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Introduction: The use of robotic systems in the surgical domain has become groundbreaking for patients and surgeons in the last decades. While the annual number of robotic surgical procedures continues to increase rapidly, it is essential to provide the surgeon with innovative training courses along with the standard specialization path. To this end, simulators play a fundamental role. Currently, the high cost of the leading VR simulators limits their accessibility to educational institutions. The challenge lies in balancing high-fidelity simulation with cost-effectiveness; however, few cost-effective options exist for robotic surgery training. Methods: This paper proposes the design, development and user-centered usability study of an affordable user interface to control a surgical robot simulator. It consists of a cart equipped with two haptic interfaces, a VR visor and two pedals. The simulations were created using Unity, which offers versatility for expanding the simulator to more complex scenes. An intuitive teleoperation control of the simulated robotic instruments is achieved through a high-level control strategy. Results and Discussion: Its affordability and resemblance to real surgeon consoles make it ideal for implementing robotic surgery training programs in medical schools, enhancing accessibility to a broader audience. This is demonstrated by the results of an usability study involving expert surgeons who use surgical robots regularly, expert surgeons without robotic surgery experience, and a control group. The results of the study, which was based on a traditional Peg-board exercise and Camera Control task, demonstrate the simulator's high usability and intuitive control across diverse user groups, including those with limited experience. This offers evidence that this affordable system is a promising solution for expanding robotic surgery training.
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Introduction: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the AHDC1 gene. Hallmark features include global developmental delay, facial dysmorphisms, and behavioral problems. To date, more than 250 individuals have been diagnosed worldwide. Case Report: We report a 13-year-old female who, in association with typical features of Xia-Gibbs syndrome, presented with macrocrania, pes cavus, and conjunctival melanosis. Whole-exome sequencing identified a de novo frameshift variant, which had not been reported in the literature before. Conclusion: We summarized the main clinical and phenotypic features of patients described in the literature, and in addition, we discuss another feature found in our patient and observed in other cases described, eye asymmetry, which has never been highlighted, and suggest that it could be part of the typical clinical presentation of this condition.
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The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, including four fetuses, from eight unrelated families associated with homozygous loss-of-function variant alleles of ESAM which encodes an endothelial cell adhesion molecule. The c.115del (p.Arg39Glyfs∗33) variant, identified in six individuals from four independent families of Southeastern Anatolia, severely impaired the in vitro tubulogenic process of endothelial colony-forming cells, recapitulating previous evidence in null mice, and caused lack of ESAM expression in the capillary endothelial cells of damaged brain. Affected individuals with bi-allelic ESAM variants showed profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses. Phenotypic traits observed in individuals with bi-allelic ESAM variants overlap very closely with other known conditions characterized by endothelial dysfunction due to mutation of genes encoding tight junction molecules. Our findings emphasize the role of brain endothelial dysfunction in NDDs and contribute to the expansion of an emerging group of diseases that we propose to rename as "tightjunctionopathies."
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Encefalopatias , Moléculas de Adesão Celular , Malformações do Sistema Nervoso , Transtornos do Neurodesenvolvimento , Animais , Camundongos , Alelos , Encefalopatias/genética , Moléculas de Adesão Celular/genética , Células Endoteliais/metabolismo , Hemorragias Intracranianas/genética , Malformações do Sistema Nervoso/genética , Transtornos do Neurodesenvolvimento/genética , Junções Íntimas/genética , HumanosRESUMO
PURPOSE: The purpose of this study was to report the long-term efficacy and clinical outcomes of microcatheter-assisted circumferential trabeculotomy (MCT) in children with primary congenital glaucoma (PCG). METHODS: This is a single-center retrospective study including consecutive children with PCG who underwent MCT with > two years follow up. The primary outcome was surgical success, defined as intraocular pressure (IOP) ≤ 21 mmHg with (qualified) or without (complete) medications, measured at six months, one year, and then annually. Secondary outcomes were visual acuity (VA), refraction, axial length (AXL), complications, reinterventions, and number of medications. RESULTS: Twelve eyes of ten patients were included. In eight children only one eye was affected. The mean ± standard deviation (SD) age at surgery was 6.3 ± 4.1 months. The mean postoperative follow-up was 66 ± 35 months. The mean IOP was 34.3 ± 9.6 mmHg preoperatively and 14.6 ± 2.3 mmHg postoperatively at the last visit (p < 0.001). Complete success was achieved at all time points in 10 out of 12 eyes, while 2 eyes had a qualified success. At three years of age, the mean VA of the operated eyes was 0.25 ± 0.12 logMAR, the mean spherical equivalent was -0.78 ± 1.43 diopters, and the mean AXL was 23.78 mm. Transient hyphema was the only complication observed. None of the children required additional glaucoma surgery. CONCLUSIONS: Circumferential trabeculotomy for PCG effectively lowers the IOP at more than two years after surgery. Following this procedure, the prognosis for the visual function is good, and the refractive error is low. Postoperative complications were not significant.
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Cranio-lenticulo-sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family (Boyadjiev et al., Human Genetics, 2003, 113, 1-9 and Boyadjiev et al., Nature Genetics, 2006, 38, 1192-1197) showed recessive inheritance of the condition with a biallelic SEC23A missense variant in affected individuals. In contrast, another child with sporadic CLSD had a monoallelic SEC23A variant inherited from the reportedly unaffected father (Boyadjiev et al., Clinical Genetics, 2011, 80, 169-176), raising questions on possible digenism. Here, we report a 2-month-old boy seen because of large fontanels with wide cranial sutures, a large forehead, hypertelorism, a thin nose, a high arched palate, and micrognathia. His mother was clinically unremarkable, while his father had a history of large fontanels in infancy who had closed only around age 10 years; he also had a large forehead, hypertelorism, a thin, beaked nose and was operated for bilateral glaucoma with exfoliation of the lens capsule. Trio genome sequencing and familial segregation revealed a monoallelic c.1795G > A transition in SEC23A that was de novo in the father and transmitted to the proband. The variant predicts a nonconservative substitution (p.E599K) in an ultra-conserved residue that is seen in 3D models of yeast SEC23 to be involved in direct binding between SEC23 and SAR1 subunits of the coat protein complex II coat. This observation confirms the link between SEC23A variants and CLSD but suggests that in addition to the recessive inheritance described in the original family, SEC23A variants may result in dominant inheritance of CLSD, possibly by a dominant-negative disruptive effect on the SEC23 multimer.
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Mutação de Sentido Incorreto , Proteínas de Transporte Vesicular , Sequência de Bases , Criança , Humanos , Lactente , Masculino , Mutação de Sentido Incorreto/genética , Proteínas de Transporte Vesicular/genéticaRESUMO
This study compared the outcomes of cataract surgery with intraocular lens (IOL) implantation in patients with juvenile idiopathic arthritis (JIA)-associated chronic anterior uveitis treated with antimetabolite drugs and systemic corticosteroids (Non-Biological Group) versus patients treated with antimetabolites and biological drugs (Biological Group). A cohort of patients with cataract in JIA-associated uveitis undergoing phacoemulsification with IOL implantation was retrospectively evaluated. The main outcome was a change in corrected distance visual acuity (CDVA) in the two groups. Ocular and systemic complications were also recorded. The data were collected preoperatively and at 1, 12, and 48 months after surgery. Thirty-two eyes of 24 children were included: 10 eyes in the Non-Biological Group and 22 eyes in the Biological Group. The mean CDVA improved from 1.19 ± 0.72 logMAR preoperatively to 0.98 ± 0.97 logMAR at 48 months (p = 0.45) in the Non-Biological Group and from 1.55 ± 0.91 logMAR preoperatively to 0.57 ± 0.83 logMAR at 48 months (p = 0.001) in the Biological Group. The postoperative complications, including synechiae, cyclitic membrane, IOL explantation, glaucoma, and macular edema, were not statistically different between the two groups. An immunosuppressive treatment with biological drugs can improve the visual outcome after cataract surgery in patients with JIA-associated uveitis, but it does not significantly reduce postoperative ocular complications.
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PURPOSE: To describe a surgical maneuver that allows for correction of central Descemet membrane (DM) folds at the end of a deep anterior lamellar keratoplasty (DALK) procedure. We term the present technique "DM tucking." METHODS: A blunt tip spatula is introduced vertically into the trephination cut, 90 degrees away from the main direction of the DM folds, and advanced until it touches the host layer. Gentle pressure is applied, resulting in tucking of the redundant host layer toward the periphery. The tucking maneuver is repeated at different clock hours until a regular graft-host interface is obtained. RESULTS: We applied the present technique to several DALK procedures performed for keratoconus, and found it to be safe and effective. CONCLUSIONS: DALK is the procedure of choice for the surgical treatment of corneal stromal diseases with a healthy endothelium, such as keratoconus. DM folds are a possible complication after DALK in patients with advanced corneal ectasia, arising from the compression of the redundant host DM by the donor graft, once it is sutured to the recipient. DM folds after DALK, when they involve the visual axis, cause permanent visual disturbances DM tucking allows the displacement of the central DM folds toward the graft margin, where they do not affect the patient's quality of vision.
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Doenças da Córnea/cirurgia , Lâmina Limitante Posterior/cirurgia , Ceratoplastia Penetrante/métodos , Substância Própria/cirurgia , Humanos , Ceratoplastia Penetrante/instrumentaçãoRESUMO
PURPOSE: To report our preliminary experience with a central descemetorhexis without graft placement in Fuchs endothelial corneal dystrophy (FECD) and to review the existing literature on the topic. METHODS: A 4-mm central descemetorhexis was performed in 5 patients (4 women, 1 man; mean age: 69.8 ± 8.6 yrs; range: 57-78 yrs) with FECD. All patients had central confluent guttae, undetectable central endothelial cell count, healthy peripheral corneal endothelium, no clinically evident bullous keratopathy, and no ocular comorbidities. In 3 patients, the procedure was combined with phacoemulsification and intraocular lens implantation. RESULTS: All patients completed at least 6 months of postoperative follow-up (mean follow-up 9 ± 2.5 mo; 7-13 mo). Endothelial repopulation of the central stroma was completed in all patients by the third month. Corneal clarity was achieved in 4 of 5 patients. The patient with persistent edema and haze had the highest preoperative central pachymetry. A final improvement in corrected visual acuity was achieved in 4/5 patients. A reduction in preoperative central pachymetry was observed in all cases. All patients developed deep stromal opacities around the margin of the descemetorhexis, which did not resolve over the follow-up time. Abnormal corneal topography and irregular astigmatism developed in 3 of 5 patients; these patients achieved 20/20 corrected distance visual acuity with rigid gas-permeable contact lens fitting. CONCLUSIONS: In partial concordance with previous studies, preliminary outcomes of a central descemetorhexis in FECD performed without endothelial graft placement seemed rather unpredictable. Baring of central stroma may trigger a variable wound-healing response with subsequent posterior stromal scarring and topographical irregularity.
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Lâmina Limitante Posterior/cirurgia , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Distrofia Endotelial de Fuchs/cirurgia , Idoso , Topografia da Córnea , Feminino , Seguimentos , Distrofia Endotelial de Fuchs/fisiopatologia , Humanos , Implante de Lente Intraocular , Masculino , Pessoa de Meia-Idade , Facoemulsificação , Estudos Prospectivos , Pseudofacia/fisiopatologia , Acuidade Visual/fisiologiaRESUMO
PURPOSE: To study the accommodation process in normal eyes using a commercially available clinical system based on swept-source anterior segment optical coherence tomography (AS-OCT). SETTING: Ophthalmology Department, University of Parma, Italy. DESIGN: Evaluation of diagnostic technology. METHODS: Right eyes were analyzed using swept-source AS-OCT (Casia SS-1000). The optical vergence of the internal coaxial fixation target was adjusted during imaging to obtain monocular accommodation stimuli with different amplitudes (0, 3.0, 6.0, and 9.0 diopters [D]). Overlapping of real and conjugate OCT images enabled imaging of all the anterior segment optical surfaces in a single frame. Central corneal thickness (CCT), anterior chamber depth (ACD), and lens thickness were extracted from the OCT scans acquired at different static accommodation stimulus amplitudes. The crystalline lens was analyzed dynamically during accommodation and disaccommodation by acquiring sequential OCT images of the anterior segment at a rate of 8 frames per second. The lens thickness was extracted from the temporal sequence of OCT images and plotted as a function of time. RESULTS: The study analyzed 14 eyes of 14 subjects aged 18 to 46 years. During accommodation, the decrease in the ACD was statistically significant (P < .05), as were the increase in the lens thickness (P < .001) and the slight movement forward of the lens central point (P < .01). The CCT and anterior chamber width measurements did not change statistically significantly during accommodation. The lens thickness at 0 D was positively correlated with age (P < .01). CONCLUSION: High-resolution real-time imaging and biometry of the accommodating anterior segment can be effectively performed using a commercially available swept-source AS-OCT clinical device. FINANCIAL DISCLOSURE: No author has a financial or proprietary interest in any material or method mentioned.
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Acomodação Ocular/fisiologia , Segmento Anterior do Olho/anatomia & histologia , Tomografia de Coerência Óptica/métodos , Adolescente , Adulto , Biometria , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Inherited maculopathies, age related macular degeneration and some forms of retinitis pigmentosa are associated with impaired function or loss of the retinal pigment epithelium (RPE). Among potential treatments, transplantation approaches are particularly promising. The arrangement of RPE cells in a well-defined tissue layer makes the RPE amenable to cell or tissue sheet transplantation. Different cell sources have been suggested for RPE transplantation but the development of a clinical protocol faces several obstacles. The source should provide a sufficient number of cells to at least recover the macula area. Secondly, cells should be plastic enough to be able to integrate in the host tissue. Tissue sheets should be considered as well, but the substrate on which RPE cells are cultured needs to be carefully evaluated. Immunogenicity can also be an obstacle for effective transplantation as well as tumorigenicity of not fully differentiated cells. Finally, ethical concerns may represent drawbacks when embryo-derived cells are proposed for RPE transplantation. Here we discuss different cell sources that became available in recent years and their different properties. We also present data on a new source of human RPE. We provide a protocol for RPE differentiation of retinal stem cells derived from adult ciliary bodies of post-mortem donors. We show molecular characterization of the in vitro differentiated RPE tissue and demonstrate its functionality based on a phagocytosis assay. This new source may provide tissue for allogenic transplantation based on best matches through histocompatibility testing.
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Doenças Retinianas/cirurgia , Epitélio Pigmentado da Retina/citologia , Transplante de Células-Tronco , Células-Tronco/citologia , Técnicas de Cultura de Células/métodos , Células Cultivadas , Corpo Ciliar/citologia , Ensaios Clínicos como Assunto , HumanosRESUMO
BACKGROUND: Herein we report a case of bilateral anterior ischemic optic neuropathy (AION) showing histopathologic evidence of AL-amyloidosis of the temporal arteries. It is known that light-chain (AL) amyloidosis may rarely affect the temporal arteries, mimicking giant cell arteritis, while, to our knowledge, the association between AL-amyloidosis and AION was not previously described. CASE PRESENTATION: A 64 year-old woman with AL-amyloidosis secondary to a monoclonal gammopathy of undetermined significance (MGUS) referred to our hospital for acute painless drop of vision due to bilateral AION. Age greater than 50 years, high erythrocyte sedimentation rate (ESR), and bilateral AION were suggestive of giant cell arteritis (GCA). However, a temporal artery biopsy excluded GCA, showing segmental stenosis of the lumen caused by amyloidosis of the artery wall. CONCLUSIONS: The present case shows that AL-amyloidosis may present with AION, high ESR, and temporal artery involvement, mimicking GCA. In patients with monoclonal gammopathies, C-reactive protein may be a more specific index of GCA compared with the ESR. Patient medical history and pathology are crucial for a correct diagnosis.
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Neuropatias Amiloides/patologia , Arterite de Células Gigantes/patologia , Neuropatia Óptica Isquêmica/complicações , Artérias Temporais/patologia , Sedimentação Sanguínea , Proteína C-Reativa/análise , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Gamopatia Monoclonal de Significância Indeterminada/complicaçõesRESUMO
This report describes two cases of Acremonium sp. endophthalmitis, occurring in two patients who underwent cataract surgery on the same day in the same operating room of our hospital ophthalmology clinic. Diagnosis of fungal endophthalmitis was established by the repeated isolation of the same fungal agent from vitreous washing, acqueous fluid and intraocular lens samples and by its identification on the basis of morphological and molecular features. The cases reported in this study emphasize the need for clinical microbiology laboratories to be prepared to face the diagnosis of uncommon infectious diseases such as exogenous fungal endophthalmitis by Acremonium, and to enhance the awareness of surgeons and clinicians of this occurrence.
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Acremonium/isolamento & purificação , Extração de Catarata/efeitos adversos , Endoftalmite/microbiologia , Complicações Pós-Operatórias/microbiologia , Acremonium/genética , Idoso , Endoftalmite/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atenção Terciária à SaúdeRESUMO
PURPOSE: To study the characteristics of late-onset capsular block syndrome (CBS) using swept-source anterior segment optical coherence tomography (AS-OCT) and assess morphometric variations after treatment with neodymium:YAG (Nd:YAG) laser posterior capsulotomy. SETTING: Ophthalmology, University of Parma, Parma, Italy. DESIGN: Case series. METHODS: Patients with late-onset CBS had an ophthalmology evaluation, including slitlamp photography and AS-OCT, before and 1 month after ND:YAG laser posterior capsulotomy. The diameter of the anterior capsulorhexis, the posterior displacement of the posterior capsule, and the anterior chamber depth (ACD) were measured using AS-OCT. Measurements before and after Nd:YAG laser posterior capsulotomy were compared using the paired t test. RESULTS: The study evaluated 6 patients. Slitlamp examination showed accumulation between the intraocular lens (IOL) and the posterior capsule of milky-white or particulate liquefied material that appeared hyperreflective on AS-OCT and caused posterior displacement of the posterior capsule (mean 1.38 mm). The diameter of the anterior capsulorhexis (mean 4.5 mm) was smaller than the IOL optic in all cases. After uneventful Nd:YAG laser posterior capsulotomy, the corrected distance visual acuity improved in all patients (P<.01). The ACD (IOL position) and refraction did not change significantly after the capsulotomy (P=.15 and P=.36, respectively). CONCLUSIONS: Anterior segment OCT allowed accurate imaging and measurement of anterior segment parameters in late-onset CBS. No displacement of the IOL was found after treatment with Nd:YAG laser posterior capsulotomy. Neodymium:YAG laser posterior capsulotomy was an effective and safe therapy in the 6 late-onset CBS cases.
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Segmento Anterior do Olho/patologia , Opacificação da Cápsula/diagnóstico , Capsulotomia Posterior , Complicações Pós-Operatórias , Tomografia de Coerência Óptica , Idoso , Opacificação da Cápsula/etiologia , Opacificação da Cápsula/cirurgia , Capsulorrexe , Feminino , Humanos , Lasers de Estado Sólido , Implante de Lente Intraocular , Pessoa de Meia-Idade , Refração Ocular/fisiologia , Acuidade Visual/fisiologiaRESUMO
PURPOSE: To report a new sporadic case of membrane frizzled-related protein gene (MFRP)-related syndrome with a 30-month follow-up, and to review the literature for genotype-phenotype correlation in MFRP mutations. METHODS: A complete ophthalmological evaluation was performed at presentation and 30 months later, including best-corrected visual acuity test, slit lamp examination, fundoscopy, kinetic perimetry, electroretinography, fundus imaging (color, red-free, and autofluorescence), and morphologic-biometric analysis of the eye structures with an optical biometer, anterior-segment optical coherence tomography, retinal optical coherence tomography, and a confocal scanning laser for optic nerve head study. Polymerase chain reaction amplification of DNA obtained from peripheral blood lymphocytes and nucleotide sequencing of the complete MFRP gene were performed. The literature on cases of posterior microphthalmos and retinitis pigmentosa associated with MFRP mutations was reviewed. RESULTS: A 33-year-old female patient presented with posterior microphthalmos, retinitis pigmentosa with patches of retinal pigmented epithelium atrophy and scarce pigment mobilization, foveoschisis, and optic nerve drusen. After 30 months, progression of rod-cone retinal degeneration was detected. One obligate carrier showed a normal eye phenotype. A homozygote mutation in the MFRP gene (c.492delC), predicting a truncated protein (P166fsX190), was identified with genetic analysis. To our knowledge, 17 cases of MFRP-related syndrome have been reported in the literature, including the patient described herein. The phenotype of the syndrome, expressivity, and age of onset varied among and within the affected families. However, all patients sharing homozygous mutation c.492delC (alternatively named c.498delC) showed a complete phenotype (including foveoschisis and optic nerve head drusen), and similar fundus characteristics. CONCLUSIONS: A new sporadic case of MFRP-related syndrome is reported. Review of the literature showed variability in the phenotype, but initial elements of genotype-phenotype correlation have been identified in patients sharing the mutation of the present case.
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Proteínas de Membrana/genética , Microftalmia/genética , Drusas do Disco Óptico/genética , Retinose Pigmentar/genética , Adulto , Sequência de Bases , Técnicas de Diagnóstico Oftalmológico , Feminino , Seguimentos , Estudos de Associação Genética , Homozigoto , Humanos , Microftalmia/complicações , Microftalmia/patologia , Dados de Sequência Molecular , Mutação , Drusas do Disco Óptico/complicações , Drusas do Disco Óptico/patologia , Retinose Pigmentar/complicações , Retinose Pigmentar/patologiaRESUMO
PURPOSE: To assess accuracy and repeatability of central corneal thickness (CCT) measurements obtained by swept-source anterior segment optical coherence tomography (AS-OCT), spectral-domain retinal OCT with corneal module and ultrasound pachymetry (USP), and to assess repeatability of pachymetric mapping with AS-OCT. METHODS: 50 healthy volunteers were recruited. A single, experienced operator analysed the right eye of each participant twice in the same session with AS-OCT ('corneal map' routine), retinal OCT and USP. CCT measurements were compared using repeated-measures analysis of variance, Bonferroni test, Pearson correlation and Bland-Altman plots. Repeatability of thickness maps and CCT measurements were assessed using Alpha of Cronbach, intraclass correlation coefficient (ICC) and coefficient of repeatability. RESULTS: Mean CCT±SD was 540±28.9 µm for AS-OCT, 544±29.5 µm for retinal OCT and 549.3±31.7 µm for USP; the differences were statistically significant (p<0.01). CCT measurements obtained with the three instruments were highly correlated: r was 0.965 for AS-OCT/USP, 0.962 for retinal OCT/USP and 0.984 for AS-OCT/retinal OCT comparison. The repeatability of CCT measurements was higher for AS-OCT than for the other devices (p<0.001). Repeatability of pachymetric maps was excellent (ICC=0.999). CONCLUSIONS: Pachymetric maps by swept-source AS-OCT showed excellent repeatability. CCT measurements obtained by AS-OCT, USP and retinal OCT were highly correlated although not identical.
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Córnea/anatomia & histologia , Técnicas de Diagnóstico Oftalmológico/instrumentação , Imageamento Tridimensional , Tomografia de Coerência Óptica , Córnea/diagnóstico por imagem , Humanos , Tamanho do Órgão , Valores de Referência , Reprodutibilidade dos Testes , UltrassonografiaRESUMO
PURPOSE: To describe clinical features in a large series of Möbius syndrome (MBS) cases, investigating whether specific neuro-ophthalmologic patterns of disease may provide further insight into MBS pathogenesis. DESIGN: Observational, prospective study. PARTICIPANTS: Fifty-five affected subjects. METHODS: To make an MBS diagnosis, the criteria recommended in the First Scientific Conference on Möbius Syndrome were followed. Patients who did not meet the minimal criteria were classified as Möbius-like cases and were considered separately. Complete ophthalmologic evaluation, eyelid measurements, presence of abnormal tearing, and ocular motility also were assessed. MAIN OUTCOME MEASURES: Pattern of ocular motility alteration, visual function disturbances, and eyelid and tearing defect. RESULTS: Forty-six sporadic cases of true MBS were identified, with 3 specific patterns of ocular motility alterations. Pattern A, consisting of orthotopia in primary position with a complete defect in both abduction and adduction ocular movements, was found in 41% of cases. Pattern B, with large-angle esotropia, crossed fixation, and a relative sparing of convergence and adduction, was documented in 50% of cases. Pattern C, characterized by a large-angle exotropia in primary position with torticollis, absence of convergence, and vertical eye misalignment, was present in the minority of the patients (9%). Bilateral complete facial nerve palsy with lagophthalmos was present in 83% of patients; lacrimation showed abnormalities in 33% of cases. Visual acuity was good or impaired only moderately in all tested patients. Binocular function was testable in 31 of 46 patients, and all of them showed a complete absence of stereopsis with suppressive scotoma. CONCLUSIONS: Based on the observed 3 different ocular motility defect patterns, the most compatible site and extension of the brainstem damage was inferred. Each pattern may reflect a different type of injury likely occurred during embryogenesis. The comparison of the characteristics of this series with those reported in different geographic areas supports the evidence that MBS does not differ phenotypically worldwide. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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Doenças Palpebrais/diagnóstico , Doenças do Aparelho Lacrimal/diagnóstico , Síndrome de Möbius/diagnóstico , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Visão/diagnóstico , Doenças do Nervo Abducente/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Técnicas de Diagnóstico Oftalmológico , Eletrofisiologia , Paralisia Facial/diagnóstico , Feminino , Seguimentos , Humanos , Deficiência Intelectual/diagnóstico , Itália , Cariotipagem , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Refração Ocular/fisiologia , Acuidade Visual/fisiologiaRESUMO
PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. METHODS: DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1. All patients studied showed a variable degree of skin and hair hypopigmentation. Eighteen patients with distinct mutations in each gene associated with OCA were evaluated by detailed ophthalmic analysis, optical coherence tomography (OCT), and fundus autofluorescence. RESULTS: Disease-causing mutations were identified in more than 95% of analyzed patients with OCA (28/45 [62.2%] cases with two or more mutations; 15/45 [33.3%] cases with one mutation). Thirty-five different mutant alleles were identified of which 15 were novel. Mutations in TYR were the most frequent (73.3%), whereas mutations in P occurred more rarely (13.3%) than previously reported. Novel mutations were also identified in rare loci such as TYRP1 and MATP. Mutations in the OA1 gene were not detected. Clinical assessment revealed that patients with iris and macular pigmentation had significantly higher visual acuity than did severe hypopigmented phenotypes. CONCLUSIONS: TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency than that found in other populations. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation.
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Albinismo Oculocutâneo/genética , Antígenos de Neoplasias/genética , Proteínas do Olho/genética , Glicoproteínas de Membrana/genética , Proteínas de Membrana Transportadoras/genética , Monofenol Mono-Oxigenase/genética , Mutação , Oxirredutases/genética , Adolescente , Adulto , Albinismo Oculocutâneo/diagnóstico , Alelos , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Angiofluoresceinografia , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Tomografia de Coerência Óptica , Adulto JovemRESUMO
BACKGROUND AND AIM OF THE WORK: retinal thickness values obtained by automated analysis with new spectral-domain optical coherence tomography (OCT) devices exceed those measured by old time-domain OCTs. Aim of the present work is to assess reproducibility and comparability of manual measurements performed on both time-domain and spectral-domain OCT scans. METHODS: 6 eyes were scanned using Stratus OCT3 and Cirrus hd-OCT. Raw exported images were analyzed by ordinary computer software; multiple manual measurements of retinal thickness were taken at different eccentricities. Stratus Retinal Thickness (SRT) was measured from Internal Limiting Membrane (ILM) to the photoreceptors Internal-Outer Segment interface (IS/OS), while two series of measurements were performed in Cirrus images: CRT = Cirrus-RT (from ILM to the Retinal Pigment Epitelium, RPE) and cCRT = corrected-CRT (from ILM to IS/OS). Measurements were repeated twice in two eyes and reproducibility was assessed by Intra-Class correlation (ICC) and Coefficient of Variation (CV). Bland-Altman plots, paired t-test and ICC were used for comparative analysis between Stratus and Cirrus measurements. RESULTS: Mean SRT, CRT and cCRT values +/- SD were respectively 244.75 +/- 34.78 microm, 275.78 +/- 34.36 microm and 244.95 +/- 33.78 microm. Paired t-test resulted in p<0.0001 comparing SRT and CRT series, versus p=0.6544 between SRT and cCRT series. ICC was 0.65 between SRT and CRT and 0,94 between SRT-cCRT. Reproducibility of the measurements was excellent (CV=2,13% for Stratus and 1,62% for Cirrus; ICC=0,994 for both devices). DISCUSSION: while a systematic error affects comparison of Stratus and Cirrus macular thickness maps, manual linear measurements result interchangeable, hence allowing comparison of images acquired with either OCT systems. (www.actabiomedica.it).