RESUMO
High-quality imaging of the retina is crucial to the diagnosis and monitoring of disease, as well as for evaluating the success of therapeutics in human patients and in preclinical animal models. Here, we describe the basic principles and methods for in vivo retinal imaging in rodents, including fundus imaging, fluorescein angiography, optical coherence tomography, fundus autofluorescence, and infrared imaging. After providing a concise overview of each method and detailing the retinal diseases and conditions that can be visualized through them, we will proceed to discuss the advantages and disadvantages of each approach. These protocols will facilitate the acquisition of optimal images for subsequent quantification and analysis. Additionally, a brief explanation will be given regarding the potential results and the clinical significance of the detected abnormalities.
Assuntos
Modelos Animais de Doenças , Angiofluoresceinografia , Retina , Doenças Retinianas , Tomografia de Coerência Óptica , Animais , Tomografia de Coerência Óptica/métodos , Doenças Retinianas/diagnóstico por imagem , Doenças Retinianas/patologia , Doenças Retinianas/diagnóstico , Retina/diagnóstico por imagem , Retina/patologia , Angiofluoresceinografia/métodos , Camundongos , Ratos , Roedores , Imagem Óptica/métodos , Humanos , Fundo de OlhoRESUMO
Purpose: During the non-attack period, people with migraine may show retinal dysfunction. This study builds on previous work by exploring the possibility of foveal and non-foveal visual field and electroretinographic deficits and determining the overlap in eccentricity of such localized visual deficits in people with migraine. Methods: Visual fields and multifocal electroretinography (mf-ERG) were tested in 27 people with migraine (aged 19-45 years) and 18 non-headache controls (aged 20-46 years). Data were averaged according to 5 concentric rings at < 1.5 degrees (foveal) and 5 degrees, 10 degrees, 15.5 degrees, and 22 degrees eccentricities (non-foveal). Linear mixed effects modelling was used to predict mf-ERG amplitude, mf-ERG peak time, and visual field sensitivity with fixed effects of eye, group, and eccentricity. Results: Foveal mf-ERG responses, and visual field sensitivity across all eccentricities (foveal and non-foveal) were similar between the migraine and control groups (P > 0.05). In contrast, the non-foveal mf-ERG was reduced in amplitude in people with migraine relative to controls (P < 0.001), and this group difference depended on eccentricity (P < 0.001) - most prominently, in the parafoveal region (ring 2, P = 0.001). Conclusions: Retinal electrophysiological deficits were observed in people with migraine in the parafoveal region (between 1.5 degrees and 5 degrees eccentricity), without corresponding visual field deficits. This suggests a spatially localized area of retinal neuronal dysfunction in people with migraine that is insufficient to manifest as a visual field sensitivity loss using standard perimetric methods. Our study highlights the added confound of migraine when conducting standard clinical retinal electrophysiological tests for conditions such as glaucoma, particularly non-foveally.
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Eletrorretinografia , Transtornos de Enxaqueca , Retina , Campos Visuais , Humanos , Adulto , Eletrorretinografia/métodos , Transtornos de Enxaqueca/fisiopatologia , Campos Visuais/fisiologia , Masculino , Pessoa de Meia-Idade , Feminino , Adulto Jovem , Retina/fisiopatologia , Testes de Campo Visual/métodos , Doenças Retinianas/fisiopatologia , Doenças Retinianas/diagnóstico , Transtornos da Visão/fisiopatologiaRESUMO
Optic neuritis is an important cause of unilateral and acute visual loss in young adults, but other differential diagnoses should be considered, especially when the disease has an atypical presentation. This report presents the case of a young woman with reduced visual acuity in her right eye, associated with optic disc edema and a relative afferent pupillary defect, that was initially misdiagnosed as optic neuritis and subsequently found to have paracentral acute middle maculopathy, possibly secondary to subtle impending central retinal vein occlusion. This case emphasizes the need to remember that retinal vascular diseases can occasionally mimic optic neuritis. Detailed anamnesis and ophthalmic examination can avoid unnecessary interventions.
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Neurite Óptica , Papiledema , Acuidade Visual , Humanos , Neurite Óptica/diagnóstico , Feminino , Diagnóstico Diferencial , Papiledema/diagnóstico , Tomografia de Coerência Óptica/métodos , Adulto , Doença Aguda , Angiofluoresceinografia/métodos , Doenças Retinianas/diagnósticoRESUMO
BACKGROUD: Systemic lupus erythematosus is an unexplained autoimmune disease involving multiple systems throughout the body, and its ocular changes include dry eye, monocular or binocular visual field defects, vaso-occlusive diseases, or ischemic optic neuropathy. CASE PRESENTATION: This article reports a patient with SLE complicated with bilateral Purtscher like retinopathy, who had a sudden decrease in ocular vision as the first symptom, the autoantibodies related to phospholipid syndrome showed no abnormality, and both anti-dsDNA antibodies and anti-SM antibodies were significantly positive, indicating that anti-dsDNA antibodies and anti-SM antibodies were also important factors in the pathogenesis of Purtscher like retinopathy. CONCLUSION: The close relationship between SLE retinopathy and systemic inflammatory activities and emphasize the importance of systemic immunotherapy.
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Lúpus Eritematoso Sistêmico , Doenças Retinianas , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Feminino , Adulto , Acuidade VisualRESUMO
BACKGROUND: Hydroxychloroquine (HCQ) is widely used to treat various autoimmune diseases but carries a risk of retinal toxicity, particularly with prolonged use. Despite advancements, uncertainty persists regarding optimal screening methods. Recent advances in OCT have enabled early detection of retinal damage, with studies suggesting that thinning of specific retinal layers may be an early indicator of toxicity. However, there is a gap in research on outer nuclear layer (ONL) thinning in HCQ users without apparent retinal toxicity. This information is crucial for improving screening and identifying the ONL as a reliable biomarker for screening. Therefore, this study aimed to investigate the association between HCQ intake and ONL damage in eyes without manifest retinal toxicity. METHODS: A caseâcontrol study was conducted at the ophthalmology department of Eye and Ear Hospital International from July 2022 to June 2023. The study included 20 individuals on HCQ and 20 age-matched controls. The data were obtained through chart reviews, and participants underwent comprehensive ophthalmic assessments. RESULTS: A total of 80 eyes were analyzed. Patients on HCQ exhibited significantly thinner perifoveal, parafoveal, and overall ONL compared to controls (P < .001, P < .012, and P < .004, respectively). Similarly, this association was found in the nasal, inferior, and temporal quadrants of both the inner (region 3: P < .01, region 4: P < .001, and region 5: P < .03) and outer zones (region 7: P < .04, region 8: P < .001, region 9: P < .02), most pronounced in the inferior regions. The cumulative dose was weakly associated with decreased ONL thickness only in the nasal quadrant of the inner zone (region 3: P < .047). Correlation analysis of the initial and most recent OCT scans in the same individuals revealed a weak association with ONL thinning in the central zone (region 1: P < .0048). CONCLUSION: The thickness of the ONL can significantly decrease in patients taking HCQ, even in the absence of of manifest retinal toxicity. This study is the first to evaluate this association in eyes with negative screening and diagnostic tests for HCQ retinopathy. The findings suggest that ONL thickness could serve as an early diagnostic indicator for HCQ retinal toxicity.
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Antirreumáticos , Hidroxicloroquina , Retina , Tomografia de Coerência Óptica , Humanos , Hidroxicloroquina/efeitos adversos , Hidroxicloroquina/toxicidade , Feminino , Masculino , Pessoa de Meia-Idade , Estudos de Casos e Controles , Tomografia de Coerência Óptica/métodos , Antirreumáticos/efeitos adversos , Antirreumáticos/toxicidade , Retina/efeitos dos fármacos , Retina/patologia , Retina/diagnóstico por imagem , Adulto , Doenças Retinianas/induzido quimicamente , Doenças Retinianas/diagnóstico , Idoso , Estudos Retrospectivos , Acuidade VisualRESUMO
The incorporation of gold nanoparticles (GNPs) into retinal imaging signifies a notable advancement in ophthalmology, offering improved accuracy in diagnosis and patient outcomes. This review explores the synthesis and unique properties of GNPs, highlighting their adjustable surface plasmon resonance, biocompatibility, and excellent optical absorption and scattering abilities. These features make GNPs advantageous contrast agents, enhancing the precision and quality of various imaging modalities, including photoacoustic imaging, optical coherence tomography, and fluorescence imaging. This paper analyzes the unique properties and corresponding mechanisms based on the morphological features of GNPs, highlighting the potential of GNPs in retinal disease diagnosis and management. Given the limitations currently encountered in clinical applications of GNPs, the approaches and strategies to overcome these limitations are also discussed. These findings suggest that the properties and efficacy of GNPs have innovative applications in retinal disease imaging.
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Ouro , Nanopartículas Metálicas , Imagem Óptica , Retina , Tomografia de Coerência Óptica , Ouro/química , Nanopartículas Metálicas/química , Humanos , Imagem Óptica/métodos , Retina/diagnóstico por imagem , Retina/metabolismo , Tomografia de Coerência Óptica/métodos , Doenças Retinianas/diagnóstico por imagem , Doenças Retinianas/diagnóstico , Animais , Imagem Molecular/métodos , Meios de Contraste/químicaRESUMO
Artificial intelligence (AI) has already found its way into ophthalmology, with the first approved algorithms that can be used in clinical routine. Retinal diseases in particular are proving to be an important area of application for AI, as they are the main cause of blindness and the number of patients suffering from retinal diseases is constantly increasing. At the same time, regular imaging using high-resolution modalities in a standardised and reproducible manner generates immense amounts of data that can hardly be processed by human experts. In addition, ophthalmology is constantly experiencing new developments and breakthroughs that require a re-evaluation of patient management in routine clinical practice. AI is able to analyse these volumes of data efficiently and objectively and also provide new insights into disease progression and therapeutic mechanisms by identifying relevant biomarkers. AI can make a significant contribution to screening, classification and prognosis of various retinal diseases and can ultimately be a clinical decision support system, that significantly reduces the burden on both everyday clinical practice and the healthcare system, by making more efficient use of costly and time-consuming resources.
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Inteligência Artificial , Doenças Retinianas , Humanos , Doenças Retinianas/diagnóstico , Doenças Retinianas/terapia , AlgoritmosRESUMO
PURPOSE: This study evaluates a large language model, Generative Pre-trained Transformer 4 with vision, for diagnosing vitreoretinal diseases in real-world ophthalmology settings. METHODS: A retrospective cross-sectional study at Bascom Palmer Eye Clinic, analyzing patient data from January 2010 to March 2023, assesses Generative Pre-trained Transformer 4 with vision's performance on retinal image analysis and International Classification of Diseases 10th revision coding across 2 patient groups: simpler cases (Group A) and complex cases (Group B) requiring more in-depth analysis. Diagnostic accuracy was assessed through open-ended questions and multiple-choice questions independently verified by three retina specialists. RESULTS: In 256 eyes from 143 patients, Generative Pre-trained Transformer 4-V demonstrated a 13.7% accuracy for open-ended questions and 31.3% for multiple-choice questions, with International Classification of Diseases 10th revision code accuracies at 5.5% and 31.3%, respectively. Accurately diagnosed posterior vitreous detachment, nonexudative age-related macular degeneration, and retinal detachment. International Classification of Diseases 10th revision coding was most accurate for nonexudative age-related macular degeneration, central retinal vein occlusion, and macular hole in OEQs, and for posterior vitreous detachment, nonexudative age-related macular degeneration, and retinal detachment in multiple-choice questions. No significant difference in diagnostic or coding accuracy was found in Groups A and B. CONCLUSION: Generative Pre-trained Transformer 4 with vision has potential in clinical care and record keeping, particularly with standardized questions. Its effectiveness in open-ended scenarios is limited, indicating a significant limitation in providing complex medical advice.
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Inteligência Artificial , Doenças Retinianas , Humanos , Estudos Transversais , Estudos Retrospectivos , Feminino , Masculino , Doenças Retinianas/diagnóstico , Pessoa de Meia-Idade , Idoso , Retina/diagnóstico por imagem , Tomografia de Coerência Óptica/métodosRESUMO
PURPOSE: Antiretroviral therapy has revolutionized HIV treatment with didanosine (DDI) as a pioneering drug. However, DDI has been associated with retinal toxicity, characterized by peripheral chorioretinal degeneration with macular sparing. Despite its clinical recognition, the prevalence and risk factors for didanosine-induced retinopathy are not well described. METHODS: This retrospective case series analyzed 127 DDI-treated patients at Weill Cornell Medicine Department of Ophthalmology. Inclusion criteria included at least 6 months of DDI use and available ultra-widefield imaging. Patients were categorized as affected or unaffected based on retinal imaging assessed by two reviewers. The affected group was further divided into "probable" or "possible" retinopathy. Patient demographics, DDI usage characteristics, and imaging findings were analyzed with statistical comparisons drawn between affected and unaffected cohorts. RESULTS: Of the 127 patients, 9 (7%) showed signs of didanosine-induced retinal toxicity. On average, the affected group was older compared with the unaffected group (65.1 vs. 56.5 years, P = 0.025), with lower BMI (23.2 vs. 27.4, P = 0.04), and older at the start of the treatment (51.6 vs. 40.8 years, P = 0.026). Mild phenotypes with peripheral pigmentary changes were also identified using ultra-widefield imaging. CONCLUSION: This pioneering academic study highlighted a notable prevalence of DDI-induced retinal toxicity. Statistical analysis demonstrated age, BMI, and age at treatment initiation as potential risk factors. Ultra-widefield autofluorescence emerged as a valuable tool in detecting and delineating findings. Follow-up studies are needed to determine the necessity of regular screening for individuals on or with a history of didanosine use.
Assuntos
Fármacos Anti-HIV , Didanosina , Infecções por HIV , Doenças Retinianas , Humanos , Didanosina/efeitos adversos , Estudos Retrospectivos , Masculino , Feminino , Pessoa de Meia-Idade , Prevalência , Idoso , Doenças Retinianas/induzido quimicamente , Doenças Retinianas/diagnóstico , Doenças Retinianas/epidemiologia , Fármacos Anti-HIV/efeitos adversos , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Adulto , Fatores de Risco , Centros Médicos Acadêmicos , Retina/efeitos dos fármacos , Retina/diagnóstico por imagem , Retina/patologia , Angiofluoresceinografia/métodos , Tomografia de Coerência Óptica/métodosRESUMO
PURPOSE: This study was performed to assess the prevalence of the vascularized foveal zone, including macular-foveal capillaries (MFC) and congenital retinal macrovessels (CRM), and to analyze the structural characteristics of the macular area in patients with MFC. MATERIAL AND METHODS: The first phase of the study evaluated the prevalence of MFC and CRM. Optical coherence tomography angiography (OCT-A) was performed, and OCT-A images of the foveal avascular zone were analyzed. In the second phase, two groups were formed: the MFC group (12 eyes, 9 patients, mean age 43.8±10.7 years) and the control group (18 eyes, 17 patients, mean age 43.0±11.8 years). A comparative analysis was performed assessing central retinal thickness (CRT), thickness of retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), and foveal pit depth. RESULTS: MFCs were detected in 45 eyes from a total sample of 1031 eyes of 536 patients. The presence of CRM was recorded in three eyes of three patients. RNFL thickness was significantly higher in the MFC group in the inferior parafoveal sector (26.50 [26.00; 29.50] and 24.50 [21.75; 26.50] µm; p=0.022) and in the foveal zone (15.50 [14.00; 16.00] and 12.00 [11.00; 14.00] µm; p=0.017). Additionally, patients with MFC had a higher thickness of GCL and IPL in the fovea, inferior, nasal, and temporal parafoveal sectors. The depth of the foveal pit was significantly lower in the MFC group compared to the control group (83.0 [77.4; 101.6] and 128.0 [107.5; 147.05] µm; p=0.001). CONCLUSION: The prevalence of MFC was 4.36% (calculated per number of eyes), while the prevalence of CRM - 0.29%. The macular area in patients with MFC had increased thickness of the inner retinal layers and decreased depth of the foveal pit, suggesting potential disruption in the natural process of ganglion cell migration and apoptosis during embryogenesis.
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Fóvea Central , Vasos Retinianos , Tomografia de Coerência Óptica , Humanos , Fóvea Central/irrigação sanguínea , Fóvea Central/diagnóstico por imagem , Adulto , Feminino , Masculino , Tomografia de Coerência Óptica/métodos , Prevalência , Pessoa de Meia-Idade , Vasos Retinianos/diagnóstico por imagem , Capilares/diagnóstico por imagem , Capilares/patologia , Doenças Retinianas/epidemiologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Federação Russa/epidemiologia , Acuidade Visual , Angiofluoresceinografia/métodosRESUMO
PURPOSE: To assess structural (optical coherence tomography, fundus autofluorescence) and functional (contrast sensitivity and visual field) test results which were used for detecting early retinal changes in patients using oral hydroxychloroquine. METHODS: Patients using oral hydroxychloroquine for at least one year were divided into two groups according to the duration of drug use. Groups 1 and 2 consisted of patients with drug use for more than 5 years and 1-5 years, respectively. The drug-using groups were compared with the control group. The mean retinal nerve fiber layer (RNFL), central macular thickness (CMT), ganglion cell-inner plexiform layer (GC-IPL), static 10-2 visual field, fundus autofluorescence (FAF) imaging, and contrast sensitivity tests were performed and statistically compared between groups. RESULTS: Median and temporal quadrant RNFL thicknesses were found to be statistically significantly lower in the drug groups. In the drug groups, the GC-IPL sectoral and mean thicknesses were found to be statistically lower in all quadrants. Central macular thickness was also found to be similar in all three groups. There was no significant difference between the groups in visual field parameters. Macular FAF images were significantly higher in the drug users, but there was no significant difference between the three groups in foveal FAF images. Contrast sensitivity measurements were significantly lower in the drug groups than in the control group at all spatial frequencies except 6 and 18 cycles/degree. CONCLUSIONS: The combined use of structural and functional tests in patients using hydroxychloroquine provides useful information in detecting early retinal changes.
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Antirreumáticos , Sensibilidades de Contraste , Diagnóstico Precoce , Angiofluoresceinografia , Hidroxicloroquina , Macula Lutea , Doenças Retinianas , Células Ganglionares da Retina , Tomografia de Coerência Óptica , Campos Visuais , Humanos , Hidroxicloroquina/efeitos adversos , Tomografia de Coerência Óptica/métodos , Feminino , Masculino , Campos Visuais/fisiologia , Campos Visuais/efeitos dos fármacos , Pessoa de Meia-Idade , Antirreumáticos/efeitos adversos , Doenças Retinianas/induzido quimicamente , Doenças Retinianas/diagnóstico , Macula Lutea/efeitos dos fármacos , Macula Lutea/patologia , Macula Lutea/diagnóstico por imagem , Células Ganglionares da Retina/patologia , Células Ganglionares da Retina/efeitos dos fármacos , Sensibilidades de Contraste/fisiologia , Sensibilidades de Contraste/efeitos dos fármacos , Angiofluoresceinografia/métodos , Adulto , Fibras Nervosas/patologia , Fibras Nervosas/efeitos dos fármacos , Acuidade Visual , Testes de Campo Visual/métodos , IdosoRESUMO
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.
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Extração de Catarata , Doenças Retinianas , Tomografia de Coerência Óptica , Humanos , Tomografia de Coerência Óptica/métodos , Estudos Retrospectivos , Idoso , Pessoa de Meia-Idade , Masculino , Feminino , Idoso de 80 Anos ou mais , Doenças Retinianas/diagnóstico , Doenças Retinianas/diagnóstico por imagem , Adulto , Acuidade Visual , Catarata/diagnóstico , Catarata/complicações , Catarata/diagnóstico por imagem , Cuidados Pré-Operatórios/métodosAssuntos
Coloboma , Disco Óptico , Humanos , Coloboma/complicações , Coloboma/diagnóstico , Coloboma/diagnóstico por imagem , Disco Óptico/anormalidades , Disco Óptico/diagnóstico por imagem , Masculino , Tomografia de Coerência Óptica , Feminino , Doenças Retinianas/complicações , Doenças Retinianas/diagnóstico , Doenças Retinianas/diagnóstico por imagemRESUMO
Importance: Previous studies have identified familial exudative vitreoretinonpathy (FEVR) in patients with CTNNB1 syndrome based on severe congenital ocular phenotypes. However, ophthalmoscopy may not be sufficient to detect vision-threatening vitreoretinopathy in all patients. Objective: To report a consecutive retrospective case series of 11 patients with CTNNB1 variants who had previously unremarkable ophthalmoscopic examination results and to describe their detailed ophthalmic phenotypes. Design, Setting, and Participants: This retrospective case series was conducted at the Children's Hospital of Philadelphia from October 2022 to November 2023 among patients with identified variants in CTNNB1 and previously documented normal results in office retinal examinations. These consecutive patients subsequently underwent an examination under anesthesia with fluorescein angiography. Detailed genotype information was analyzed for all patients, and each variant was mapped on the CTNNB1 gene to observe any associations with severity of vitreoretinopathy. Main Outcomes and Measures: Number of patients with vitreoretinopathy and number requiring treatment for vitreoretinopathy. Results: The mean (SD) age at the time of CTNNB1 syndrome diagnosis was 2 (1) years, and the mean (SD) age at examination was 6 (3) years for the 11 total patients. A total of 9 patients had a diagnosis of strabismus, and 5 patients had undergone strabismus surgery. FEVR was present in 5 of 11 patients and in 9 eyes. The presence of disease requiring treatment was identified in 6 eyes, including 1 retinal detachment. Detailed genotype analysis of the patients found no clearly delineated high-risk loci in CTNNB1 in association with high severity of FEVR. Conclusions and Relevance: In this case series study, nearly all patients with CTNNB1 syndrome required ophthalmic care for refractive error and strabismus, and a subset also required treatment for FEVR. These findings support consideration of ultra-widefield fluorescein angiography among individuals with CTNNB1 syndrome when feasible, including the use of sedation if such an assessment is not possible in the office setting.
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Vitreorretinopatias Exsudativas Familiares , Angiofluoresceinografia , beta Catenina , Humanos , beta Catenina/genética , Masculino , Estudos Retrospectivos , Feminino , Pré-Escolar , Criança , Vitreorretinopatias Exsudativas Familiares/diagnóstico , Angiofluoresceinografia/métodos , Lactente , Oftalmoscopia , Oftalmopatias Hereditárias/genética , Oftalmopatias Hereditárias/diagnóstico , Doenças Retinianas/genética , Doenças Retinianas/diagnóstico , Fenótipo , Acuidade Visual/fisiologia , MutaçãoRESUMO
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.
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Fundo de Olho , Lúpus Eritematoso Sistêmico , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Doenças Retinianas/etiologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/patologia , Doenças da Coroide/etiologia , Doenças da Coroide/diagnósticoRESUMO
PURPOSE: To investigate the pathophysiology and prognostic significance of acute Henle fiber layer (HFL) hyperreflectivity in placoid diseases by examining its relationship with impaired choroidal flow and persistent photoreceptor disruption. METHODS: Retrospective-prospective observational study on patients with placoid diseases. Indocyanine green angiography and optical coherence tomography were performed during the acute phase and follow-up. Impaired choroidal flow, HFL hyperreflectivity, and persistent ellipsoid zone disruption, their colocalization index, and their associations with initial and final visual acuity were explored. RESULTS: Sixteen eyes from eight patients (mean age, 25.3 ± 6.44 years) were included (median follow-up, 13.5 months). Quantitative analysis revealed significant correlations between areas of impaired choroidal flow, HFL hyperreflectivity, and persistent ellipsoid zone disruption (correlation coefficients of 0.69, 0.63, and 0.46, respectively). Impaired choroidal flow area exceeded HFL hyperreflectivity (P = 0.002) and ellipsoid zone disruption (P = 0.003). A noteworthy 94% nonrandom overlap between HFL hyperreflectivity and ellipsoid zone disruption was observed. Worse initial visual acuity correlated with foveal involvement (P = 0.0002), thicker choroid (P = 0.001), larger impaired choroidal flow areas (P = 0.02), and thinner outer retina post lesion inactivation (P = 0.04). CONCLUSION: Henle fiber layer hyperreflectivity predicted photoreceptor recovery potential in placoid diseases. If HFL hyperreflectivity corresponds to acute HFL damage, it may suggest more severe involvement of the entire photoreceptor length.
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Corioide , Angiofluoresceinografia , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Tomografia de Coerência Óptica/métodos , Feminino , Masculino , Adulto , Estudos Retrospectivos , Acuidade Visual/fisiologia , Angiofluoresceinografia/métodos , Estudos Prospectivos , Prognóstico , Adulto Jovem , Corioide/patologia , Corioide/diagnóstico por imagem , Corioide/irrigação sanguínea , Adolescente , Seguimentos , Doenças Retinianas/fisiopatologia , Doenças Retinianas/diagnóstico , Fundo de Olho , Doença AgudaRESUMO
PURPOSE: Evaluating the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO). METHODS: Multicentric retrospective study of RUO cases diagnosed between January 2012 and February 2022. General and ophthalmologic history, complete ophthalmologic examination, antiretinal antibodies, and IRD gene panel results were analyzed in every patient. Four RUO categories were defined: nonparaneoplastic autoimmune retinopathy, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy. RESULTS: The authors included 12 patients (9 females) across these four RUO categories. Mean age at inclusion was 45.6 years (20-68 years). Seven patients demonstrated class 3 variants in IRD genes. Of these, two also demonstrated class 5 variants in other IRD genes. The remaining five patients had negative panel results. IRD gene panel analysis allowed diagnosis refinement in 1 (8.3%) nonparaneoplastic autoimmune retinopathy patient in the RUO cohort. When considering the nonparaneoplastic autoimmune retinopathy subpopulation only, a higher diagnostic yield of 20% (1/5 patients) was achieved. CONCLUSION: Every suspected nonparaneoplastic autoimmune retinopathy patient should benefit from gene panel testing to not overlook undiagnosed IRDs. By contrast, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy subpopulations did not benefit from genetic testing in this study.
Assuntos
Doenças Retinianas , Humanos , Feminino , Estudos Retrospectivos , Masculino , Pessoa de Meia-Idade , Adulto , Doenças Retinianas/genética , Doenças Retinianas/diagnóstico , Idoso , Adulto Jovem , Testes Genéticos/métodos , Mutação , Proteínas do Olho/genéticaRESUMO
Despite the significant advancements facilitated by previous research in introducing a plethora of retinal biomarkers, there is a lack of research addressing the clinical need for quantifying different biomarkers and prioritizing their importance for guiding clinical decision making in the context of retinal diseases. To address this issue, our study introduces a novel framework for quantifying biomarkers derived from optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) images in retinal diseases. We extract 452 feature parameters from five feature types, including local binary patterns (LBP) features of OCT and OCTA, capillary and large vessel features, and the foveal avascular zone (FAZ) feature. Leveraging this extensive feature set, we construct a classification model using a statistically relevant p value for feature selection to predict retinal diseases. We obtain a high accuracy of 0.912 and F1-score of 0.906 in the task of disease classification using this framework. We find that OCT and OCTA's LBP features provide a significant contribution of 77.12% to the significance of biomarkers in predicting retinal diseases, suggesting their potential as latent indicators for clinical diagnosis. This study employs a quantitative analysis framework to identify potential biomarkers for retinal diseases in OCT and OCTA images. Our findings suggest that LBP parameters, skewness and kurtosis values of capillary, the maximum, mean, median, and standard deviation of large vessel, as well as the eccentricity, compactness, flatness, and anisotropy index of FAZ, may serve as significant indicators of retinal conditions.