this infection has a mild course and does not impact negatively on the course of uveitis.
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Parvovirus B-19 (B19V) is a common infection in children, occasionally complicated by ocular manifestations. In patients infected with severe acute respiratory syndrome virus (SARS-CoV-2), many cases of bacterial, fungal, and viral co-infections have been described. We report on a case of bilateral conjunctivitis, keratitis, and anterior uveitis that occurred in a patient co-infected by B19V and SARS-CoV-2. A young nurse developed, 20 days after the onset of asthenia and fever, a maculopapular rash and, in the following month, B19V-related arthritis. Shortly after a course of antibiotics and corticosteroids and the resolution of the arthritis, she began to complain of hearing loss and tinnitus. A polymerase chain reaction for SARS-CoV-2, previously negative, turned out positive; IgM for B19V decreased while IgG increased and antinuclear autoantibody and rheumatoid factor test results were positive. Ear symptoms disappeared after a course of prednisone, but eye burning and itching appeared 2 weeks after the coronavirus disease 2019 (COVID-19) positive swab. Bilateral conjunctivitis, keratitis, and anterior uveitis were diagnosed, which responded completely to a topical corticosteroid and mydriatic therapy. No relapses were observed in the following 12 months. The onset and progression of the symptoms, along with the laboratory findings, suggest a double pathogenesis of the ocular manifestations: keratitis and uveitis, along with the ear symptoms, seem to be the expression of an autoimmune reaction to B19V infection, while the conjunctivitis was likely related to direct infection of the conjunctiva by SARS-CoV-2.
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PURPOSE: To report a relapse of Vogt-Koyanagi-Harada (VKH) disease in a patient after COVID-19 vaccination. CASE REPORT: A VKH disease patient, well controlled on azathioprine therapy, presented a uveitis relapse eleven days after the first vaccination for COVID-19. She received an induction high-dose intravenous corticosteroid therapy, followed by oral therapy, which led to a complete recovery from the uveitis in two weeks. No relapses occurred in the following five months of follow-up. Despite high-dose corticosteroid therapy and azathioprine, and one dose only of vaccination, the patient resulted positive for anti-RBD spike COV19 antibody. CONCLUSION: Relapse of VKH disease can occur after COVID-19 vaccination, despite an appropriate immunosuppressive therapy is ongoing. It responds to the classic therapy for VKH, and a serological response to an incomplete COVID-19 vaccination can also be found.
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Vacinas contra COVID-19 , COVID-19 , Uveíte , Síndrome Uveomeningoencefálica , Feminino , Humanos , Corticosteroides/uso terapêutico , Azatioprina/uso terapêutico , Doença Crônica , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Recidiva , Uveíte/induzido quimicamente , Uveíte/tratamento farmacológico , Síndrome Uveomeningoencefálica/induzido quimicamente , Síndrome Uveomeningoencefálica/diagnóstico , Síndrome Uveomeningoencefálica/tratamento farmacológico , VacinaçãoRESUMO
Background: Vogt−Koyanagi−Harada (VKH) disease is a form of uveitis that is rare in Western countries. The aim of this study was to report on the long-term real-life treatment and prognosis of VKH in Italy. Methods: The clinical features, complications, and final visual acuity were retrospectively evaluated in 38 patients with VKH (mean follow-up: 120 months) globally, according to oral or intravenous corticosteroid treatment at onset and subsequent immunosuppressive therapy. Results: The mean final visual acuity was 0.13 ± 0.4 logMAR, which was a significant increase from the baseline (p < 0.0001). The patients who received intravenous rather than oral corticosteroids relapsed less (p = 0.026), with fewer relapses/patient/month of follow-up (p < 0.0001), and showed less frequent sunset glow fundus (33.3% versus 55%) and more relapse-free cases after induction therapy (p = 0.007). Delayed immunosuppressive therapy (median: 180 days from the onset of symptoms) reduced the rate of sunset glow fundus. The onset of sunset glow fundus was associated with a worse final visual acuity (p = 0.006). Conclusion: The long-term prognosis of VKH is quite good. Intravenous corticosteroids given at the onset of VKH are more effective than oral corticosteroids. Even if it is not given immediately after symptoms onset, immunosuppressive therapy is able to reduce the incidence of sunset glow fundus and to improve the final visual prognosis.
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PURPOSE: To study the epidemiological and clinical features of uveitis post-COVID-19 vaccination. PATIENTS AND METHODS: Retrospective chart review of patients presenting with uveitis after COVID-19 vaccination in tertiary uveitis services. RESULTS: In total, 25 patients, 76% females, mean age 43.2 years, were included. Uveitis occurred after Pfizer, Moderna, Astra-Zeneca and Covaxin vaccination. Anterior uveitis was the most frequent type of uveitis (56%). History of uveitis was found in 19 cases (76%), among whom 90.9% of the tested patients developed anti-Sars-CoV-2 spike antibodies after vaccination. In a mean follow-up of 5 months, one-line decrease in visual acuity was found in 12% of patients. During post-vaccine uveitis, 15.8% of cases needed an increase in their systemic therapy. According to Naranjo score, new-onset uveitis had a higher probability of being associated with vaccination (p < .01). CONCLUSION: COVID-19 vaccination can cause uveitis but has no significant impact on the visual prognosis after resolution.
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Vacinas contra COVID-19 , COVID-19 , Uveíte , Adulto , Feminino , Humanos , Masculino , Anticorpos Antivirais , COVID-19/epidemiologia , Vacinas contra COVID-19/efeitos adversos , Seguimentos , Prognóstico , Estudos Retrospectivos , Uveíte/induzido quimicamente , Uveíte/diagnóstico , Uveíte/epidemiologia , Vacinação/efeitos adversosRESUMO
Rett Syndrome (RTT) is a rare X-linked neurodevelopmental disorder which affects about 1: 10000 live births. In >95% of subjects RTT is caused by a mutation in Methyl-CpG binding protein-2 (MECP2) gene, which encodes for a transcription regulator with pleiotropic genetic/epigenetic activities. The molecular mechanisms underscoring the phenotypic alteration of RTT are largely unknown and this has impaired the development of therapeutic approaches to alleviate signs and symptoms during disease progression. A defective proteasome biogenesis into two skin primary fibroblasts isolated from RTT subjects harbouring non-sense (early-truncating) MeCP2 mutations (i.e., R190fs and R255X) is herewith reported. Proteasome is the proteolytic machinery of Ubiquitin Proteasome System (UPS), a pathway of overwhelming relevance for post-mitotic cells metabolism. Molecular, transcription and proteomic analyses indicate that MeCP2 mutations down-regulate the expression of one proteasome subunit, α7, and of two chaperones, PAC1 and PAC2, which bind each other in the earliest step of proteasome biogenesis. Furthermore, this molecular alteration recapitulates in neuron-like SH-SY5Y cells upon silencing of MeCP2 expression, envisaging a general significance of this transcription regulator in proteasome biogenesis.