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Background: We previously developed a machine learning (ML)-assisted system for predicting the clinical activity score (CAS) in thyroid-associated orbitopathy (TAO) using digital facial images taken by a digital single-lens reflex camera in a studio setting. In this study, we aimed to apply this system to smartphones and detect active TAO (CAS ≥3) using facial images captured by smartphone cameras. We evaluated the performance of our system on various smartphone models and compared it with the performance of ophthalmologists with varying clinical experience. Methods: We applied the preexisting ML architecture to classify photos taken with smartphones (Galaxy S21 Ultra, iPhone 12 pro, iPhone 11, iPhone SE 2020, Galaxy M20, and Galaxy A21S). The performance was evaluated with smartphone-captured images from 100 patients with TAO. Three ophthalmology residents, three general ophthalmologists with <5 years of clinical experience, and three oculoplastic specialists independently interpreted the same set of images taken under a studio environment and compared their results with those generated by the smartphone-based ML-assisted system. Reference CAS was determined by a consensus of three oculoplastic specialists. Results: Active TAO (CAS ≥3) was identified in 28 patients. Smartphone model used in capturing facial images influenced active TAO detection performance (F1 score 0.59-0.72). The smartphone-based system showed 74.5% sensitivity, 84.8% specificity, and F1 score 0.70 on top three smartphones. On images from all six smartphones, average sensitivity, specificity, and F1 score were 71.4%, 81.6%, and 0.66, respectively. Ophthalmology residents' values were 69.1%, 55.1%, and 0.46. General ophthalmologists' values were 61.9%, 79.6%, and 0.55. Oculoplastic specialists' values were 73.8%, 90.7%, and 0.75. This smartphone-based ML-assisted system predicted CAS within 1 point of reference CAS in 90.7% using facial images from smartphones. Conclusions: Our smartphone-based ML-assisted system shows reasonable accuracy in detecting active TAO, comparable with oculoplastic specialists and outperforming residents and general ophthalmologists. It may enable reliable self-monitoring for disease activity, but confirmatory research is needed for clinical application.
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Oftalmopatia de Graves , Aprendizado de Máquina , Smartphone , Humanos , Oftalmopatia de Graves/diagnóstico por imagem , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Fotografação/instrumentação , Idoso , OftalmologistasRESUMO
BACKGROUND: Human papillomavirus (HPV) has been detected in eyelid sebaceous gland carcinoma (SGC) and squamous cell carcinoma (SCC), and detection rates greatly varied across studies. This study aimed to investigate the presence of HPV in eyelid SGC and SCC among Koreans and its correlation with clinicopathological characteristics. METHODS: Surgically resected eyelid samples diagnosed as SGC or SCC from January 1999 to June 2011 were identified from the pathology database of three referral centres in Korea. Clinicopathological information including origin (skin vs. tarsal conjunctiva) and treatment outcomes were retrospectively reviewed. Immunohistochemistry (IHC) for p16, HPV DNA in situ hybridisation (ISH), and polymerase chain reaction-based DNA microarray were performed in paraffin-embedded tissue sections. RESULTS: Our cohort included 34 SGC and 12 SCC cases with Asian ethnicity. HPV was detected in 4 SGC and 6 SCC by DNA microarray, while 2 SCC (16.7%) showed positivity in ISH. SCC of tarsal conjunctival origin was significantly more common in HPV-positive SCC than in HPV-negative SCC (5 of 6 vs. 0 of 6, P = 0.015, Fisher's exact test). Among samples showing positive staining in p16 IHC, HPV positivity rates were 0.0% (0/19) in SGC and 100% (3/3) in SCC. There was no significant difference in overall and local recurrence rate in eyelid SGC and SCC according to the HPV status (P > 0.99). CONCLUSIONS: HPV was found in a subset of eyelid SGC and SCC among Koreans and might be aetiologically related to SCC of tarsal conjunctival origin. Overexpression of p16 is considered to be inappropriate as an indicator of HPV infection in eyelid SGC. Further investigation is required to elucidate the transmission route and pathogenic roles of HPV.
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Adenocarcinoma Sebáceo , Carcinoma , Neoplasias Palpebrais , Infecções por Papillomavirus , Neoplasias das Glândulas Sebáceas , Neoplasias Cutâneas , Humanos , Neoplasias Palpebrais/epidemiologia , Papillomavirus Humano , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/epidemiologia , Prevalência , População do Leste Asiático , Estudos RetrospectivosRESUMO
Artificial intelligence as a screening tool for eyelid lesions will be helpful for early diagnosis of eyelid malignancies and proper decision-making. This study aimed to evaluate the performance of a deep learning model in differentiating eyelid lesions using clinical eyelid photographs in comparison with human ophthalmologists. We included 4954 photographs from 928 patients in this retrospective cross-sectional study. Images were classified into three categories: malignant lesion, benign lesion, and no lesion. Two pre-trained convolutional neural network (CNN) models, DenseNet-161 and EfficientNetV2-M architectures, were fine-tuned to classify images into three or two (malignant versus benign) categories. For a ternary classification, the mean diagnostic accuracies of the CNNs were 82.1% and 83.0% using DenseNet-161 and EfficientNetV2-M, respectively, which were inferior to those of the nine clinicians (87.0-89.5%). For the binary classification, the mean accuracies were 87.5% and 92.5% using DenseNet-161 and EfficientNetV2-M models, which was similar to that of the clinicians (85.8-90.0%). The mean AUC of the two CNN models was 0.908 and 0.950, respectively. Gradient-weighted class activation map successfully highlighted the eyelid tumors on clinical photographs. Deep learning models showed a promising performance in discriminating malignant versus benign eyelid lesions on clinical photographs, reaching the level of human observers.
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Aprendizado Profundo , Humanos , Inteligência Artificial , Estudos Retrospectivos , Estudos Transversais , PálpebrasRESUMO
The aim of this study is to characterize the microRNA (miRNA) expression signatures in patients with thyroid eye disease (TED) and identify miRNA biomarkers of disease activity. Total RNA was isolated from the sera of patients with TED (n = 10) and healthy controls (HCs, n = 5) using the miRNeasy Serum/Plasma Kit. The NanoString assay was used for the comprehensive analysis of 798 miRNA expression profiles. Analysis of specific miRNA signatures, mRNA target pathway analysis, and network analysis were performed. Patients with TED were divided into two groups according to disease activity: active and inactive TED groups. Differentially expressed circulating miRNAs were identified and tested using quantitative reverse transcription-polymerase chain reaction (qRT-PCR) tests in the validation cohort. Among the 798 miRNAs analyzed, 173 differentially downregulated miRNAs were identified in TED patients compared to those in the HCs. Ten circulating miRNAs were differentially expressed between the active and inactive TED groups and regarded as candidate biomarkers for TED activity (one upregulated miRNA: miR-29c-3p; nine downregulated miRNAs: miR-4286, miR-941, miR-571, miR-129-2-3p, miR-484, miR-192-5p, miR-502-3p, miR-597-5p, and miR-296-3p). In the validation cohort, miR-484 and miR-192-5p showed significantly lower expression in the active TED group than in the inactive TED group. In conclusion, the expression levels of miR-484 and miR-192-5p differed significantly between the active and inactive TED groups, suggesting that these miRNAs could serve as circulating biomarkers of TED activity, however, these findings need to be validated in further studies.
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MicroRNA Circulante , Oftalmopatia de Graves , MicroRNAs , Humanos , MicroRNAs/genética , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/genética , Perfilação da Expressão Gênica , BiomarcadoresRESUMO
OBJECTIVE: To compare the risk of blindness and vision-threatening ocular comorbidities in patients with Behçet's disease (BD) vs the general population. METHODS: Using 2002-2017 Korea National Health Insurance Service database, we did a population-based cohort study comparing newly diagnosed BD patients and age- and sex-matched non-BD controls at a 1:5 ratio. The primary outcome was blindness, defined as a best-corrected visual acuity of ≤20/500 in the better-seeing eye. Secondary outcomes were vision-threatening ocular comorbidities (cataract, glaucoma and retinal disorders) that require surgical interventions and incident uveitis. Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% CIs. We performed subgroup analyses by sex and BD diagnosis age. RESULTS: We included 31 228 BD patients and 156 140 controls. During a follow-up of 9.39 years, the incidence rate of blindness per 1000 person-years was 0.24 in BD and 0.02 in controls with an HR of 10.73 (95% CI 7.10, 16.22). The HR for secondary outcomes was 2.06 (95% CI 1.98, 2.15) for cataract surgery, 5.43 (4.57, 6.45) for glaucoma surgery and 2.71 (2.39, 3.07) for retinal surgery. The HR of incident uveitis was 6.19 (95% CI 5.83, 6.58). Males suffered a disproportionately higher risk of blindness than females due to greater severity rather than a lower incidence of uveitis. The risk of uveitis and blindness decreased as BD diagnosis age increased. CONCLUSIONS: In this large population-based cohort study, BD patients compared with the general population have a 10.73-fold risk of blindness in 10 years and also a substantially higher risk of diverse ocular comorbidities that pose potential threats to vision.
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Síndrome de Behçet , Catarata , Glaucoma , Uveíte , Masculino , Feminino , Humanos , Síndrome de Behçet/complicações , Estudos de Coortes , Uveíte/etiologia , Glaucoma/complicações , Glaucoma/epidemiologia , Cegueira/complicações , Catarata/complicações , Estudos RetrospectivosRESUMO
OBJECTIVES: To analyse the ophthalmic manifestations and treatment outcomes of Korean patients with granulomatosis with polyangiitis (GPA). METHODS: One hundred twenty patients diagnosed with GPA by rheumatologists from January 1984 to March 2019 at three referral centres were retrospectively reviewed. Patients with ophthalmic symptoms were examined by ophthalmologists and underwent orbital imaging. Ophthalmic manifestations were divided into ocular involvement and ocular adnexal involvement. Multivariable logistic regression was used to examine the factors related to ocular, ocular adnexal, and optic nerve involvement. Visual improvement was defined as a best-corrected visual acuity gain of ≥2 Snellen lines, accompanied by improvements in optic nerve function. RESULTS: Ophthalmic manifestations were observed in 50 patients (41.7%) during the median follow-up period of 6.7 years. Proteinase 3-anti-neutrophil cytoplasmic antibody (PR3-ANCA) positivity (odds ratio 3.19, 95% confidence interval 1.18-8.60) was an independent risk factor for ocular involvement, while sinonasal involvement (21.94, 2.54-189.69) and brain involvement (5.38, 1.50-19.31) were independent risk factors for ocular adnexal involvement. Antinuclear antibody (ANA) positivity was associated with optic nerve involvement (12.8, 1.80-90.5). Visual improvement occurred in 5 of 14 patients with optic nerve involvement, all of whom received intravenous (IV) immunosuppressive treatments beyond oral steroids within 2 months of visual impairment. CONCLUSIONS: Ophthalmic involvement is common in Korean GPA patients and should be considered in the presence of PR3-ANCA, sinonasal or brain involvement. Patients with positive ANA have an increased risk of optic nerve involvement, and early IV immunosuppressive treatments beyond oral steroids are necessary to improve the visual outcome.
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Oftalmopatias , Granulomatose com Poliangiite , Humanos , Estudos Retrospectivos , Granulomatose com Poliangiite/complicações , Granulomatose com Poliangiite/tratamento farmacológico , Granulomatose com Poliangiite/diagnóstico , Anticorpos Anticitoplasma de Neutrófilos , Oftalmopatias/etiologia , Imunossupressores/uso terapêutico , República da Coreia/epidemiologiaRESUMO
AIMS: To investigate the longitudinal changes of peripapillary retinal nerve fibre layer (RNFL) and choroidal thickness during myopic axial elongation. METHODS: Peripapillary RNFL and choroidal thickness were prospectively evaluated by spectral-domain optical coherence tomography (SD-OCT) in 46 eyes of 23 myopic children over the course of 4 years. Using serial OCT images acquired based on a fixed scan circle in the glaucoma progression analysis mode, general and sectoral RNFL thicknesses were acquired at the same position and the angular location of the peak was measured. The peripapillary choroidal thickness likewise was measured at eight positions in serial OCT images. RESULTS: The mean age at the baseline was 9.6±1.7 years. The mean axial length increased from 24.80±1.28 mm to 25.64±1.35 mm. The global peripapillary RNFL thickness was 98.54±12.06 µm at baseline. The global and sectoral RNFL thicknesses did not change during the 4 years. The angular location of RNFL peaks was also stable and was located in the superotemporal (64.18±10.85°) and inferotemporal (293.98±11.62°) sectors. The global peripapillary choroidal thickness was 145.40±28.67 µm at the baseline. The global and sectoral choroidal thicknesses did not change during the 4 years. CONCLUSIONS: The peripapillary RNFL and choroidal thicknesses as well as the locations of the RNFL peaks had been preserved, during the 4-year follow-up on myopic children, when traced and measured from the same location.
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Miopia , Disco Óptico , Criança , Humanos , Estudos de Coortes , Células Ganglionares da Retina , Fibras Nervosas , Miopia/diagnóstico , Tomografia de Coerência Óptica/métodosRESUMO
Although the clinical activity score (CAS) is a validated scoring system for identifying disease activity of thyroid-associated orbitopathy (TAO), it may produce differing results depending on the evaluator, and an experienced ophthalmologist is required for accurate evaluation. In this study, we developed a machine learning (ML)-assisted system to mimic an expert's CAS assessment using digital facial images and evaluated its accuracy for predicting the CAS and diagnosing active TAO (CAS ≥ 3). An ML-assisted system was designed to assess five CAS components related to inflammatory signs (redness of the eyelids, redness of the conjunctiva, swelling of the eyelids, inflammation of the caruncle and/or plica, and conjunctival edema) in patients' facial images and to predict the CAS by considering two components of subjective symptoms (spontaneous retrobulbar pain and pain on gaze). To train and test the system, 3,060 cropped images from 1020 digital facial images of TAO patients were used. The reference CAS for each image was scored by three ophthalmologists, each with > 15 years of clinical experience. We repeated the experiments for 30 randomly split training and test sets at a ratio of 8:2. The sensitivity and specificity of the ML-assisted system for diagnosing active TAO were 72.7% and 83.2% in the test set constructed from the entire dataset. For the test set constructed from the dataset with consistent results for the three ophthalmologists, the sensitivity and specificity for diagnosing active TAO were 88.1% and 86.9%. In the test sets from the entire dataset and from the dataset with consistent results, 40.0% and 49.9% of the predicted CAS values were the same as the reference CAS, respectively. The system predicted the CAS within 1 point of the reference CAS in 84.6% and 89.0% of cases when tested using the entire dataset and in the dataset with consistent results, respectively. An ML-assisted system estimated the clinical activity of TAO and detect inflammatory active TAO with reasonable accuracy. The accuracy could be improved further by obtaining more data. This ML-assisted system can help evaluate the disease activity consistently as well as accurately and enable the early diagnosis and timely treatment of active TAO.
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Exoftalmia , Oftalmopatia de Graves , Humanos , Oftalmopatia de Graves/diagnóstico por imagem , Órbita , Sensibilidade e EspecificidadeRESUMO
PURPOSE: To quantitatively analyze morphological and functional alterations of the meibomian glands in eyes with marginal entropion and their changes after surgery. METHODS: Sixty eyes of 52 patients with marginal entropion and underwent meibography and interferometer were included. One-hundred and seventeen age- and sex-matched eyes with minimal to mild meibomian gland dysfunction (MGD) were recruited as control eyes. Meibomian gland loss (MGL) and lipid layer thickness (LLT) were compared between eyes with marginal entropion and control eyes. Subgroup analysis was performed according to the extent of entropion. MGL and average LLT at 1 and 5 months after surgery were compared with those of 20 eyes with marginal entropion followed without surgery. RESULTS: In eyes with marginal entropion, MGL was higher (27.7% vs. 12.8%, P = 0.014), and average LLT was thinner (64 nm vs. 86 nm, P = 0.005) than those in control eyes. MGL was higher in eyes with more extensive entropion (> 2/3 eyelid width) than in eyes with less extensive entropion (≤ 1/3 eyelid width) (40.5% vs. 13.2%, P = 0.001). Average LLT increased after surgery (97 nm at 1 month, P = 0.003; 75 nm at 5 months, P = 0.319), and thicker than that of eyes followed without surgery (97 nm vs. 66 nm, P = 0.046). MGLs after surgery remained unchanged from the preoperative MGL (all P > 0.7). CONCLUSION: Marginal entropion is associated with morphological and functional alterations of the meibomian glands. Functional improvement after entropion repair suggests that marginal entropion could cause or exacerbate MGD. Further studies are required to establish the role of entropion repair in managing MGD.
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Blefaroplastia , Síndromes do Olho Seco , Entrópio , Doenças Palpebrais , Disfunção da Glândula Tarsal , Entrópio/cirurgia , Humanos , Glândulas Tarsais , LágrimasRESUMO
PURPOSE: To investigate the association between the bony nasolacrimal duct (NLD) size and outcomes of nasolacrimal silicone intubation for incomplete primary acquired nasolacrimal duct obstruction (PANDO). METHODS: Patients who underwent silicone intubation for incomplete PANDO and had undergone facial computed tomography (CT) were included. Surgical success was judged by both epiphora improvement and normalized tear meniscus height (TMH; < 300 µm) on anterior segment optical coherence tomography at 3 months after tube removal. The area, major axis diameter, and minor axis diameter of the elliptic bony NLD sections were measured in 1.0 mm-thick axial CT images. These bony NLD sizes were analyzed for associations with surgical success and TMH normalization. RESULTS: Eighty-one eyes of 48 patients were investigated. The smallest area and the smallest minor axis diameter were significantly larger in the success group (49 eyes), compared with those in the failure group (median smallest minor axis diameter: 4.7 mm vs. 3.8 mm, P = 0.008, Mann-Whitney U test). There was also a tendency for the TMH normalization rate to significantly increase as the smallest area and the smallest minor axis diameter increased (P = 0.028 and 0.037, respectively, Fisher's 2 × 4 tests). Under multivariable logistic regression analysis using generalized estimating equation, a larger smallest minor axis diameter was associated with success of the nasolacrimal silicone intubation (odds ratio: 2.481, 95% confidence interval: 1.143-5.384). CONCLUSION: Surgical success of the nasolacrimal silicone intubation in incomplete PANDO is associated with a larger smallest minor axis diameter of the bony NLD. This finding will help understand the pathophysiology of surgical failure after nasolacrimal silicone intubation.
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Dacriocistorinostomia , Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Humanos , Intubação , Obstrução dos Ductos Lacrimais/terapia , Ducto Nasolacrimal/diagnóstico por imagem , Ducto Nasolacrimal/cirurgia , Silicones , Resultado do TratamentoRESUMO
BACKGROUND/AIMS: To report the long-term outcomes of enucleation and insertion of porous polyethylene (PP) orbital implant according to the evolving surgical techniques and implant in patients with paediatric retinoblastoma . METHODS: Patients with paediatric retinoblastoma who underwent enucleation and PP implant insertion from December 1998 to December 2014 were retrospectively reviewed and divided into four groups: group A, classic enucleation +PP implant; group B, enucleation +PP implant +anterior closure of the posterior Tenon's (ACPT) capsule; group C, enucleation +PP implant +free orbital fat graft +ACPT and group D, enucleation +smooth surface tunnel PP implant +ACPT. Survival analysis of implant exposure and eyelid malpositions was performed. RESULTS: One hundred and ninety-eight eyes of 196 patients were included. The median follow-up period was 13.0 years (range, 5.0-21.1). A 20 mm implant was inserted for 149 eyes (75.3%). The 10-year exposure-free survival probabilities were 44.6% in group A, 96.4% in group B, 97.4% in group C and 97.7% in group D. ACPT was associated with significant reduction in implant exposure (p<0.001). The most common eyelid malposition was upper eyelid ptosis (24.2%). The eyelid malposition-free survival probability did not differ among the four groups. However, the insertion of a 20 mm implant was associated with significant reduction in upper eyelid ptosis and lower eyelid entropion (p=0.004 and 0.038, respectively). CONCLUSIONS: The long-term postenucleation implant exposure was rare after PP implant insertion and ACPT, even with a 20 mm-diameter implant. A larger implant can be beneficial in long-term prevention of eyelid malposition.
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Blefaroptose , Implantes Orbitários , Neoplasias da Retina , Retinoblastoma , Blefaroptose/cirurgia , Criança , Enucleação Ocular , Seguimentos , Humanos , Polietilenos , Porosidade , Complicações Pós-Operatórias/cirurgia , Implantação de Prótese/métodos , Neoplasias da Retina/cirurgia , Retinoblastoma/cirurgia , Estudos RetrospectivosRESUMO
PURPOSE: To evaluate the effects of the concomitant use of spacer grafts in lateral tarsal strip surgery in patients with facial nerve palsy-related lower-eyelid retraction. METHODS: Patients who underwent lateral tarsal strip surgery to correct facial nerve palsy-related lower-eyelid retraction were retrospectively reviewed. Postoperative decreases in marginal reflex distance-2 values at 1, 2 and 6 months were measured along with the effects of spacer grafts. RESULTS: Forty-five patients (28 males) were included (mean age: 59.56 years). Mean preoperative marginal reflex distance-2 was 6.87 ± 1.34 mm. Twenty patients underwent lateral tarsal strip surgery only (lateral tarsal strip-only); 25 patients underwent lateral tarsal strip surgery using spacer grafts (lateral tarsal strip + graft). Median (interquartile range) follow-up duration was 12.0 (6.0-23.0) months. Retraction was significantly improved and maintained at 1, 2 and 6 months postoperatively in all patients (mean marginal reflex distance-2: 3.78 ± 1.06 mm, 4.30 ± 1.23 mm and 4.72 ± 1.11 mm, respectively). Surgical outcomes were significantly better in the lateral tarsal strip + graft than in the lateral tarsal strip-only group (Δmarginal reflex distance-2: 3.92 vs. 2.05 mm at 1 month, p < 0.001; 3.38 vs. 1.61 mm at 2 months, p = 0.001; 2.88 vs. 1.69 at 6 months, p = 0.042). Subgroup analyses by spacer graft type revealed no significant differences. CONCLUSION: The concomitant use of spacer material in lateral tarsal strip surgery yielded better surgical outcomes than lateral tarsal strip surgery alone. The use of spacer grafts should be considered for correcting severe facial nerve palsy-related lower-eyelid retraction.
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Doenças Palpebrais , Paralisia Facial , Doenças Palpebrais/cirurgia , Pálpebras/cirurgia , Nervo Facial/cirurgia , Paralisia Facial/complicações , Paralisia Facial/cirurgia , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do TratamentoRESUMO
PURPOSE: To evaluate the various surgical modalities of congenital lacrimal fistula and assess the mutual effect of lacrimal fistula and lacrimal drainage abnormality on the individual surgical outcomes. METHODS: In this retrospective cohort and case-control study, 74 eyes from 63 patients with lacrimal fistula who underwent surgical management between 2000 and 2015 at three medical centers were enrolled. The data collected included sex, age, preoperative symptoms, presence of concurrent lacrimal drainage abnormality, surgical methods, and surgical outcomes. The main outcome measures were treatment outcomes based on lacrimal drainage patency and symptom improvement, surgical outcome of fistulectomy according to the presence of lacrimal drainage abnormality, and surgical outcome of lacrimal drainage abnormality according to the presence of fistula. RESULTS: The mean age at the time of surgery was 9.2 (SD, ±8.8) years and the mean follow-up duration was 14.4 (SD, ±19.5) months. All eyes (37/37) with fistula without lacrimal drainage abnormality demonstrated surgical success after simple fistulectomy. Patients with concurrent lacrimal drainage abnormalities showed more frequent surgical failure than those with fistula alone (p = 0.009). However, the presence of fistula did not affect the outcomes of surgery for lacrimal drainage abnormality (p = 0.179). CONCLUSION: Simple fistulectomy is sufficient for sole asymptomatic or pauci-symptomatic lacrimal fistula. Symptomatic fistula as well as those accompanied with lacrimal drainage abnormality underwent fistulectomy and lacrimal drainage system surgery. Patients with accompanying lacrimal drainage system abnormalities showed less favorable outcomes. Meticulous preoperative examination of the lacrimal drainage system is critical for surgical planning and prognosis prediction.
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Dacriocistorinostomia , Fístula , Doenças do Aparelho Lacrimal , Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Estudos de Casos e Controles , Fístula/cirurgia , Humanos , Doenças do Aparelho Lacrimal/cirurgia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
The biological behavior of sebaceous carcinoma (SeC) is relatively indolent; however, local invasion or distant metastasis is sometimes reported. Nevertheless, a lack of understanding of the genetic background of SeC makes it difficult to apply effective systemic therapy. This study was designed to investigate major genetic alterations in SeCs in Korean patients. A total of 29 samples, including 20 ocular SeCs (SeC-Os) and 9 extraocular SeCs (SeC-EOs), were examined. Targeted next-generation sequencing tests including 171 cancer-related genes were performed. TP53 and PIK3CA genes were frequently mutated in both SeC-Os and SeC-EOs with slight predominance in SeC-Os, whereas the NOTCH1 gene was more commonly mutated in SeC-EOs. In clinical correlation, mutations in RUNX1 and ATM were associated with development of distant metastases, and alterations in MSH6 and BRCA1 were associated with inferior progression-free survival (all p < 0.05). In conclusion, our study revealed distinct genetic alterations between SeC-Os and SeC-EOs and some important prognostic molecular markers. Mutations in potentially actionable genes, including EGFR, ERBB2, and mismatch repair genes, were noted, suggesting consideration of a clinical trial in intractable cases.
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PURPOSE: To investigate whether the position of the central retinal vascular trunk (CRVT), as a surrogate of lamina cribrosa (LC) offset, was associated with the presence of glaucoma in normal-tension glaucoma (NTG) patients. METHODS: The position of the CRVT was measured as the deviation from the center of the Bruch's membrane opening (BMO), as delineated by spectral-domain optical coherence tomography imaging. The offset index was calculated as the distance of the CRVT from the BMO center relative to that of the BMO margin. The angular deviation of CRVT was measured with the horizontal nasal midline as 0° and the superior location as a positive value. The offset index and angular deviation were compared between glaucoma and fellow control eyes within individuals. RESULTS: NTG eyes had higher baseline intraocular pressure (P = 0.001), a larger ß-zone parapapillary atrophy area (P = 0.013), and a larger offset index (P<0.001). In a generalized linear mixed-effects model, larger offset index was the only risk factor of NTG diagnosis (OR = 31.625, P<0.001). A generalized estimating equation regression model revealed that the offset index was larger in the NTG eyes than in the control eyes for all ranges of axial length, while it was the smallest for the axial length of 23.4 mm (all P<0.001). CONCLUSIONS: The offset index was larger in the unilateral NTG eyes, which fact is suggestive of the potential role of LC/BMO offset as a loco-regional susceptibility factor.
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Glaucoma de Baixa Tensão/fisiopatologia , Retina/fisiopatologia , Veia Retiniana/fisiopatologia , Adulto , Idoso , Lâmina Basilar da Corioide/fisiologia , Feminino , Glaucoma/diagnóstico , Glaucoma de Ângulo Aberto/diagnóstico , Humanos , Pressão Intraocular/fisiologia , Glaucoma de Baixa Tensão/diagnóstico , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/fisiologia , Disco Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/diagnóstico , Retina/metabolismo , Células Ganglionares da Retina/fisiologia , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Testes de Campo Visual/métodos , Campos Visuais/fisiologiaRESUMO
Objectives: To investigate the characteristics of margin reflex distance 1 (MRD1) asymmetry in congenital lower eyelid epiblepharon and its resolution after surgical correction of epiblepharon.Methods: Among patients who underwent lower eyelid epiblepharon surgery from November 2015 to September 2017, patients with a preoperative MRD1 difference of more than 1.0 mm between the two eyes according to medical photographs were defined as having MRD1 asymmetry. A postoperative MRD1 difference of less than 1.0 mm between the two eyes was regarded as MRD1 asymmetry resolution. The preoperative MRD1 difference was compared between subgroups with resolved or sustained MRD1 asymmetry. Astigmatism and amblyopia were also assessed.Results: Among 432 patients, MRD1 asymmetry was observed in 24 patients (5.6%). MRD1 was always lower in the side with more extensive epiblepharon. At 6 months after surgery, the mean MRD1 difference between the two eyes was significantly decreased (1.8 ± 0.7 mm to 0.5 ± 0.8 mm, p < .001, paired t-test) and MRD1 asymmetry resolution occurred in 19 patients (79%). In the resolved MRD1 asymmetry group, the preoperative MRD1 difference was 2.0 mm or less and was significantly smaller than that in the sustained MRD1 asymmetry group (p = .010, Mann-Whitney U test). Six patients had preoperative aniso-astigmatism ≥ 1.50 D. Unilateral amblyopia presented in nine patients (38%) and improved within 1 year postoperatively.Conclusions: MRD1 asymmetry can be resolved after epiblepharon surgery, especially when the preoperative MRD1 difference is 2.0 mm or less. Unilateral amblyopia was frequent, but the treatment outcome was good.
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Blefaroplastia/efeitos adversos , Doenças Palpebrais/congênito , Doenças Palpebrais/etiologia , Pálpebras/anormalidades , Pálpebras/fisiopatologia , Reflexo Pupilar/fisiologia , Blefaroplastia/métodos , Criança , Pré-Escolar , Doenças Palpebrais/fisiopatologia , Doenças Palpebrais/cirurgia , Pálpebras/cirurgia , Feminino , Humanos , Masculino , Período Pós-Operatório , Refração Ocular/fisiologia , Estudos Retrospectivos , Acuidade Visual/fisiologiaRESUMO
AIM: To report CT and MR imaging findings of ocular adnexal mucosa-associated lymphoid tissue lymphoma associated with IgG4-related disease (IgG4-MALT lymphoma), a rare but clinically important complication of ocular adnexal IgG4-related disease. METHODS: We retrospectively reviewed all cases of histologically confirmed ocular adnexal IgG4-related disease at three tertiary and one secondary referral centers, between February 2003 and December 2016. Seven cases of histopathologically diagnosed IgG4-MALT lymphoma were identified. CT and MR images were analyzed by consensus of two experienced head and neck radiologists. RESULTS: Lacrimal glands were the main site of involvement in all seven patients. The lesions typically showed well-demarcated margins, iso- to hyperattenuation on precontrast CT, T2 hypo- to isointensity, T1 isointensity, and homogenous internal architecture with homogenous enhancement pattern. Lesions were mostly hyperdense and isointense to normal extraocular muscles on postcontrast CT and MR images, respectively. CONCLUSION: Unlike in typical ocular adnexal IgG4-related disease, T2 isointensity and hyperattenuation on precontrast CT images were noted in some IgG4-MALT lymphoma cases. Although the findings may be nonspecific, the possibility of accompanying MALT lymphoma may need to be considered, when ocular adnexal lesions in patients clinically suspected of having IgG4-related disease are refractory to glucocorticoids and show T2 isointensity and hyperattenuation on precontrast CT for the optimal management of the patients. However, this is a case series of a very rare complication of ocular adnexal IgG4-related disease, and thus caution is warranted to generalize the conclusion.
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Purpose: To present five cases of lower eyelid cicatricial entropion secondary to ocular cicatricial pemphigoid (OCP) successfully repaired with a conjunctival-sparing surgical technique.Methods: The records of one surgeon (SKF) were reviewed to identify patients with lower eyelid cicatricial entropion secondary to OCP who underwent repair with a conjunctival-sparing technique between September 1, 2016 and October 18, 2017. The medical records were reviewed and extracted data included: age, gender, past medical history, current medical and OCP status, clinical examination, details of entropion repair surgery, and outcome.Results: Five patients (three female, two male) were included with ages ranging from 44 to 93 years. All had biopsy proven OCP, which was in remission at the time of surgery, and all were currently receiving immunomodulatory medications. All patients were symptomatic from cicatricial entropion secondary to OCP and underwent successful lower eyelid entropion repair with a conjunctival-sparing technique described herein, involving infraciliary rotation with suture fixation of the orbicularis muscle to the tarsus. Other contributing mechanisms of eyelid malposition including horizontal eyelid laxity and orbicularis oculi override were addressed simultaneously with lateral tarsal plication or orbicularis muscle debulking, resulting in 100% anatomic success and relief of symptoms with no cases of OCP reactivation, and with good durability with an average 13.9 months follow up (range 6.5-22 months).Conclusions: Successful repair of lower eyelid cicatricial entropion in immunomodulated patients with OCP can be achieved without disease reactivation using a surgical technique that spares the conjunctiva and lower eyelid retractors.
Assuntos
Entrópio/cirurgia , Oftalmopatias/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Penfigoide Mucomembranoso Benigno/complicações , Adulto , Idoso , Cicatriz/etiologia , Cicatriz/patologia , Cicatriz/cirurgia , Túnica Conjuntiva , Entrópio/diagnóstico , Entrópio/etiologia , Oftalmopatias/diagnóstico , Pálpebras/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Tratamentos com Preservação do Órgão/métodos , Penfigoide Mucomembranoso Benigno/diagnóstico , Estudos Retrospectivos , Medição de Risco , Estudos de Amostragem , Resultado do TratamentoRESUMO
PURPOSE: To evaluate long-term outcomes of maintenance of lacrimal silicone stent for the management of functional epiphora after anatomically patent external dacryocystorhinostomy (DCR). METHODS: We retrospectively reviewed the medical records of 101 eyes of 75 patients who were diagnosed to have functional epiphora after external DCR from 2005 to 2014. Functional epiphora was defined as epiphora that persisted or recurred even after patent DCR confirmed by a lacrimal irrigation test. Secondary silicone intubation was indicated when the patients wanted a further intervention. The stent was intended to be kept in situ unless there was a stent-related complication or the patient wanted removal. RESULTS: In total, 34 of 75 patients (45.3%, 52 eyes) who agreed to the intervention underwent secondary silicone intubation. The success rates at 1, 3, and 5 years after surgery were 96.2%, 75.5%, and 70.2%, respectively. At the final follow-up (mean 72.7 ± 26.4 months), 32 (61.5%) eyes chose to retain the silicone tube: silicone stent was well maintained without epiphora and complications once inserted in 18 eyes (34.6%), whereas tube replacement was needed in 14 eyes (26.9%) because of nasal crust or whitish plaque formation on the tube surface. In 13 cases (25.0%), silicone stent was removed because of tube-related complications, and the most common complication was canaliculitis (n = 8, 15.4%). CONCLUSIONS: Secondary intubation and maintenance of the stent is an effective and simple procedure for functional epiphora. The main obstacle to long-term maintenance is tube-associated canaliculitis.
Assuntos
Dacriocistorinostomia , Doenças do Aparelho Lacrimal , Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Humanos , Intubação , Doenças do Aparelho Lacrimal/etiologia , Doenças do Aparelho Lacrimal/cirurgia , Obstrução dos Ductos Lacrimais/etiologia , Obstrução dos Ductos Lacrimais/terapia , Ducto Nasolacrimal/cirurgia , Estudos Retrospectivos , Silicones , Stents , Resultado do TratamentoRESUMO
BACKGROUND: Trastuzumab emtansine (Kadcyla®, T-DM1) is an antibody-drug conjugate used to treat HER2 (human epidermal growth factor receptor 2) overexpressing metastatic breast cancer. In this report, we present the first case of lacrimal drainage system stenosis identified after T-DM1 administration, and its successful treatment with a topical steroid. CASE PRESENTATION: A 36-year-old female with metastatic breast cancer was referred for excessive tearing of both eyes. She previously underwent mastectomy and was treated with multiple anti-cancer regimens. However, metastases to liver and bone were identified and T-DM1 was administered. After 2 months, epiphora developed in both eyes and the patient was referred for ophthalmologic examination. The height of the tear meniscus was increased. The fluorescein dye disappearance test (FDDT) showed a delayed clearance in both eyes. Diagnostic lacrimal probing demonstrated a lower distal canalicular stenosis in both eyes. Dacryocystography indicated multiple focal narrowing of nasolacrimal duct in the right eye and diffused narrowing of nasolacrimal duct in the left eye. Topical eyedrop of tobramycin 0.3% and dexamethasone 0.1% were prescribed four times a day. After 2 months of treatment, the patient reported relief from epiphora, and the height of tear meniscus was normalized in both eyes. CONCLUSION: T-DM1 administration in breast cancer treatment can induce lacrimal drainage system stenosis, which can be treated effectively with a topical steroid.