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The source of subretinal or intraretinal fluid in patients with optic disc pit maculopathy (ODP-M) remains unclear and is often thought to be either vitreous or cerebrospinal fluid.1 Here, we present the case of a 40-year-old man who developed ODP-M. Further imaging with wide-field swept-source optical coherence tomography demonstrated that the macular fluid was tracking from a nasal optic disc pit with superonasal communication to the vitreous. This suggests that swept-source optical coherence tomography can be a useful tool for determining the origin of macular fluid in patients with ODP-M. [Ophthalmic Surg Lasers Imaging Retina 2022;53:579-581.].
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Anormalidades do Olho , Degeneração Macular , Disco Óptico , Doenças Retinianas , Adulto , Anormalidades do Olho/diagnóstico , Humanos , Masculino , Doenças Retinianas/cirurgia , Líquido Sub-Retiniano , Tomografia de Coerência Óptica/métodos , Vitrectomia/métodosRESUMO
PURPOSE: To describe the unusual case of inflammatory CRB1-associated retinal dystrophy that initially presented with self-resolving opsoclonus. OBSERVATIONS: We report the case of a now 2-year-old female who developed opsoclonus without myoclonus at the age of 4 months. An extensive workup for neuroblastoma and other systemic diseases was unremarkable, and all unusual eye movements self-resolved at age 10 months. Twenty-one months after initial presentation, she began having reduced visual behaviors, and comprehensive ophthalmic exam at that time revealed recurrent saccadic intrusions as well as severe, chronic retinal inflammation and dystrophic changes. An extensive infectious and inflammatory workup was negative. Genetic sequencing revealed two variants in CRB1: a heterozygous missense mutation and a heterozygous novel deletion involving exon 12. The patient was treated with monthly infliximab and methylprednisolone infusions with improvement in her optic disc and macular capillary leakage. The patient's 8-month-old sister also harbored the same variants in CRB1 and had early signs of retinal dystrophy and peripheral vascular leakage on exam. CONCLUSION: Saccadic intrusions may be the first sign of a retinal dystrophy, and infants and children with this presentation should undergo a complete eye exam. We further highlight the link between CRB1-associated retinal dystrophy and inflammation, and how systemic steroids and tumor necrosis factor alpha (TNF-α) inhibitors may be effective therapies. Finally, we report a novel deletion in CRB1 that is likely highly penetrant.
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Purpose: This work evaluates trends in achievement of women in the retina field, through an analysis of gender representation in the American Society of Retina Specialists (ASRS). Methods: This retrospective, longitudinal study spans 1983 to 2020. Historical data classified by male or female gender were collected from ASRS's overall membership, board of directors and officers, and recipients of the 4 society awards. The proportion of each benchmark held by women was compared with prior decades since the founding of ASRS using the Fisher's exact test. Results: Women's representation increased from 11% of ASRS members in 2007 to 19.7% in 2020. From 2010 to 2019, women received a higher proportion of society awards (21.1%) compared with membership prior to the start of that decade. In 2020, women were proportionally well represented in board of director positions (21.9%) and held a significantly higher proportion of board positions than in the period 1983 to 1989 (P = .02). From 1983 to 2020, women held 4.3% (1 of 23) of presidencies. Conclusions: Although the number of women in retina is increasing, women remain underrepresented in the leadership of ASRS. Interventions to increase exposure to female mentorship and improve childcare benefits are warranted to engage female ophthalmology trainees in retina and ultimately society leadership.
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Purpose: This work aims to assess the quality, accountability, readability, accessibility, and presence of Spanish translation in online material through a Google search of "macular degeneration". Methods: In this retrospective cross-sectional analysis of website results from a Google search of "macular degeneration", the quality and accountability for each website were assessed using the DISCERN criteria and the Health on the Net Foundation Code of Conduct (HONcode) principles. All 31 sites were independently graded by 2 ophthalmologists. Readability was evaluated using an online tool. The presence of accessibility features on the website and Spanish translation was recorded. The primary outcome measure was the DISCERN and HONcode quality and accountability scores of each website. Secondary outcome measures included the readability, accessibility, and presence of Spanish translation. Results: The mean ± SD of each criterion across all 15 DISCERN questions was 2.761 ± 0.666 (out of 5). The mean HONcode score for all websites was 7.355 ± 3.123. The mean consensus reading grade level was 10.258 ± 2.49. There were no statistically significant differences in any score between the top 5 websites and the bottom 26 websites evaluated. Accessibility was available on 10 of 31 websites. Spanish translation was available on 10 of 31 websites. Conclusions: The top 5 websites that appeared on a Google search did not have better quality or readability of online content. Improving quality, accountability, and readability can help improve patients' health literacy regarding macular degeneration.
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PURPOSE: To determine the incidence of ocular adverse effects (AEs) following brolucizumab injection for neovascular age-related macular degeneration at a tertiary academic institution. DESIGN: Retrospective, single center cohort study. PARTICIPANTS: All patients who received an intravitreal injection of brolucizumab 6â mg for neovascular age-related macular degeneration between October 7, 2019 and July 31, 2020. METHODS: Medical records of all patients who received brolucizumab 6â mg during the aforementioned time period were carefully reviewed and all ocular adverse effects after injection were charted. MAIN OUTCOME MEASURES: Incidence of post-injection ocular AEs, including intraocular inflammation (IOI), and time to development of AEs after injection. RESULTS: A total of 77 patients received brolucizumab 6â mg for a total of 115 administrations during the study period. There were 4 AEs (3.5%), including three cases of IOI (2.6%), one central retinal artery occlusion, and one retinal detachment. Two men and two women were affected. CONCLUSION: Ocular AEs, including those leading to severe vision loss, may develop after intravitreal brolucizumab 6â mg. A careful discussion of benefits and risks to brolucizumab should be conducted with all patients. PRECIS: In this first case series of ocular adverse effects after brolucizumab 6â mg injection at a single tertiary care center, the incidence of ocular adverse effects was 3.5%, including a 2.6% incidence of intraocular inflammation.
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Degeneração Macular , Uveíte , Inibidores da Angiogênese/efeitos adversos , Anticorpos Monoclonais Humanizados , Estudos de Coortes , Feminino , Humanos , Inflamação , Injeções Intravítreas , Degeneração Macular/tratamento farmacológico , Masculino , Estudos Retrospectivos , Centros de Atenção Terciária , Uveíte/tratamento farmacológico , Acuidade VisualRESUMO
PURPOSE: To reduce the total clinic visit duration among retina providers in an academic ophthalmology department. METHODS: All patient encounters across all providers in the department were analyzed to determine baseline clinic visit duration time, defined as the elapsed time between appointment time and checkout. To increase photography capacity, a major bottleneck identified through root cause analysis, four interventions were implemented: training ophthalmic technicians to perform fundus photography in addition to optical coherence tomographies, relocating photography equipment to be adjacent to examination rooms, procuring three additional Optos widefield retinal photography units, and shifting staff schedules to better align with that of the providers. These interventions were implemented in the clinics of two retina providers. RESULTS: The average baseline visit duration for all patients across all providers was 87 minutes (19,550 patient visits). The previous average visit duration was 80 minutes for Provider 1 (557 patient visits) and 81 minutes for Provider 2 (1,246 patient visits). In the 4 weeks after interventions were implemented, the average visit duration decreased to 60 minutes for Provider 1 and 57 minutes for Provider 2. CONCLUSION: A systematic approach and a multidisciplinary team resulted in targeted, cost-effective interventions that reduced total visit durations.
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Agendamento de Consultas , Eficiência Organizacional/estatística & dados numéricos , Visita a Consultório Médico/estatística & dados numéricos , Oftalmologia/estatística & dados numéricos , Prática Profissional/estatística & dados numéricos , Retina , Centros Médicos Acadêmicos , Análise Custo-Benefício , Feminino , Humanos , Masculino , Oftalmologia/economia , Satisfação do Paciente , Fatores de Tempo , Gestão da Qualidade Total , Fluxo de TrabalhoRESUMO
OBJECTIVE: To elucidate molecular risk factors for posterior segment uveitis using a functional genomics approach. DESIGN: Genetic association cohort study. METHODS: Setting: Single-center study at an academic referral center. STUDY POPULATION: 164 patients with clinically diagnosed uveitis of the posterior segment. MAIN OUTCOME MEASURES: Exome sequencing was used to detect variants identified in 164 patients with posterior segment uveitis. A phenotype-driven analysis, protein structural modeling, and in silico calculations were then used to rank and predict the functional consequences of key variants. RESULTS: A total of 203 single nucleotide variants, in 23 genes across 164 patients, were included in this study. Both known and novel variants were identified in genes previously implicated in specific types of syndromic uveitis-such as NOD2 (Blau syndrome) and CAPN5 NIV (neovascular inflammatory vitreoretinopathy)-as well as variants in genes not previously linked to posterior segment uveitis. Based on a ranked list and protein-protein-interaction network, missense variants in NOD-like receptor family genes (NOD2, NLRC4, NLRP3, and NLRP1), CAPN5, and TYK2 were characterized via structural modeling and in silico calculations to predict how specific variants might alter protein structure and function. The majority of analyzed variants were notably different from wild type. CONCLUSIONS: This study implicates new pathways and immune signaling proteins that may be associated with posterior segment uveitis susceptibility. A larger cohort and functional studies will help validate the pathogenicity of the mutations identified. In specific cases, whole-exome sequencing can help diagnose nonsyndromic uveitis in patients harboring known variants for syndromic inflammatory diseases.
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Calpaína/genética , Sequenciamento do Exoma , Proteínas NLR/genética , TYK2 Quinase/genética , Uveíte Posterior/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética , Humanos , Inflamassomos/metabolismo , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Proteômica , Uveíte Posterior/metabolismoAssuntos
Câmara Anterior , Implantes de Medicamento/efeitos adversos , Fluocinolona Acetonida/efeitos adversos , Migração de Corpo Estranho/diagnóstico , Adulto , Remoção de Dispositivo/métodos , Fluocinolona Acetonida/administração & dosagem , Migração de Corpo Estranho/etiologia , Migração de Corpo Estranho/cirurgia , Glucocorticoides/administração & dosagem , Glucocorticoides/efeitos adversos , Humanos , Injeções Intravítreas/efeitos adversos , MasculinoAssuntos
Astrocitoma/tratamento farmacológico , Benzimidazóis/efeitos adversos , Neoplasias Encefálicas/tratamento farmacológico , Carbamatos/efeitos adversos , Doenças Retinianas/induzido quimicamente , Líquido Sub-Retiniano/efeitos dos fármacos , Sulfonamidas/efeitos adversos , Antineoplásicos , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Feminino , Humanos , MAP Quinase Quinase Quinase 1/antagonistas & inibidores , MAP Quinase Quinase Quinase 2/antagonistas & inibidores , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas B-raf/antagonistas & inibidores , Doenças Retinianas/metabolismo , Líquido Sub-Retiniano/metabolismoRESUMO
PURPOSE: Patients increasingly use the internet to access health-related information to better understand their treatments. This study compares the quality, accountability, readability, accessibility, and presence of translation between private and academic online source material available to the public regarding intravitreal injections (IVIs). DESIGN: Cross-sectional analysis. PARTICIPANTS: Top 20 websites on a Google search for the terms eye injections, intravitreal injections, and anti-VEGF injections. METHODS: Websites were classified as private or academic. Quality and accountability were assessed using the internationally recognized DISCERN criteria and the Health on the Net Code of Conduct (HONcode). Readability was evaluated using an online tool that provides a consensus readability grade. The presence of and languages available for translation were recorded. MAIN OUTCOME MEASURES: The primary outcome measure was a comparison of the DISCERN and HONcode quality and accountability scores between academic and private websites. Secondary outcome measures included evaluating readability, accessibility, and presence of translation (in particular, Spanish). RESULTS: Eleven academic and 9 private websites were included. The overall mean score using DISCERN criteria for the academic websites (3.11 ± 0.46) was significantly higher than that of private websites (2.23 ± 0.61; P < 0.007). Similarly, of a possible total of 14 points for the HONcode, the average quality score for academic websites (10.91 ± 2.66) was higher compared with that for private websites (6.44 ± 3.36; P < 0.009). The mean consensus reading grade level was similar between academic (11.73 ± 1.68) and private (11.78 ± 1.48) websites (P = 0.94). Spanish translation was offered by only 7 of the 20 websites (5 academic and 2 private websites). CONCLUSIONS: The overall quality and accountability of online content for academic sites was significantly higher compared with that of private websites. Translation was rarely provided, and the readability grade level was significantly higher for both groups than recommended. Improving the quality, accountability, readability, and accessibility and incorporating translation in websites can help to improve patients' health literacy regarding IVIs, potentially leading to increased adherence to therapy plans and improved treatment outcomes.
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Compreensão/fisiologia , Internet , Injeções Intravítreas/métodos , Doenças Retinianas/tratamento farmacológico , Responsabilidade Social , Estudos Transversais , Humanos , Leitura , Reprodutibilidade dos TestesAssuntos
Descolamento Retiniano/etiologia , Síndrome Uveomeningoencefálica/complicações , Administração Oral , Cegueira/diagnóstico , Glucocorticoides/uso terapêutico , Cefaleia/diagnóstico , Humanos , Infusões Intravenosas , Masculino , Metilprednisolona/uso terapêutico , Prednisona/uso terapêutico , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/tratamento farmacológico , Líquido Sub-Retiniano , Tomografia de Coerência Óptica , Síndrome Uveomeningoencefálica/diagnóstico por imagem , Síndrome Uveomeningoencefálica/tratamento farmacológico , Acuidade Visual , Adulto JovemRESUMO
PURPOSE: To profile vitreous protein expression of intermediate uveitis (IU) patients. OBSERVATIONS: We identified a mean of 363 ± 41 unique proteins (mean ± SD) in IU vitreous and 393 ± 69 unique proteins in control samples using liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis of liquid vitreous biopsies collected during pars plana vitrectomy. A total of 233 proteins were differentially expressed among control and IU samples, suggesting a protein signature that could distinguish the two groups. Pathway analysis identified 22 inflammatory mediators of the interleukin-12 (IL-12) signaling pathway in IU vitreous. Upstream regulator analysis identified downstream mediators of IL-23 and myeloid differentiation primary response protein (MYD88), both of which are involved in the recruitment and differentiation of myeloid cells. Taken together, our results suggest the recruitment of myeloid cells as an upstream pathway in the pathogenesis of IU. CONCLUSIONS: This study provides insights into proteins that will serve as biomarkers and therapeutic targets for IU. These biomarkers will help design future clinical trials using rational molecular therapeutics.
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CAPN5 Neovascular Inflammatory Vitreoretinopathy (CAPN5-NIV; OMIM 193235) is a poorly-understood rare, progressive inflammatory intraocular disease with limited therapeutic options. To profile disease effector proteins in CAPN5-NIV patient vitreous, liquid vitreous biopsies were collected from two groups: eyes from control subjects (n = 4) with idiopathic macular holes (IMH) and eyes from test subjects (n = 12) with different stages of CAPN5-NIV. Samples were analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). Protein expression changes were evaluated by principal component analysis, 1-way ANOVA (significant p-value < 0.05), hierarchical clustering, gene ontology, and pathway representation. There were 216 differentially-expressed proteins (between CAPN5-NIV and control vitreous), including those unique to and abundant in each clinical stage. Gene ontology analysis revealed decreased synaptic signaling proteins in CAPN5-NIV vitreous compared to controls. Pathway analysis revealed that inflammatory mediators of the acute phase response and the complement cascade were highly-represented. The CAPN5-NIV vitreous proteome displayed characteristic enrichment of proteins and pathways previously-associated with non-infectious posterior uveitis, rhegmatogenous retinal detachment (RRD), age-related macular degeneration (AMD), proliferative diabetic retinopathy (PDR), and proliferative vitreoretinopathy (PVR). This study expands our knowledge of affected molecular pathways in CAPN5-NIV using unbiased, shotgun proteomic analysis rather than targeted detection platforms. The high-levels and representation of acute phase response proteins suggests a functional role for the innate immune system in CAPN5-NIV pathogenesis.
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Calpaína/metabolismo , Retinopatia Diabética/metabolismo , Proteoma/metabolismo , Vitreorretinopatia Proliferativa/metabolismo , Adulto , Idoso , Cromatografia Líquida/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteômica/métodos , Degeneração Retiniana/metabolismo , Descolamento Retiniano/metabolismo , Perfurações Retinianas/metabolismo , Espectrometria de Massas em Tandem/métodos , Corpo Vítreo/metabolismoRESUMO
BACKGROUND: Estimates of an individual's cumulative ultraviolet (UV) radiation exposure can be useful since ultraviolet radiation exposure increases skin cancer risk, but a comprehensive tool that is practical for use in the clinic does not currently exist. The objective of this study is to develop a geographically-adjusted tool to systematically estimate an individual's self-reported cumulative UV radiation exposure, investigate the association of these estimates with skin cancer diagnosis, and assess test reliability. METHODS: A 12-item online questionnaire from validated survey items for UV exposure and skin cancer was administered to online volunteers across the United States and results cross-referenced with UV radiation indices. Cumulative UV exposure scores (CUES) were calculated and correlated with personal history of skin cancer in a case-control design. Reliability was assessed in a separate convenience sample. RESULTS: 1,118 responses were included in the overall sample; the mean age of respondents was 46 (standard deviation 15, range 18 - 81) and 150 (13 %) reported a history of skin cancer. In bivariate analysis of 1:2 age-matched cases (n = 149) and controls (n = 298), skin cancer cases were associated with (1) greater CUES prior to first skin cancer diagnosis than controls without skin cancer history (242,074 vs. 205,379, p = 0.003) and (2) less engagement in UV protective behaviors (p < 0.01). In a multivariate analysis of age-matched data, individuals with CUES in the lowest quartile were less likely to develop skin cancer compared to those in the highest quartile. In reliability testing among 19 volunteers, the 2-week intra-class correlation coefficient for CUES was 0.94. We have provided the programming code for this tool as well as the tool itself via open access. CONCLUSIONS: CUES is a useable and comprehensive tool to better estimate lifetime ultraviolet exposure, so that individuals with higher levels of exposure may be identified for counseling on photo-protective measures.
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Exposição à Radiação , Medição de Risco/métodos , Neoplasias Cutâneas/etiologia , Raios Ultravioleta/efeitos adversos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Reprodutibilidade dos Testes , Fatores de Risco , Neoplasias Cutâneas/epidemiologia , Inquéritos e Questionários , Estados Unidos/epidemiologia , Adulto JovemRESUMO
IMPORTANCE: Basal cell carcinomas (BCCs) in patients with Gorlin syndrome have been reported to be extremely sensitive to Smoothened (SMO) inhibitors, a novel targeted therapy against the Hedgehog pathway, because of characteristic mutations in these patients. A few cases of disease refractory to oral therapy with SMO inhibitors have been reported in patients with Gorlin syndrome and nonmetastatic BCCs, but refractory disease in distantly metastatic tumors has not been documented in this high-risk group. OBSERVATIONS: A man with Gorlin syndrome and innumerable cutaneous BCCs presented with biopsy-proven BCC in his lungs. After SMO inhibitor therapy, almost all of his cutaneous tumors shrank, but his lung metastases did not. These lung metastases remained refractory to treatment despite institution of a second SMO inhibitor. CONCLUSIONS AND RELEVANCE: We report a case of Gorlin syndrome in a patient with metastatic BCC refractory to SMO inhibitors. Furthermore, clinical responses in this patient's cutaneous tumors did not parallel the responses in the distant site. However, serial imaging after diagnosis of metastatic disease can be critical to monitor for response to therapy.