RÉSUMÉ
PURPOSE: To determine the importance of optical coherence tomography (OCT) in patients scheduled for cataract surgery who present with no pathologies in biomicroscopic fundus examination. DESIGN: Retrospective study. METHODS: In this study, the routine ophthalmologic examination of patients who were recommended cataract surgery was performed.Occult retinal pathologies were evaluated using OCT in patients without any pathologies in biomicroscopic fundus examination.According to whether retinal pathologies were detected on OCT, the patients were divided into two groups: normal and abnormal OCT.The findings of patients with retinal pathologies on OCT and their distribution according to age were also evaluated. RESULTS: A total of 271 eyes from 271 patients were evaluated.The number of patients with retinal pathologies on OCT despite normal fundoscopic examination findings was 38(14.0%).Of these patients,15(39.4%) had an epiretinal membrane,10(26.3%) had age-related macular degeneration, eight(21%) had vitreomacular traction, two(5.2%) had a lamellar hole, and 1(2.6%) patient each had a full-thickness macular hole, an intraretinal cyst, and photoreceptor layer damage.The age distribution of the patients with retinal pathologies was as follows: two patients,<60 years; six patients,60-70 years;14 patients,70-80 years; and 16 patients,>80 years.The rate of patients aged > 70 years and above was 78.9%.There was no statistically significant difference between the normal and abnormal OCT groups in terms of age, gender, the presence of systemic diseases, visual acuity, central macular thickness, and cataract type or density(p > 0.05 for all). CONCLUSION: In one of seven patients evaluated, retinal pathologies were detected on OCT despite normal fundoscopic examination findings.OCT can be used to detect occult retinal pathologies that cannot be detected by biomicroscopic fundus examination before cataract surgery.
Sujet(s)
Extraction de cataracte , Rétinopathies , Tomographie par cohérence optique , Humains , Tomographie par cohérence optique/méthodes , Études rétrospectives , Sujet âgé , Adulte d'âge moyen , Mâle , Femelle , Sujet âgé de 80 ans ou plus , Rétinopathies/diagnostic , Rétinopathies/imagerie diagnostique , Adulte , Acuité visuelle , Cataracte/diagnostic , Cataracte/complications , Cataracte/imagerie diagnostique , Soins préopératoires/méthodesSujet(s)
Angiographie fluorescéinique , Occlusion artérielle rétinienne , Syndrome de Susac , Tomographie par cohérence optique , Humains , Occlusion artérielle rétinienne/étiologie , Occlusion artérielle rétinienne/diagnostic , Syndrome de Susac/diagnostic , Syndrome de Susac/complications , Tomographie par cohérence optique/méthodes , Angiographie fluorescéinique/méthodes , Femelle , Maladie aigüe , Rétinopathies/étiologie , Rétinopathies/diagnostic , Adulte , Macula/imagerie diagnostique , Macula/anatomopathologie , Acuité visuelle/physiologie , MâleSujet(s)
Colobome , Papille optique , Humains , Colobome/complications , Colobome/diagnostic , Colobome/imagerie diagnostique , Papille optique/malformations , Papille optique/imagerie diagnostique , Mâle , Tomographie par cohérence optique , Femelle , Rétinopathies/complications , Rétinopathies/diagnostic , Rétinopathies/imagerie diagnostiqueRÉSUMÉ
Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organs and systems. Ocular involvement is estimated to manifest in one-third of individuals with SLE, of which lupus retinopathy and choroidopathy represent the severe subtype accompanied by vision impairment. Advancements in multimodal ophthalmic imaging have allowed ophthalmologists to reveal subclinical microvascular and structural changes in fundus of patients with SLE without ocular manifestations. Both ocular manifestations and subclinical fundus damage have been shown to correlate with SLE disease activity and, in some patients, even precede other systemic injuries as the first presentation of SLE. Moreover, ocular fundus might serve as a window into the state of systemic vasculitis in patients with SLE. Given the similarities of the anatomy, physiological and pathological processes shared among ocular fundus, and other vital organ damage in SLE, such as kidney and brain, it is assumed that ocular fundus involvement has implications in the diagnosis and evaluation of other systemic impairments. Therefore, evaluating the fundus characteristics of patients with SLE not only contributes to the early diagnosis and intervention of potential vision damage, but also holds considerate significance for the evaluation of SLE vasculitis state and prediction of other systemic injuries.
Sujet(s)
Fond de l'oeil , Lupus érythémateux disséminé , Humains , Lupus érythémateux disséminé/complications , Lupus érythémateux disséminé/diagnostic , Rétinopathies/étiologie , Rétinopathies/diagnostic , Rétinopathies/anatomopathologie , Maladies de la choroïde/étiologie , Maladies de la choroïde/diagnosticRÉSUMÉ
This review is devoted to the English- and Russian-language terminology of quantitative metrics that are used in the evaluation of images obtained by optical coherence tomography angiography (OCT-A). The paper presents an analysis of the use of terms characterizing intraretinal blood flow (vascular density, perfusion density, skeletonized density, etc.), area and shape of the foveal avascular zone, and choriocapillaris blood flow. The factors causing the heterogeneity of OCT-A terminology are described, including the lack of a unified international nomenclature for OCT-A, features of their Russian translation, inconsistency of the parameters in optical coherence tomography systems of different manufacturers. The article also considers ways to standardize the terminology.
Sujet(s)
Vaisseaux rétiniens , Tomographie par cohérence optique , Tomographie par cohérence optique/méthodes , Humains , Vaisseaux rétiniens/imagerie diagnostique , Terminologie comme sujet , Rétinopathies/imagerie diagnostique , Rétinopathies/diagnostic , Angiographie fluorescéinique/méthodes , Choroïde/vascularisation , Choroïde/imagerie diagnostiqueRÉSUMÉ
The prevalence of vision impairment is increasing at an alarming rate. The goal of the study was to create an automated method that uses optical coherence tomography (OCT) to classify retinal disorders into four categories: choroidal neovascularization, diabetic macular edema, drusen, and normal cases. This study proposed a new framework that combines machine learning and deep learning-based techniques. The utilized classifiers were support vector machine (SVM), K-nearest neighbor (K-NN), decision tree (DT), and ensemble model (EM). A feature extractor, the InceptionV3 convolutional neural network, was also employed. The performance of the models was evaluated against nine criteria using a dataset of 18000 OCT images. For the SVM, K-NN, DT, and EM classifiers, the analysis exhibited state-of-the-art performance, with classification accuracies of 99.43%, 99.54%, 97.98%, and 99.31%, respectively. A promising methodology has been introduced for the automatic identification and classification of retinal disorders, leading to reduced human error and saved time.
Sujet(s)
Algorithmes , Intelligence artificielle , , Rétinopathies , Machine à vecteur de support , Tomographie par cohérence optique , Humains , Tomographie par cohérence optique/méthodes , Rétinopathies/diagnostic , Rétinopathies/imagerie diagnostique , Apprentissage profond , Rétine/imagerie diagnostique , Rétine/anatomopathologie , Arbres de décision , Rétinopathie diabétique/diagnostic , Rétinopathie diabétique/imagerie diagnostique , Apprentissage machine , Néovascularisation choroïdienne/imagerie diagnostique , Néovascularisation choroïdienne/diagnostic , Oedème maculaire/imagerie diagnostique , Oedème maculaire/diagnosticRÉSUMÉ
Objective: Assessment of the utility of smartphone fundoscopy in diagnosing posterior pole pathologies. Methods: An iPhone 12 and a 20D Volk lens were used for smartphone fundoscopy. Patients needing bedside consultation were examined with direct ophthalmoscopy and smartphone fundoscopy. Some patients were examined with this technique after slit lamp examination. Results: Over one year 23 bedside fundus examinations were performed and 2 papilledema were diagnosed. After initial slit lamp examination, photos of various pathologies were taken: age-related macular degeneration, branch retinal artery occlusion, arterial embolus, branch retinal vein occlusion, non-arteritic anterior ischemic optic neuropathy, myelinated retinal nerve fiber layer, choroidal naevus. Discussion: With the 20D lens, the image is overturned, magnified 3,13X, and the field of view is 46°. The utility was demonstrated in literature by teaching students this technique and using it in screening for retinopathy of prematurity. The weighted retinal irradiance was measured in two studies. It was 4,6 mW/cm2 in one and from 0,58 to 2,30 mW/cm2 in the other, within safe limits. Conclusions: Smartphone fundoscopy is a fast, accessible, and safe technique for fundus examinations. Other departments could use it for the diagnosis of papilledema.
Sujet(s)
Fond de l'oeil , Ophtalmoscopie , Ordiphone , Humains , Ophtalmoscopie/méthodes , Rétinopathies/diagnostic , Mâle , Femelle , Conception d'appareillageSujet(s)
Antiviraux , Implant pharmaceutique , Endophtalmie , Ganciclovir , Vitrectomie , Humains , Vitrectomie/méthodes , Endophtalmie/diagnostic , Endophtalmie/microbiologie , Endophtalmie/chirurgie , Antiviraux/usage thérapeutique , Ganciclovir/usage thérapeutique , Ganciclovir/administration et posologie , Ablation de dispositif/méthodes , Rétinopathies/chirurgie , Rétinopathies/diagnostic , Migration d'un corps étranger/diagnostic , Migration d'un corps étranger/chirurgie , Infections virales de l'oeil/diagnostic , Infections virales de l'oeil/virologie , Infections virales de l'oeil/chirurgieRÉSUMÉ
PURPOSE: To provide a genotype and phenotype characterization of the BEST1 mutation in Chinese patients with autosomal recessive bestrophinopathy (ARB) through multimodal imaging and next-generation sequencing (NGS). METHODS: Seventeen patients from 17 unrelated families of Chinese origin with ARB were included in a retrospective cohort study. Phenotypic characteristics, including anterior segment features, were assessed by multimodal imaging. Multigene panel testing, involving 586 ophthalmic disease-associated genes, and Sanger sequencing were performed to identify disease-causing variants. RESULTS: Among 17 ARB patients, the mean follow-up was 15.65 months and average onset age was 30.53 years (range: 9-68). Best corrected visual acuity ranged from light perception to 0.8. EOG recordings showed a typically decreased Arden ratio in 12 patients, and a normal or slightly decreased Arden ratio in two patients. Anterior features included shallow anterior chambers (16/17), ciliary pronation (16/17), iris bombe (13/17), iridoschisis (2/17), iris plateau (1/17), narrow angles (16/17) and reduced axial lengths (16/17). Sixteen patients had multiple bilateral small, round, yellow vitelliform deposits distributed throughout the posterior pole, surrounding the optic disc. Initial diagnoses included angle-closure glaucoma (four patients), Best disease (three patients), and central serous chorioretinopathy secondary to choroidal neovascularization (CNV) (one patient), with the remainder diagnosed with ARB. Fourteen patients underwent preventive laser peripheral iridotomy, four of whom also received combined trabeculectomy and iridotomy in both eyes for uncontrolled intraocular pressure. One patient received intravitreal conbercept for CNV. Overall, 15 distinct disease-causing variants of BEST1 were identified, with 14 (82.35%) patients having missense mutations. Common mutations included p. Arg255-256 and p. Ala195Val (both 23.68%), with the most frequent sites in exons 7 and 5. CONCLUSIONS: This study provides a comprehensive characterization of anterior segment and genetic features in ARB, with a wide array of morphological abnormalities. Findings are relevant for refining clinical practices and genetic counseling and advancing pathogenesis research.
Sujet(s)
Bestrophines , Maladies héréditaires de l'oeil , Acuité visuelle , Adolescent , Adulte , Sujet âgé , Enfant , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte , Bestrophines/génétique , Chine/épidémiologie , Analyse de mutations d'ADN , Peuples d'Asie de l'Est , Électro-oculographie , Électrorétinographie , Maladies héréditaires de l'oeil/génétique , Maladies héréditaires de l'oeil/diagnostic , Études de suivi , Génotype , Séquençage nucléotidique à haut débit , Imagerie multimodale , Mutation , Pedigree , Phénotype , Rétinopathies/génétique , Rétinopathies/diagnostic , Études rétrospectives , Tomographie par cohérence optique , Acuité visuelle/physiologieRÉSUMÉ
BACKGROUND: Prior case reports and animal studies have reported on potential ophthalmologic complications of babesiosis, but this issue has not previously been addressed in a cohort of patients with babesiosis. This cross-sectional descriptive pilot study evaluated the retinas of patients with acute babesiosis to determine if retinal abnormalities are a feature of the disease. METHODS: We screened all patients admitted to Yale New Haven Hospital with laboratory confirmed babesiosis during the summer of 2023 and obtained informed consent. Patients were interviewed and underwent pupil dilation and a retinal examination using an indirect ophthalmoscope. Demographic and clinical information were obtained by questionnaire and through chart review. RESULTS: Ten patients underwent retinal eye exams with results that were generally unremarkable. No study patients showed any signs of retinal inflammation, infection, retinal bleeding, retinal tears, or abnormal vessel formation that could be attributed to infection. CONCLUSION: This small study did not find evidence of retinopathy in patients with babesiosis. Further studies with larger populations, repeated exams, and long term follow up will further elucidate the potential small vessel complications of human babesiosis.
Sujet(s)
Babésiose , Parasitoses oculaires , Rétinopathies , Humains , Projets pilotes , Babésiose/complications , Babésiose/diagnostic , Études transversales , Mâle , Femelle , Adulte d'âge moyen , Adulte , Rétinopathies/parasitologie , Rétinopathies/diagnostic , Rétinopathies/étiologie , Parasitoses oculaires/parasitologie , Parasitoses oculaires/diagnostic , Sujet âgé , Rétine/parasitologie , Rétine/anatomopathologieRÉSUMÉ
PURPOSE: To analyze the characteristics of optical coherence tomography in acute macular neuroretinopathy (AMN) following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and discuss the prognostic predictors. METHODS: Patients with AMN following SARS-CoV-2 infection were divided into two groups according to the presence or absence of hyperreflective outer nuclear layer (ONL) lesion involving the fovea. RESULTS: The first visit included 14 eyes in the fovea-involved group and 20 eyes in the no fovea-involved group. Ellipsoid zone (EZ) hyporeflection and interdigitation zone (IZ) interruption were detected in all eyes. Other common manifestations were myoid zone (MZ) hyperreflection (76.5%), ONL hyperreflection (73.5%), outer plexiform layer (OPL) thickening (64.7%), and EZ interruption (50%). The follow-up period was 48.4 ± 55.3 days. At the last visit, 12 eyes were in the fovea-involved group and 13 eyes in the no fovea-involved group. IZ interruption was detected in all eyes. Other common manifestations were EZ hyporeflection (92.0%), ONL atrophy (40.0%), OPL thickening (36.0%), OPL linear (32.0%), and MZ hyperreflection (32%). The improvement of visual acuity (VA) was -0.5 ± 0.5 and -0.2 ± 0.4 in the fovea-involved group and the no fovea-involved group, respectively, with a statistically significant difference between them (P = 0.045). Initial VA, initial cotton wool spot, initial ONL cyst, final ONL cyst, and final OPL linear were associated with final VA (P = 0.000, P = 0.029, P = 0.044, P = 0.049, P = 0.049, respectively). CONCLUSIONS: In the early stage of AMN following SARS-CoV-2 infection, IZ interruption and EZ hyporeflection were the most common manifestations, and pathology of IZ was more serious than that of EZ. Subsequently, OPL and ONL atrophied, and ONL atrophied faster. Regardless of whether hyperreflective ONL involved the fovea, VA improved, with a more noticeable improvement found in the fovea-involved group. The presence of initial ONL cyst and initial cotton wool spot, rapid atrophy of OPL, and poorer initial VA indicating poorer VA outcome.
Sujet(s)
COVID-19 , SARS-CoV-2 , Tomographie par cohérence optique , Acuité visuelle , Humains , Tomographie par cohérence optique/méthodes , COVID-19/complications , COVID-19/diagnostic , Mâle , Femelle , Pronostic , Adulte , Adulte d'âge moyen , Études rétrospectives , Maladie aigüe , Rétinopathies/diagnostic , Rétinopathies/étiologie , Macula/anatomopathologie , Macula/imagerie diagnostique , Études de suiviSujet(s)
Chloroquine , Hydroxychloroquine , Rétinopathies , Tomographie par cohérence optique , Humains , Hydroxychloroquine/effets indésirables , Chloroquine/effets indésirables , Rétinopathies/induit chimiquement , Rétinopathies/diagnostic , Hongrie , Antirhumatismaux/effets indésirables , Électrorétinographie , Dégénérescence maculaire/traitement médicamenteux , Dégénérescence maculaire/diagnostic , Dégénérescence maculaire/induit chimiquement , Guides de bonnes pratiques cliniques comme sujetRÉSUMÉ
PURPOSE: To report optical coherence tomography findings of presumed veterinary anthelmintic drugs (VADs)-induced retinal toxicity that may aid in understanding potential pathogenic mechanisms. METHODS: This is a retrospective observational case series analysis of patients with vision abnormalities following the accidental or intentional consumption of veterinary anthelmintic drugs. All cases underwent a thorough ophthalmological examination. Moreover, medical records, as well as the initial and follow-up optical coherence tomography images, were thoroughly scrutinized. RESULTS: Four patients were identified (3 men; mean [range] age, 36.5 [22-52] years). Each patient overdosed on one or two of the following VADs: closantel, triclabendazole, praziquantel, pyrantel pamoate, and niclofolan. The most characteristic optical coherence tomography finding was diffuse, granular, hyperreflective lesions throughout the outer retina, which were initially identified in the ellipsoid zone in two cases. At follow-up, optical coherence tomography exhibited regression of hyperreflective lesions and extensive loss of the outer retinal elements in two patients. In addition, the subfoveal outer retinal layers may be partially preserved. CONCLUSION: Some veterinary anthelmintic drugs could be detrimental to the human retina if overdosed, resulting in visual disturbances. Optical coherence tomography revealed the mitochondria-enriched ellipsoid zone where outer retinal damage first appeared on, implying that these medications may harm the retina by inhibiting mitochondrial energy metabolism, as they do to eliminate parasites.
Sujet(s)
Anthelminthiques , Rétinopathies , Tomographie par cohérence optique , Tomographie par cohérence optique/méthodes , Humains , Études rétrospectives , Adulte , Adulte d'âge moyen , Mâle , Anthelminthiques/toxicité , Femelle , Jeune adulte , Rétinopathies/induit chimiquement , Rétinopathies/diagnostic , Médicaments vétérinaires/toxicité , Rétine/effets des médicaments et des substances chimiques , Rétine/anatomopathologie , Acuité visuelle , Salicylanilides/toxicité , Triclabendazole , Praziquantel/toxicitéRÉSUMÉ
PURPOSE: The aim of this study was to explore the potential benefits of retinal pigment epithelium replacement therapy in patients with Bietti crystalline dystrophy (BCD) by assessing the disease pathology with the distinctive relationship between fundus autofluorescence (FAF) abnormality and visual field defect. METHODS: Sixteen eyes from 16 patients with BCD and 16 eyes from 16 patients with RHO-associated retinitis pigmentosa were included. Fundus autofluorescence, optical coherence tomography, and Goldmann perimetry results were retrospectively reviewed and assessed using image analyses. RESULTS: In patients with BCD, the FAF abnormality area was not correlated with the overall visual field defect area and median overall visual field defect area (57.5%) was smaller than FAF abnormality area (98.5%). By contrast, the ellipsoid zone width was significantly correlated with the central visual field area (r = 0.806, P < 0.001). In patients with RHO-associated retinitis pigmentosa, the FAF abnormality area and ellipsoid zone width were significantly correlated with the overall visual field defect area (r = 0.833, P < 0.001) and central visual field area (r = 0.887, P < 0.001), respectively. CONCLUSION: The FAF abnormality shown in patients with BCD involves retinal pigment epithelium degeneration without complete loss of photoreceptors or visual function. These results suggest that patients with BCD are good candidates for retinal pigment epithelium replacement therapy for preservation of residual visual function.
Sujet(s)
Dystrophies héréditaires de la cornée , Angiographie fluorescéinique , Fond de l'oeil , Épithélium pigmentaire de la rétine , Tomographie par cohérence optique , Acuité visuelle , Tests du champ visuel , Champs visuels , Humains , Champs visuels/physiologie , Femelle , Mâle , Études rétrospectives , Adulte d'âge moyen , Tomographie par cohérence optique/méthodes , Dystrophies héréditaires de la cornée/diagnostic , Dystrophies héréditaires de la cornée/physiopathologie , Angiographie fluorescéinique/méthodes , Adulte , Épithélium pigmentaire de la rétine/anatomopathologie , Sujet âgé , Acuité visuelle/physiologie , Rétinopathies/diagnostic , Rétinopathies/physiopathologie , Troubles de la vision/physiopathologie , Troubles de la vision/diagnostic , Imagerie optique , Rétinite pigmentaire/physiopathologie , Rétinite pigmentaire/diagnostic , Jeune adulteRÉSUMÉ
Retinal images play a pivotal contribution to the diagnosis of various ocular conditions by ophthalmologists. Extensive research was conducted to enable early detection and timely treatment using deep learning algorithms for retinal fundus images. Quick diagnosis and treatment planning can be facilitated by deep learning models' ability to process images rapidly and deliver outcomes instantly. Our research aims to provide a non-invasive method for early detection and timely eye disease treatment using a Convolutional Neural Network (CNN). We used a dataset Retinal Fundus Multi-disease Image Dataset (RFMiD), which contains various categories of fundus images representing different eye diseases, including Media Haze (MH), Optic Disc Cupping (ODC), Diabetic Retinopathy (DR), and healthy images (WNL). Several pre-processing techniques were applied to improve the model's performance, such as data augmentation, cropping, resizing, dataset splitting, converting images to arrays, and one-hot encoding. CNNs have extracted extract pertinent features from the input color fundus images. These extracted features are employed to make predictive diagnostic decisions. In this article three CNN models were used to perform experiments. The model's performance is assessed utilizing statistical metrics such as accuracy, F1 score, recall, and precision. Based on the results, the developed framework demonstrates promising performance with accuracy rates of up to 89.81% for validation and 88.72% for testing using 12-layer CNN after Data Augmentation. The accuracy rate obtained from 20-layer CNN is 90.34% for validation and 89.59% for testing with Augmented data. The accuracy obtained from 20-layer CNN is greater but this model shows overfitting. These accuracy rates suggested that the deep learning model has learned to distinguish between different eye disease categories and healthy images effectively. This study's contribution lies in providing a reliable and efficient diagnostic system for the simultaneous detection of multiple eye diseases through the analysis of color fundus images.
Sujet(s)
Apprentissage profond , Diagnostic précoce , , Rétinopathies , Humains , Rétinopathies/diagnostic , Rétinopathies/imagerie diagnostique , Rétinopathie diabétique/diagnostic , Rétinopathie diabétique/imagerie diagnostique , Fond de l'oeil , Algorithmes , Rétine/imagerie diagnostique , Rétine/anatomopathologie , Traitement d'image par ordinateur/méthodesRÉSUMÉ
SARS-CoV-2 infection has been associated with the increased incidence of acute macular neuroretinopathy (AMN), an infrequent ocular disorder. However, the precise mechanisms underpinning AMN in the context of SARS-CoV-2 infection (AMN-SARS-CoV-2) remain elusive. In this case-control study, 14 patients diagnosed with AMN-SARS-CoV-2 between 2022/12 and 2023/3 were enrolled and compared with 14 SARS-CoV-2-infected individuals without AMN, who served as controls (SARS-CoV-2-no AMN). Metabolomic profiling using ultrahigh-performance liquid chromatography-online electrospray mass spectrometry revealed significant alterations in serum metabolites in AMN-SARS-CoV-2 patients. Coagulation abnormalities were observed in AMN-SARS-CoV-2 patients, and their relationship with metabolic disorders was studied. Finally, a predictive model for AMN-SARS-CoV-2 was established. Seventy-six upregulated and 42 downregulated metabolites were identified in AMN-SARS-CoV-2 cases. Notably, arginine metabolism within the urea cycle was significantly altered, evidenced by variations in ornithine, citrulline, l-proline, and ADAM levels, correlating with abnormal coagulation markers like platelet crit, fibrinogen degradation product, and fibrinogen. Additionally, increased arginase 1 (AGR1) activity within the urea cycle and reduced nitric oxide synthase activity were observed in AMN-SARS-CoV-2. The integration of urea cycle metabolite levels with coagulation parameters yielded a robust discriminatory model for AMN-SARS-CoV-2, as evidenced by an area under the curve of 0.96. The findings of the present study enhance our comprehension of the underlying metabolic mechanisms associated with AMN-SARS-CoV-2 and offer potential diagnostic markers for this uncommon ocular disorder within the context of SARS-CoV-2 infection.
Sujet(s)
COVID-19 , SARS-CoV-2 , Humains , COVID-19/sang , COVID-19/diagnostic , COVID-19/métabolisme , Études cas-témoins , Mâle , Femelle , Adulte d'âge moyen , Adulte , Métabolomique/méthodes , Sujet âgé , Coagulation sanguine , Rétinopathies/virologie , Rétinopathies/sang , Rétinopathies/diagnosticRÉSUMÉ
PURPOSE: To assess the quality of hydroxychloroquine (HCQ)-induced retinopathy screening at a Canadian tertiary center, we concentrate on risk factor documentation within the electronic health record, in accordance with the 2016 AAO guidelines. METHODS: We performed a retrospective quality assessment study based on chart review of patients who underwent screening for HCQ-induced retinopathy at the Centre Hospitalier de l'Université de Montréal (CHUM) from 2016 to 2019. We evaluated four key risk factors for HCQ-induced retinopathy: daily dose, duration of use, renal disease, and tamoxifen use, using a three-tier grading system (ideal, adequate, inadequate) for documentation assessment. Pareto and root cause analyses were conducted to identify potential improvement solutions. RESULTS: Documentation quality varied in our study: daily dosage was 33% ideal, 31% appropriate, and 36% inappropriate. Duration of use documentation was 75% ideal, 2% adequate, and 24% inadequate. Renal disease documentation was only 6% ideal, with 62% adequate and 32% of charts lacking any past medical history. Among women's charts, tamoxifen use wasn't documented at all, with 65% adequately documenting medication lists. Pareto analysis indicated that improving renal disease and tamoxifen documentation could reduce 64% of non-ideal records, and enhancing daily dose documentation could decrease this by up to 90%. CONCLUSION: Accurate documentation of key risk factors is critical for HCQ-induced retinopathy screening, impacting both exam initiation and frequency. Our study identifies potential improvements in the screening process at the hospital, referring physician, and ophthalmologist levels. Implementing integrated pathways could enhance patient experience and screening effectiveness.
Sujet(s)
Antirhumatismaux , Hôpitaux d'enseignement , Hydroxychloroquine , Rétinopathies , Humains , Hydroxychloroquine/effets indésirables , Hydroxychloroquine/administration et posologie , Études rétrospectives , Femelle , Rétinopathies/induit chimiquement , Rétinopathies/diagnostic , Mâle , Adulte d'âge moyen , Antirhumatismaux/effets indésirables , Antirhumatismaux/administration et posologie , Canada , Sujet âgé , Facteurs de risque , Dépistage de masse/méthodes , AdulteRÉSUMÉ
The purpose of this study was to assess the added diagnostic value of whole genome sequencing (WGS) for patients with inherited retinal diseases (IRDs) who remained undiagnosed after whole exome sequencing (WES). WGS was performed for index patients in 66 families. The datasets were analyzed according to GATK's guidelines. Additionally, DeepVariant was complemented by GATK's workflow, and a novel structural variant pipeline was developed. Overall, a molecular diagnosis was established in 19/66 (28.8%) index patients. Pathogenic deletions and one deep-intronic variant contributed to the diagnostic yield in 4/19 and 1/19 index patients, respectively. The remaining diagnoses (14/19) were attributed to exonic variants that were missed during WES analysis due to bioinformatic limitations, newly described loci, or unclear pathogenicity. The added diagnostic value of WGS equals 5/66 (9.6%) for our cohort, which is comparable to previous studies. This figure would decrease further to 1/66 (1.5%) with a standardized and reliable copy number variant workflow during WES analysis. Given the higher costs and limited added value, the implementation of WGS as a first-tier assay for inherited eye disorders in a diagnostic laboratory remains untimely. Instead, progress in bioinformatic tools and communication between diagnostic and clinical teams have the potential to ameliorate diagnostic yields.
Sujet(s)
Dépistage génétique , Rétinopathies , Séquençage du génome entier , Humains , Rétinopathies/génétique , Rétinopathies/diagnostic , Dépistage génétique/méthodes , Séquençage du génome entier/méthodes , Mâle , Femelle , Suisse , Études de cohortes , Adulte , Variations de nombre de copies de segment d'ADN , /méthodes , Biologie informatique/méthodes , Adulte d'âge moyen , Enfant , Adolescent , PedigreeRÉSUMÉ
Poppers maculopathy is a complication of alkyl nitrate (poppers) inhalation. It presents with non-specific symptoms and variable signs, which can make it difficult to diagnose. We present a case of coexisting cataract and poppers maculopathy in a patient. He had vague visual symptoms that were attributed entirely to his cataract and he went on to have cataract surgery. Suboptimal postoperative visual acuity and normal clinical examination triggered further investigation with spectral-domain optical coherence tomography (SD-OCT), after which poppers maculopathy was diagnosed. We highlight the importance of performing OCT in the preoperative assessment of a cataract patient, especially where the cataract is mild and may not fully account for symptoms. The patient showed complete visual recovery on drug cessation despite ongoing maculopathy on OCT scans.