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PURPOSE: Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals with OI. To address this medical need, this study is aimed to design and validate a new method called 'BLUES' (BLUe Eye Sclera) to objectively identify and quantify the blue color in the sclera of patients affected by OI. METHODS: Sixty-two patients affected by OI and 35 healthy controls were enrolled in the present prospective study, for a total of 194 eyes analyzed. In the 'BLUES' procedure, eye images from patients with OI and control subjects were analyzed to assess and grade the blue level of the sclera using Adobe Photoshop Software. The validation process then involved comparing the results obtained with the 'BLUES' procedure to the judgement of experienced ophthalmologists (JEO). A receiver-operating characteristic (ROC) curve analysis was used to examine the overall discriminatory power. The sensitivity and specificity levels and the Cohen's Kappa (K) indexes of 'BLUES' and 'JEO' were estimated versus the standard OI diagnosis. The K indexes of 'BLUES' versus 'JEO' were also evaluated. RESULTS: The optimal cut-off point of the scleral blue peak was calculated at 17%. Our findings demonstrated a sensitivity of 89% (CI95%: 0.835-0.945) and specificity of 87% (CI95%: 0.791-0.949) for the 'BLUES' procedure with an agreement versus the diagnosis of OI of 0.747. In comparison, the sensitivity and specificity of 'JEO' ranged from 89 to 94% and 77% to 100%, respectively, with an agreement ranging from 0.663 to 0.871 with the diagnosis of OI. The agreement between 'BLUES 'and 'JEO' evaluations ranged from 0.613 to 0.734. CONCLUSIONS: Our findings demonstrated an 89% sensitivity and an impressive 87% specificity of our method to analyze the blue sclera in OI. The results indicated high agreement with disease diagnosis and were consistent with evaluations by experienced ophthalmologists. The 'BLUES' procedure appears to be a simple, reliable and objective method for effectively identify and quantify the blue color of the sclera in OI.
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Osteogênese Imperfeita , Esclera , Humanos , Osteogênese Imperfeita/patologia , Osteogênese Imperfeita/diagnóstico , Esclera/patologia , Feminino , Masculino , Estudos Prospectivos , Adolescente , Criança , Adulto , Adulto Jovem , Pré-Escolar , Curva ROCRESUMO
Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs). In the last years, new manifestations have been identified in the ocular district in NF1 including choroidal abnormalities (CAs), hyperpigmented spots (HSs) and retinal vascular abnormalities (RVAs). Recent advances in multi-modality imaging in ophthalmology have allowed for the improved characterization of these clinical signs. Accordingly, CAs, easily detectable as bright patchy nodules on near-infrared imaging, have recently been added to the revised diagnostic criteria for NF1 due to their high specificity and sensitivity. Furthermore, subclinical alterations of the visual pathways, regardless of the presence of OPGs, have been recently described in NF1, with a primary role of neurofibromin in the myelination process. In this paper, we reviewed the latest progress in the understanding of choroidal and retinal abnormalities in NF1 patients. The clinical significance of the recently revised diagnostic criteria for NF1 is discussed along with new updates in molecular diagnosis. New insights into NF1-related neuro-ophthalmic manifestations are also provided based on electrophysiological and optical coherence tomography (OCT) studies.
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Neurofibromatoses , Neurofibromatose 1 , Humanos , Neurofibromatose 1/diagnóstico por imagem , Corioide , Pele , PálpebrasRESUMO
PURPOSE: To report the case of persistent corneal epithelial defect in total limbal stem cell deficiency (LSCD) after severe firework-related ocular burn treated with autologous Platelet-Rich Plasma (PRP). CASE DESCRIPTION: A young patient, victim of fireworks trauma, presented with a large persistent epithelial defect affecting the central cornea of his left eye and progressing to stromal melting, in the context of grade VI ocular surface burn with 12â h limbal involvement. Impression cytology to the cornea confirmed a complete LSCD. Assessment of corneal sensitivity by Cochet Bonnet esthesiometer revealed complete corneal anesthesia. Based on progressive clinical worsening under conventional therapy, the patient was started on very pure autologous PRP eye drops obtained using the Hy-Tissue PRP® technology. Six times a day eye drops administration for 30 days was scheduled in the affected eye. At the end of treatment, the epithelial defect had disappeared being replaced by advancing conjunctiva. CONCLUSION: Our findings provide information on management of ocular burns from fireworks, a subject of current interest and concern. Autologous PRP eye drops prepared using the Hy-Tissue PRP® system and administered in the presence of total LSCD and complete corneal anesthesia, prevented corneal stromal melting to progress and allowed the ocular surface epithelial coverage to re-establish. This paved the way for later successful restorative and reconstructive intervention. Also, first description of the Hy-tissue PRP procedure for ophthalmological use is reported.
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Doenças da Córnea , Epitélio Corneano , Queimaduras Oculares , Oftalmopatias , Deficiência Límbica de Células-Tronco , Limbo da Córnea , Humanos , Células-Tronco do Limbo , Limbo da Córnea/metabolismo , Córnea , Transplante Autólogo , Doenças da Córnea/etiologia , Doenças da Córnea/terapia , Transplante de Células-TroncoRESUMO
The waning effectiveness of the primary vaccination for SARS-CoV-2 led to administration of an additional booster dose (BD). The efficacy of the BD in stimulating humoral systemic immune response is well established, but its effectiveness on inducing mucosal immune reaction has not yet been reported. To address this issue, we evaluated SARS-CoV-2-specific antibody responses in the serum, saliva, and tears after BNT162b2 (Pfizer/BioNTech, New York, NY, USA) vaccination and BD, as well as after SARS-CoV-2 infection. After two doses of BNT162b2 vaccine, we observed specific serum IgG in 100% and IgA in 97.2% of subjects, associated with mucosal response in both salivary samples (sIgA in 97.2% and IgG(S) in 58.8%) and in tears (sIgA in 77.8% and IgG(S) in 67.7%). BD induced a recovery of the systemic humoral response and of tear sIgA when compared to 6 months of follow-up titers (p < 0.001; p = 0.012). However, sIgA levels in both tears and saliva were significantly lower following BD when compared to patients with prior SARS-CoV-2 infection (p = 0.001 and p = 0.005, respectively). Our results demonstrated that administration of BD restored high serum levels of both IgG and IgA but had a poor effect in stimulating mucosal immunity when compared to prior SARS-CoV-2 infection.
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Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been characterized in NF1. The CAs, identified with near-infrared reflectance, have been reported with a frequency of up to 100% in NF1, and have recently been added to the actual diagnostic criteria for NF1. The present Letter to the journal is intended to provide an update on features and clinical significance of CAs in NF1. Moreover, the relation with other ocular manifestations recently described in NF1 including hyperpigmented spots and retinal microvascular abnormalities is discussed.
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Neurofibroma , Neurofibromatose 1 , Glioma do Nervo Óptico , Manchas Café com Leite , Humanos , Neurofibromatose 1/diagnóstico , RetinaRESUMO
AIM: To examine neuroretinal function by using the multifocal electroretinography (mfERG) test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs). METHODS: This study was conducted on 35 patients (35 eyes) with NF1 and 30 healthy subjects (30 eyes) for the control group. Each subject underwent a complete ophthalmological examination including spectral domain-optical coherence tomography (SD-OCT) and mfERG. The 1.5-Tesla magnetic resonance imaging (MRI) scan of the brain was performed in NF1 patients to assess the presence of OPGs. All participants were recruited having a best corrected visual acuity (BCVA) of no less than 20/20 in each eye. The amplitude and implicit time of the P1 wave (first-order Kernel component) were evaluated on mfERG. Data analysis was carried out in the two central degrees and in the four quadrants from two to 25 degrees of visual field. RESULTS: Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy controls, while the reduction was not significant in the 2 central degrees between the groups. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes detected in the nasal quadrants. No differences in the implicit times were recorded in the 2 central degrees and in the 4 quadrants as compared between NF1 patients and controls. CONCLUSION: Impaired neuroretinal function in NF1 patients is expressed in a decreased amplitude of the P1-wave between 2 and 25 central retinal degrees on mfERG. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, can be involved. The possible use of mfERG as subclinical retinal damage indicator has a potential utility in clinical practice for the follow-up of NF1 patients.
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Ocular fibrosis leads to severe visual impairment and blindness worldwide, being a major area of unmet need in ophthalmology and medicine. To date, the only available treatments are antimetabolite drugs that have significant potentially blinding side effects, such as tissue damage and infection. There is thus an urgent need to identify novel targets to prevent/treat scarring and postsurgical fibrosis in the eye. In this review, the latest progress in biological mechanisms underlying ocular fibrosis are discussed. We also summarize the current knowledge on preclinical studies based on viral and non-viral gene therapy, as well as chemical inhibitors, for targeting TGFß or downstream effectors in fibrotic disorders of the eye. Moreover, the role of angiogenetic and biomechanical factors in ocular fibrosis is discussed, focusing on related preclinical treatment approaches. Moreover, we describe available evidence on clinical studies investigating the use of therapies targeting TGFß-dependent pathways, angiogenetic factors, and biomechanical factors, alone or in combination with other strategies, in ocular tissue fibrosis. Finally, the recent progress in cell-based therapies for treating fibrotic eye disorders is discussed. The increasing knowledge of these disorders in the eye and the promising results from testing of novel targeted therapies could offer viable perspectives for translation into clinical use.
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Oftalmopatias , Transdução de Sinais , Fator de Crescimento Transformador beta/metabolismo , Oftalmopatias/metabolismo , Oftalmopatias/patologia , Fibrose , HumanosRESUMO
The current standard treatment of myopic choroidal neovascularisation (mCNV) is intravitreal injection of VEGF antagonists. This study was proposed to assess efficacy and safety of intravitreal bevacizumab (IVB) for the treatment of mCNV across a 10-year follow-up. Thirty eyes of thirty patients with treatment-naïve mCNV who underwent IVB and were followed up with for a minimum of ten years were recruited for the present retrospective cohort study. All participants were treated with three monthly IVB at baseline and then evaluated and treated under pro re nata (PRN) schedule. Outcome measures were to determine BCVA changes over years and identify the predictive factors of both final visual outcome and need for retreatment. Analysis of the main involved prognostic factors with correlations among variables is reported. Visual acuity remained stable at 10-year follow-up (p = 0.001) with the greatest improvement at 2 years (p < 0.0001) in all CNV locations. Baseline BCVA correlated positively with final BCVA (ß = 0.88, p < 0.0001, R2: 0.75). No predictive factors for the need of additional injections were identified. Retinal and choroidal thickness significantly reduced over time but without correlation with the number of injections. CNV max height and area significantly decreased at 10 years (p < 0.0001 and p = 0.003, respectively), with complete regression of mCNV lesion in 40% of subjects. Intravitreal bevacizumab resulted as long-term effective and safe therapy for mCNV with sustained results at 10 years.
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Hypoxia, a condition of low oxygen availability, is a hallmark of tumour microenvironment and promotes cancer progression and resistance to therapy. Many studies reported the essential role of hypoxia in regulating invasiveness, angiogenesis, vasculogenic mimicry and response to therapy in melanoma. Melanoma is an aggressive cancer originating from melanocytes located in the skin (cutaneous melanoma), in the uveal tract of the eye (uveal melanoma) or in mucosal membranes (mucosal melanoma). These three subtypes of melanoma represent distinct neoplasms in terms of biology, epidemiology, aetiology, molecular profile and clinical features.In this review, the latest progress in hypoxia-regulated pathways involved in the development and progression of all melanoma subtypes were discussed. We also summarized current knowledge on preclinical studies with drugs targeting Hypoxia-Inducible Factor-1, angiogenesis or vasculogenic mimicry. Finally, we described available evidence on clinical studies investigating the use of Hypoxia-Inducible Factor-1 inhibitors or antiangiogenic drugs, alone or in combination with other strategies, in metastatic and adjuvant settings of cutaneous, uveal and mucosal melanoma.Hypoxia-Inducible Factor-independent pathways have been also reported to regulate melanoma progression, but this issue is beyond the scope of this review.As evident from the numerous studies discussed in this review, the increasing knowledge of hypoxia-regulated pathways in melanoma progression and the promising results obtained from novel antiangiogenic therapies, could offer new perspectives in clinical practice in order to improve survival outcomes of melanoma patients.
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Hipóxia Celular/fisiologia , Melanoma/complicações , Neoplasias Cutâneas/complicações , Progressão da Doença , Humanos , Melanoma/patologia , Neoplasias Cutâneas/patologiaRESUMO
BACKGROUND: Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neurofibromin, a protein with oncosuppressive activity, and it is 50% sporadic or inherited. The disease is characterized by a broad spectrum of clinical manifestations, mainly involving the nervous system, the eye and skin, and a predisposition to develop multiple benign and malignant neoplasms. Ocular diagnostic hallmarks of NF1 include optic gliomas, iris Lisch nodules, orbital and eyelid neurofibromas, eyelid café-au-lait spots. Choroidal nodules and microvascular abnormalities have recently been identified as additional NF1-related ocular manifestations. The present study was designed to describe the features and clinical significance of a new sign related to the visual apparatus in NF-1, represented by hyperpigmented spots (HSs) of the fundus oculi. RESULTS: HSs were detected in 60 (24.1%) out of 249 patients with NF1, with a positive predictive value of 100% and a negative predictive value of 44.2%. None of the healthy subjects (150 subjects) showed the presence of HSs. HSs were visible under indirect ophthalmoscopy, ultra-wide field (UWF) pseudocolor imaging and red-only laser image, near-infrared reflectance (NIR)-OCT, but they were not appreciable on UWF green reflectance. The location and features of pigmentary lesions matched with the already studied NF1-related choroidal nodules. No significant difference was found between the group of patients (n = 60) with ocular HSs and the group of patients (n = 189) without ocular pigmented spots in terms of age, gender or severity grading of the disease. A statistically significant association was demonstrated between the presence of HSs and neurofibromas (p = 0.047), and between the presence of HSs and NF1-related retinal microvascular abnormalities (p = 0.017). CONCLUSIONS: We described a new ocular sign represented by HSs of the fundus in NF1. The presence of HSs was not a negative prognostic factor of the disease. Following multimodal imaging, we demonstrated that HSs and choroidal nodules were consistent with the same type of lesion, and simple indirect ophthalmoscopy allowed for screening of HSs in NF1.
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Neurofibromatose 1 , Glioma do Nervo Óptico , Manchas Café com Leite/diagnóstico , Feminino , Fundo de Olho , Humanos , Neurofibromatose 1/diagnóstico , OftalmoscopiaRESUMO
BACKGROUND: Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the large application of Next Generation Sequencing (NGS) approaches improved the diagnostic yield, elucidating previously unexplained RP causes and new genotype-phenotype correlations. The objective of this study was to reevaluate a previously reported family affected by Coats'-type RP without genetic diagnosis and to describe the new genetic findings. CASE PRESENTATION: Cohort, prospective, and single-center observational family case. Three individuals of a family, consisting of a mother and four sons, with a Coats phenotype were revaluated after 25 years of clinical follow-up using visual acuity tests, ophthalmoscopy, Goldmann visual field, electroretinography (ERG), and spectral domain-optical coherence tomography (SD-OCT). Specifically, a RP NGS panel was performed on one member of the family and segregation analysis was required for the other affected and unaffected members. NGS analysis disclosed a RPGR (Retinitis Pigmentosa GTPase Regulator) gene truncating variant segregating with the phenotype in all the three affected members. RPGR mutations are reported as causative of an X-linked RP. CONCLUSIONS: This is the first reported family with a Coats'-type RP associated to a RPGR mutation and segregating as a dominant X-linked disease, confirming the hypothesis of the genetic origin of this condition and expanding the phenotypic spectrum of diseases caused by RPGR gene mutations. The Authors suggest RPGR gene screening mutations in patients presenting this phenotype.
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Angiomatose , Doenças Genéticas Ligadas ao Cromossomo X , Análise Mutacional de DNA , Eletrorretinografia , Proteínas do Olho/genética , Humanos , Mutação , Linhagem , Estudos ProspectivosRESUMO
Uveal melanoma (UM) is the most common intraocular cancer. In recent decades, major advances have been achieved in the diagnosis and prognosis of UM allowing for tailored treatments. However, nearly 50% of patients still develop metastatic disease with survival rates of less than 1 year. There is currently no standard of adjuvant and metastatic treatment in UM, and available therapies are ineffective resulting from cutaneous melanoma protocols. Advances and novel treatment options including liver-directed therapies, immunotherapy, and targeted-therapy have been investigated in UM-dedicated clinical trials on single compounds or combinational therapies, with promising results. Therapies aimed at prolonging or targeting metastatic tumor dormancy provided encouraging results in other cancers, and need to be explored in UM. In this review, the latest progress in the diagnosis, prognosis, and treatment of UM in adjuvant and metastatic settings are discussed. In addition, novel insights into tumor genetics, biology and immunology, and the mechanisms underlying metastatic dormancy are discussed. As evident from the numerous studies discussed in this review, the increasing knowledge of this disease and the promising results from testing of novel individualized therapies could offer future perspectives for translating in clinical use.
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The aim of this study is to investigate the potential neuroprotective effect of high-doses vitamins B1, B6 and B12 in patients with relapsing-remitting multiple sclerosis (RRMS) and persistent visual loss after acute optic neuritis (AON). Sixteen patients (20 eyes) diagnosed with RRMS and visual permanent disability following AON were enrolled for the present open, pilot study. Each patient was treated with oral high-doses 300 mg of vitamin B1, 450 mg of vitamin B6 and 1,500 mcg of vitamin B12, as add-on treatment to concomitant disease-modifying therapies (DMTs) for consecutive 90 days. Outcome measures were to determine changes from baseline to month three in visual acuity (VA) and visual field (VF) testing, with correlations with clinical parameters. Logistical regression was performed to evaluate predictors of final VA. A statistically significant improvement was registered in visual acuity (p = 0.002) and foveal sensitivity threshold (FT) (p = 0.006) at follow-up compared to baseline. A similar trend was demonstrated for mean deviation (MD) (p < 0.0001), and pattern standard deviation (PSD) (p < 0.0001). Age at the time of inclusion was positively correlated with latency time (rho = 0.47, p = 0.03), while showing a negative correlation with visual acuity (rho = - 0.45, p = 0.04) and foveal sensitivity threshold (rho = - 0.6, p = 0.005) at follow up. A statistically significant correlation was demonstrated between foveal sensitivity threshold and visual acuity at baseline (rho = 0.79, p < 0.0001). In a linear regression model, the main predictor of visual acuity at follow up was the foveal sensitivity threshold (B = 1.39; p < 0.0001). Supplemental high-dose vitamins B1, B6 and B12 resulted as effective therapy to improve visual function parameters in MS-related visual persistent disability.
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Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Tiamina/administração & dosagem , Transtornos da Visão/tratamento farmacológico , Vitamina B 12/administração & dosagem , Vitamina B 6/administração & dosagem , Adulto , Feminino , Humanos , Masculino , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Esclerose Múltipla Recidivante-Remitente/epidemiologia , Projetos Piloto , Transtornos da Visão/diagnóstico , Transtornos da Visão/epidemiologia , Complexo Vitamínico B/administração & dosagemRESUMO
BACKGROUND: Intraorbital metallic foreign bodies have varied clinical presentations. Here, we report the unusual case of intraoperative evidence of spontaneously healed posterior scleral perforation in a severe ballistic trauma without previous instrumental signs of penetrating wound and complete visual restoration after surgery. CASE PRESENTATION: The patient was hit by several lead hunting pellets in the chest, abdomen, limbs, face and orbit. Computed Tomography (CT) images revealed the presence of a pellet within the orbitary cavity, close to the optic nerve, with no signs of penetrating ocular wound. While performing vitrectomy for severe vitreous hemorrhage, a point of strong adherence between a old hemorrhage and retinal surface was identified and managed conservatively, as it was attributed to trauma related-impact area. So, lead foreign body took an unusual trajectory impacting the globe and finally lodging back in the deep orbitary cavity, in absence of significant ocular injury and with visual prognosis preservation. CONCLUSIONS: Our findings provide further information on orbital injuries from airguns, a theme of growing popularity and concern. Intraoperative recognition of hardly removable old hemorrhagic clot as self-blockage site of posterior scleral penetrating trauma, allowed for surgical stabilization and minimal solicitation of the area to avoid inadvertent perforation.
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Corpos Estranhos no Olho/diagnóstico , Ferimentos Oculares Penetrantes/diagnóstico , Procedimentos Cirúrgicos Oftalmológicos/métodos , Esclera/lesões , Acuidade Visual , Corpos Estranhos no Olho/cirurgia , Ferimentos Oculares Penetrantes/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Esclera/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Purpose: To describe the clinical characteristics and visual prognosis of ocular involvement in syphilis.Design: A retrospective cohort study.Methods: We studied the charts of 24 patients who visited our Ophthalmological Centre in Rome, Italy. All patients with serological evidence of syphilitic infection were included.Results: Ocular involvement was the first manifestation of syphilitic disease in 96% and Human Immunodeficiency Virus (HIV) seropositivity was found in 29% of the cases. The most frequent ocular manifestation was posterior uveitis. Vitreous involvement was frequent. Patients with papillitis at onset showed better visual outcome with antisyphilitic treatment. Posterior uveitis at onset and HIV seropositivity were negative prognostic factors for visual outcome. HIV-positive patients showed more severe and frequent bilateral course of ocular involvement in syphilis.Conclusions: The ophthalmologist should suspect syphilis in patien ts with uveitis or optic neuropathy associated with high-risk sexual behaviour and/or HIV, or in patients with posterior placoid chorioretinitis, necrotising retinitis, or interstitial keratitis.
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Endoftalmite/diagnóstico , Infecções Oculares Bacterianas/diagnóstico , Angiofluoresceinografia/métodos , Encaminhamento e Consulta , Sífilis/diagnóstico , Adulto , Endoftalmite/epidemiologia , Infecções Oculares Bacterianas/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Sífilis/epidemiologia , Tomografia de Coerência ÓpticaRESUMO
BACKGROUND: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Despite the scarce medical literature on the topic, ocular involvement in this syndrome is frequent and at the level of various ocular structures. Our study focuses on the visual apparatus and its annexes in subjects with this syndrome, in order to better understand how this syndrome affects the ocular system, and to evaluate with greater accuracy and precision the nature of these manifestations in this group of patients. RESULTS: Our study confirms the presence of the commonly cited ocular findings in the general literature regarding the syndrome [hypertelorism (45.5%), congenital cataract (18%), nystagmus (9%), colobomas (9%)] and highlights strabismus (63% of the patients), epiretinal membranes (36%) and myelinated optic nerve fiber layers (36%) as the most frequent ophthalmological findings in this group of patients. CONCLUSIONS: The presence of characteristic and frequent ocular signs in the Gorlin- Goltz syndrome could help with the diagnostic process in subjects suspected of having the syndrome who do not yet have a diagnosis. The ophthalmologist has a role as part of a multidisciplinary team in managing these patients. The ophthalmological follow-up that these patients require, can allow, if necessary, a timely therapy that could improve the visual prognosis of such patients.
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Síndrome do Nevo Basocelular/patologia , Oftalmopatias/patologia , Adolescente , Adulto , Idoso , Síndrome do Nevo Basocelular/genética , Carcinoma Basocelular/genética , Carcinoma Basocelular/patologia , Catarata/genética , Catarata/patologia , Coloboma/genética , Coloboma/patologia , Oftalmopatias/genética , Feminino , Humanos , Hipertelorismo/genética , Hipertelorismo/patologia , Masculino , Pessoa de Meia-Idade , Receptor Patched-1/genética , Adulto JovemRESUMO
Introduction: Neuromyelitis optica spectrum disorders (NMOSD) are autoimmune diseases of the central nervous system mainly involving the optic nerves and spinal cord. Many advances have been made in understanding the immunopathology of NMOSD and related clinical classification, nevertheless, open issues in management and effective therapeutic approaches still remain. Areas covered: In this article, the authors reviewed and discussed the scientific evidence in pathogenesis and pharmacological therapy of NMOSD addressing the more recent advances in new biological treatment option and therapeutic strategy that may help to improve management of this condition. Expert opinion: Despite current immunopathogenic evidence, NMOSD management represents a challenge due to the poor-validated diagnostic, prognostic and therapeutic biomarkers. A tailored approach is mandatory to improve the management of the different disease clinical settings.