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AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.
Assuntos
Aniridia , Opacidade da Córnea , Gêmeos Monozigóticos , Síndrome WAGR , Tumor de Wilms , Humanos , Feminino , Gêmeos Monozigóticos/genética , Síndrome WAGR/genética , Aniridia/genética , Aniridia/complicações , Tumor de Wilms/genética , Tumor de Wilms/complicações , Lactente , Opacidade da Córnea/genética , Segmento Anterior do Olho/anormalidades , Segmento Anterior do Olho/diagnóstico por imagem , Anormalidades do Olho/genética , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/complicações , Doenças em Gêmeos/genética , Neoplasias Renais/genética , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/complicaçõesRESUMO
INTRODUCTION: Bilateral acute iris transillumination (BAIT) is a relatively new syndrome whose etiopathogenesis is still not fully understood. It is characterized by acute bilateral onset of intense pigment dispersion in the anterior chamber, iris depigmentation with severe transillumination defects, accentuated pigment deposition in the angle, and elevated intraocular pressure (IOP). In literature, the first case was of bilateral acute iris depigmentation (BADI) reported in 2004 in a 77-year-old woman. In 2019, Perone et al. published a review about BAIT syndrome. They reported a total of 79 cases have been published up that date, mainly in Europe and especially in Turkey and Belgium. The majority of reported cases were of bilateral acute iris depigmentation (BADI). BAIT syndrome might be mainly confused with acute iridocyclitis, acute primary angle-closure (APAC) and pigment dispersion syndrome (PDS). In relation to BAIT, controversies still exist regarding the etiology being the differential diagnosis of paramount importance for adequate treatment. PURPOSE: To report a case of BAIT syndrome associated to refractory glaucoma and to discuss the differential diagnosis based on clinical, OCT and UBM findings. METHODS: We present a case of BAIT syndrome in which clinical, OCT and UBM findings have pointed out the similarities and, mainly the diagnosis differences with other ocular diseases. CONCLUSIONS: BAIT syndrome with accentuated IOP rise must be differentiated of other ocular diseases. It requires urgent clinical therapy and/or surgical management as occurred in the present case for avoiding structural damage in OCT and visual field loss. OCT and UBM are critical for early recognition, differential diagnosis and management.
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Doenças da Íris , Tomografia de Coerência Óptica , Feminino , Humanos , Idoso , Diagnóstico Diferencial , Transiluminação , Iris/patologia , Doenças da Íris/diagnósticoRESUMO
BACKGROUND: Traboulsi syndrome is a rare disease clinically characterized by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis (EL) and multiple anterior segment abnormalities. MATERIAL AND METHODS: An 18-year-old female was referred to the Emergency Service of Hospital São Geraldo (HSG) claiming decreased right eye (RE) visual acuity associated with ocular pain that was noticed approximately 2 months earlier. She underwent a complete ophthalmic and physical examination including hands, ankle, wrist and chest X-ray, abdominal ultrasound, echocardiogram and genetic analysis (whole-exome sequencing). RESULTS: The ophthalmic examination revealed a high myopia with spherical equivalent of - 9.50 D and best corrected visual acuity (BCVA) of 20/60 in RE and - 9.25 D with BCVA of 20/30 in the left eye (LE). Slit-lamp examination showed normal conjunctiva in both eyes (BE) and a superior-temporal cystic lesion in RE and nasal in LE; the flat anterior chamber in BE with the transparent crystalline lens touches the central corneal endothelium in the RE. Fundoscopy suggested glaucoma as the cup/disc ratio was 0.7, although the intraocular pressure (IOP) was 10 mmHg in BE without medication. Validation of data from whole exome demonstrated a novel splicing homozygous pathogenic variant (PV) (c.1765-1G>A) of the ASPH gene as well as a heterozygous variant of unknown significance (VUS) of the FBN1 gene (c.6832C>T). CONCLUSION: We here report a novel splice-affecting homozygous pathogenic variant in the ASPH gene that was detected in a Brazilian patient with clinical features of Traboulsi syndrome.
Assuntos
Anormalidades Craniofaciais , Ectopia do Cristalino , Anormalidades do Olho , Fibrilina-1 , Iris , Humanos , Feminino , Adolescente , Ectopia do Cristalino/genética , Anormalidades Craniofaciais/genética , Iris/patologia , Anormalidades do Olho/genética , Doenças Raras , Fibrilina-1/genética , Síndrome de Marfan , Sítios de Splice de RNA , Linhagem , Consanguinidade , MasculinoRESUMO
AIM: To assess intraocular pressure (IOP) during the daily curve of intraocular pressure (DCPo) in keratoconic eyes and compare Goldmann applanation tonometer (GAT), without and with astigmatism correction (nGAT and cGAT) and Tono-Pen AVIA (TPA) assessment methods. METHODS: Thirty-nine keratoconic eyes of 24 patients were assessed. DCPo was evaluated with five IOP measurements; four were performed with a GAT (nGAT and cGAT), and a Tono-Pen AVIA (TPA) at various times throughout the day. RESULTS: Mean IOP DCPo values (mm Hg) were: nGAT, 9.9±2.6; cGAT, 11.3±2.6; TPA 12.3±3.1. Mean IOP DCPo differences (mm Hg) and Spearman's correlation coefficients were as follows: cGATc-nGAT, 1.32±1.31, r s=0.879 (P<0.01); cGAT-TPA, -1.02±2.08, r s=0.723 (P<0.01); and nGAT-TPA, -2.35±2.23, r s=0.730 (P<0.01). Bland-Altman analysis for agreement between cGAT-TPA and nGAT-TPA mean IOP DCPo measurements revealed a mean difference of 1.02 (95%CI, 0.35-1.70) and 2.35 (95%CI, 1.62-3.07) mm Hg, respectively. Regression analysis yielded the following equation: TPA IOP=5.49+0.775×cGAT-0.015×ACD-0.299×corneal astig matism, which allowed us to infer TPA IOP values from other parameters. CONCLUSION: In keratoconic eyes, IOP peaks of DCPo measurements are identified at 6 a.m., independent of the tonometer. The mean DCPo values are: TPA>cGAT>nGAT. IOP TPA measures are predictive of cGAT values, adjusted according to anterior chamber depth and corneal astigmatism.
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RESUMO O glaucoma é considerado a maior causa de cegueira irreversível no mundo, e o aumento da pressão intraocular constitui seu principal fator de risco. Usualmente, a terapia inicial do glaucoma consiste na redução da pressão intraocular a partir da instilação de drogas hipotensoras tópicas, estando as cirurgias antiglaucomatosas reservadas, na maioria das vezes, para casos em que o controle da doença não é atingido clinicamente. Classicamente, o tratamento cirúrgico do glaucoma é realizado a partir dos procedimentos filtrantes: trabeculectomia e implante de dispositivos de drenagem. O acrônimo MIGS (do inglês minimally invasive glaucoma surgery, procedimentos minimamente invasivos para glaucoma) corresponde a um grupo de procedimentos cirúrgicos pouco invasivos, que propõem a redução pressórica de maneira mais segura e previsível, quando comparada às técnicas cirúrgicas antiglaucomatosas convencionais.
ABSTRACT Glaucoma is considered the biggest cause of irreversible blindness in the world and the increase in intraocular pressure is its main risk factor. Usually, the initial therapy for glaucoma consists of reducing IOP through the instillation of topical hypotensive drugs, with antiglaucoma surgeries being normally reserved for cases in which disease control is not clinically achieved. Classically, the surgical treatment of glaucoma is performed using filtering procedures: trabeculectomy; non-penetrating sclerotomy and glaucoma drainage devices. The acronym MIGS (Minimally Invasive Glaucoma Surgery) corresponds to a group of minimally invasive surgical procedures that provide a safer and more predictable pressure reduction when compared to conventional antiglaucoma surgical techniques.
Assuntos
Humanos , Glaucoma/cirurgia , Glaucoma de Ângulo Aberto/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Malha Trabecular/cirurgia , Trabeculectomia , Stents , Cirurgia Filtrante , Implantação de Prótese , Implantes para Drenagem de Glaucoma , Injeções Intraoculares , Géis , Gonioscopia , Pressão IntraocularRESUMO
ABSTRACT Purpose: To use machine learning to predict the risk of intraocular pressure peaks at 6 a.m. in primary open-angle glaucoma patients and suspects. Methods: This cross-sectional observational study included 98 eyes of 98 patients who underwent a 24-hour intraocular pressure curve (including the intraocular pressure measurements at 6 a.m.). The diurnal intraocular pressure curve was defined as a series of three measurements at 8 a.m., 9 a.m., and 11 a.m. from the 24-hour intraocular pressure curve. Two new variables were introduced: slope and concavity. The slope of the curve was calculated as the difference between intraocular pressure measurements at 9 a.m. and 8 a.m. and reflected the intraocular pressure change in the first hour. The concavity of the curve was calculated as the difference between the slopes at 9 a.m. and 8 a.m. and indicated if the curve was bent upward or downward. A classification tree was used to determine a multivariate algorithm from the measurements of the diurnal intraocular pressure curve to predict the risk of elevated intraocular pressure at 6 a.m. Results: Forty-nine (50%) eyes had intraocular pressure measurements at 6 a.m. >21 mmHg, and the median intraocular pressure peak in these eyes at 6 a.m. was 26 mmHg. The best predictors of intraocular pressure measurements >21 mmHg at 6 a.m. were the intraocular pressure measurements at 8 a.m. and concavity. The proposed model achieved a sensitivity of 100% and a specificity of 86%, resulting in an accuracy of 93%. Conclusions: The machine learning approach was able to predict the risk of intraocular pressure peaks at 6 a.m. with good accuracy. This new approach to the diurnal intraocular pressure curve may become a widely used tool in daily practice and the indication of a 24-hour intraocular pressure curve could be rationalized according to risk stratification.
RESUMO Objetivo: Utilizar aprendizado de máquina para predizer o risco de picos de pressão intraocular às 6 AM em pacientes com glaucoma primário de ângulo aberto e suspeitos. Métodos: Esse estudo observacional transversal incluiu 98 olhos de 98 pacientes submetidos à curva de 24 horas de pressão intraocular (incluindo as medidas às 6 AM). A curva diurna de pressão intraocular foi definida como uma série de três medidas da curva de 24 horas de pressão intraocular às 8 AM, às 9 AM e às 11 AM. Duas novas variáveis foram apresentadas: inclinação e concavidade. A inclinação da curva às 8 AM foi calculada como a diferença entre pressão intraocular às 9 AM e 8 AM e reflete a variação da pressão intraocular na primeira hora. A concavidade da curva foi calculada como a diferença entre as inclinações às 9 AM e às 8 AM e pode ser para cima ou para baixo. Uma árvore de classificação foi usada para determinar um algoritmo multivariado a partir das medidas da curva diurna para prever o risco de pressão intraocular elevada às 6 AM. Resultados: Quarenta e nove (50%) olhos apresentaram pressão intraocular às 6 AM >21 mmHg e a mediana do pico de pressão intraocularPIO foi 26 mmHg. Os melhores preditores de pressão intraocular às 6 AM >21 mmHg foram a pressão intraocular às 8 AM e a concavidade. O modelo proposto apresentou uma sensibilidade de 100% e uma especificidade de 86%, com uma acurácia de 93%. Conclusões: A abordagem de aprendizado de máquina foi capaz de prever o risco de picos de pressão intraocular às 6 AM com uma boa acurácia. Essa nova abordagem para a curva diurna de pressão intraocular pode se tornar uma ferramenta amplamente utilizada na prática clínica e a indicação da curva de 24 horas de pressão intraocular pode ser racionalizada de acordo com a estratificação de risco.
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PURPOSE: To use machine learning to predict the risk of intraocular pressure peaks at 6 a.m. in primary open-angle glaucoma patients and suspects. METHODS: This cross-sectional observational study included 98 eyes of 98 patients who underwent a 24-hour intraocular pressure curve (including the intraocular pressure measurements at 6 a.m.). The diurnal intraocular pressure curve was defined as a series of three measurements at 8 a.m., 9 a.m., and 11 a.m. from the 24-hour intraocular pressure curve. Two new variables were introduced: slope and concavity. The slope of the curve was calculated as the difference between intraocular pressure measurements at 9 a.m. and 8 a.m. and reflected the intraocular pressure change in the first hour. The concavity of the curve was calculated as the difference between the slopes at 9 a.m. and 8 a.m. and indicated if the curve was bent upward or downward. A classification tree was used to determine a multivariate algorithm from the measurements of the diurnal intraocular pressure curve to predict the risk of elevated intraocular pressure at 6 a.m. RESULTS: Forty-nine (50%) eyes had intraocular pressure measurements at 6 a.m. >21 mmHg, and the median intraocular pressure peak in these eyes at 6 a.m. was 26 mmHg. The best predictors of intraocular pressure measurements >21 mmHg at 6 a.m. were the intraocular pressure measurements at 8 a.m. and concavity. The proposed model achieved a sensitivity of 100% and a specificity of 86%, resulting in an accuracy of 93%. CONCLUSIONS: The machine learning approach was able to predict the risk of intraocular pressure peaks at 6 a.m. with good accuracy. This new approach to the diurnal intraocular pressure curve may become a widely used tool in daily practice and the indication of a 24-hour intraocular pressure curve could be rationalized according to risk stratification.
Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Estudos Transversais , Glaucoma/diagnóstico , Glaucoma de Ângulo Aberto/diagnóstico , Humanos , Pressão Intraocular , Aprendizado de MáquinaRESUMO
The COVID-19 pandemic has had an unprecedented impact on ophthalmology. This review compiles general aspects of the novel coronavirus and COVID-19, further dissects the most recent data on the role of the eye regarding disease transmission and manifestations, and summarizes preventive measures in the particular context of eye care.
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COVID-19/epidemiologia , Oftalmologistas , SARS-CoV-2 , COVID-19/diagnóstico , COVID-19/terapia , COVID-19/virologia , Educação Médica Continuada , Infecções Oculares Virais/diagnóstico , Infecções Oculares Virais/epidemiologia , Infecções Oculares Virais/terapia , Infecções Oculares Virais/virologia , Humanos , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Pneumonia Viral/terapia , Pneumonia Viral/virologia , Infecções Respiratórias/diagnóstico , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/terapia , Infecções Respiratórias/virologiaRESUMO
ABSTRACT Glaucoma is the leading cause of irreversible blindness worldwide and can affect a broad array of daily activities, including driving. Recently, studies investigating the relationship between driving performance and glaucoma have received a great deal of interest. Assessment of driving behavior is not straightforward because driving is a complex skill involving significant multi-tasking ability. In this review, we summarize recent work from clinical studies investigating how glaucoma can affect driving performance. Patients with glaucoma are more likely to be involved in motor vehicle collisions when compared to healthy subjects. Here we describe how conventional functional tests performed in glaucoma patients, such as visual field measurements via standard automatic perimetry, are associated with driving performance. However, the risk of motor vehicle collisions is not entirely attributable to visual field impairment in glaucoma, suggesting that other factors also account for both driving safety and performance. Finally, we show different studies suggesting that parameters from driving simulators can be helpful because they can identify the impact of visual loss on complex situations.
RESUMO O glaucoma é a principal causa de cegueira irreversível em todo o mundo e pode afetar uma ampla gama de atividades diárias, incluindo a direção veicular. Recentemente, estudos que investigam a relação entre o desempenho na condução veicular e o glaucoma têm recebido grande interesse. A avaliação do comportamento de dirigir não é direta porque dirigir é uma habilidade complexa que envolve habilidade multitarefa significativa. Nesta revisão, resumimos trabalhos recentes de estudos clínicos que investigam como o glaucoma pode afetar o desempenho na direção. Pacientes com glaucoma têm maior probabilidade de se envolverem em colisões de veículos motorizados quando comparados a indivíduos saudáveis. Descrevemos aqui como os testes funcionais convencionais realizados em pacientes com glaucoma, como as medições de campo visual por meio de perimetria automática padrão, estão associados ao desempenho na direção. No entanto, o risco de colisão de veículo motorizado não é totalmente atribuível ao comprometimento do campo visual no glaucoma, sugerindo que outros fatores também são responsáveis pela segurança e pelo desempenho. Finalmente, mostramos diferentes estudos sugerindo que os parâmetros dos simuladores de direção podem ser úteis porque eles podem identificar o impacto da perda visual em situações de complexas.
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Humanos , Condução de Veículo , Glaucoma/fisiopatologia , Medição de Risco/métodos , Avaliação da Deficiência , Atenção/fisiologia , Testes Visuais/métodos , Simulação por Computador , Acidentes de Trânsito , Acuidade Visual/fisiologia , Campos Visuais/fisiologia , Fatores de RiscoRESUMO
Glaucoma is the leading cause of irreversible blindness worldwide and can affect a broad array of daily activities, including driving. Recently, studies investigating the relationship between driving performance and glaucoma have received a great deal of interest. Assessment of driving behavior is not straightforward because driving is a complex skill involving significant multi-tasking ability. In this review, we summarize recent work from clinical studies investigating how glaucoma can affect driving performance. Patients with glaucoma are more likely to be involved in motor vehicle collisions when compared to healthy subjects. Here we describe how conventional functional tests performed in glaucoma patients, such as visual field measurements via standard automatic perimetry, are associated with driving performance. However, the risk of motor vehicle collisions is not entirely attributable to visual field impairment in glaucoma, suggesting that other factors also account for both driving safety and performance. Finally, we show different studies suggesting that parameters from driving simulators can be helpful because they can identify the impact of visual loss on complex situations.