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PURPOSE: Albinism defines a group of genetic diseases which result from disordered melanin biosynthesis. Proliferative diabetic retinopathy (PDR) results from poorly controlled type 1 or 2 diabetes mellitus (DM) and can lead to blindness due to progressive neovascularisation. However, the treatment of PDR in patients with ocular/oculocutaneous albinism may be more challenging. In this study, we compared a group of patients with albinism and PDR, to a group with albinism and diabetes mellitus but no PDR, to examine the long-term implications. METHODS: Retrospective observational study included all patients with ocular albinism (OA) or oculocutaneous albinism (OCA) and DM who presented at a single specialist centre. Participants were allocated into either group 1 (eyes with PDR) or group 2 (all eyes without PDR). Statistical analysis was performed using SPSS V26.0. Between-group differences were investigated. RESULTS: Outcome data was available for 5 eyes from 3 participants in group 1 and 26 eyes from 13 participants in group 2. Despite interventions, a large and significant difference in vision at follow-up was observed between group 1 and group 2 (mean change in visual acuity: 1.11 (± 1.00) versus - 0.15 (± 0.46), respectively; p = < 0.0001). CONCLUSION: PDR is associated with poor long-term prognosis despite interventions for patients with albinism. Those without PDR appear to maintain stable vision. Alternative treatments for PDR and its complications may be required in this population. Measures to prevent the development of diabetic eye disease and progression towards PDR should be employed at an early stage.
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Albinismo Oculocutâneo , Albinismo , Diabetes Mellitus , Retinopatia Diabética , Hiperopia , Albinismo Oculocutâneo/complicações , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Retinopatia Diabética/complicações , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/epidemiologia , Humanos , Neovascularização Patológica , Acuidade VisualRESUMO
PURPOSE: To report the visual acuity measures from the macular telangiectasia type 2 (MacTel) registry and to investigate and describe phenotypic findings in eyes with substantial vision loss resulting from MacTel. DESIGN: Cross-sectional multicenter study. PARTICIPANTS: Participants in the MacTel Natural History Observation Registration Study. METHODS: Best-corrected visual acuity (BCVA) data, retinal imaging data, and clinical data were accessed from the MacTel Study databases in May 2019. MAIN OUTCOME MEASURES: Frequency distribution of BCVA and its relationship to age; morphologic changes in eyes with very late disease stages, defined by a BCVA of 20/200 or worse; average retinal thickness of macular subfields on OCT; and dimensions of the area affected by MacTel (i.e., the MacTel area). RESULTS: Best-corrected visual acuity was 20/50 or worse in 37.3% and 20/200 or worse in 3.8% of 4449 eyes of 2248 patients; 18.4% and 0.7% of all patients showed bilateral BCVA of 20/50 or worse and 20/200 or worse, respectively. Asymmetry between right and left eyes was present (median BCVA, 71 letters vs. 74 letters), a finding supported by more advanced morphologic changes in right eyes. Participant age correlated with BCVA, but the effect size was small. If a neovascularization or macular hole were present, bilateral occurrence was frequent (33% or 17%, respectively), and BCVA was better than 20/200 (79% or 78%, respectively) or 20/50 or better (26% or 13%, respectively). Eyes with advanced disease (BCVA, ≤20/200) showed the following characteristics: (1) atrophy of the foveal photoreceptor layer with or without associated subretinal fibrosis; (2) an affected area, termed MacTel area, limited to a horizontal diameter not exceeding the distance between the temporal optic disc margin and foveal center, and the vertical diameter not exceeding approximately 0.8 times this distance (exceptions were eyes with large active or inactive neovascular membranes); (3) reduced retinal thickness measures within the MacTel area; and (4) less frequent retinal greying and more frequent hyperpigmentations compared with eyes that have better BCVA. CONCLUSIONS: Severe vision loss is rare in MacTel and is related to photoreceptor atrophy in most people. Results indicate disease asymmetry with slightly worse vision and more advanced disease manifestation in right eyes. MacTel-related neurodegeneration does not spread beyond the limits of the MacTel area.
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Angiofluoresceinografia/métodos , Fóvea Central/patologia , Telangiectasia Retiniana/fisiopatologia , Acuidade Visual , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Telangiectasia Retiniana/diagnóstico , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: To compare fundus fluorescein angiography (FFA) and swept-source optical coherence tomography angiography (SS-OCTA) in the evaluation of macular perfusion in diabetic patients. METHODS: Forty-one eyes (21 diabetic patients) seen at Moorfields Eye Hospital (London) over a 1-month interval underwent color fundus photography, FFA, and SS-OCTA imaging of the capillary superficial plexus using 2 different protocols: 3 × 3 mm and 4.5 × 4.5 mm. Quantitative assessment (foveal avascular zone diameters and area), qualitative analysis (macroscopic and microscopic levels) and Early Treatment Diabetic Retinopathy Study diabetic macular ischemia grading were performed. Artifacts were recorded. Intraclass correlation coefficients and weighted kappa values were calculated. RESULTS: Mean (SD) foveal avascular zone area was 0.695 (0.52) mm on FFA, 0.627 (0.54) mm on SS-OCTA 3 × 3 and 0.701 (0.54) mm on SS-OCTA 4.5 × 4.5 protocol. Intraclass correlation coefficients showed good agreement between FFA and SS-OCTA for both vertical diameter and foveal avascular zone area measurements. The agreement between SS-OCTA 3 × 3 and 4.5 × 4.5 was good for all quantitative measurements. Weighted kappa for diabetic macular ischemia grading showed low to fair agreement between FFA and SS-OCTA, whereas the agreement was good between two different SS-OCTA protocols. CONCLUSION: Swept-source OCTA is a reproducible technique in the assessment of macular perfusion in diabetic patients with special regards to foveal avascular zone analysis. The agreement with FFA is limited especially for diabetic macular ischemia grading. Fundus fluorescein angiography is more sensitive in identifying microaneurysms.
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Retinopatia Diabética/diagnóstico , Angiofluoresceinografia/métodos , Macula Lutea/irrigação sanguínea , Fluxo Sanguíneo Regional/fisiologia , Vasos Retinianos/fisiopatologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Retinopatia Diabética/fisiopatologia , Feminino , Seguimentos , Fundo de Olho , Humanos , Macula Lutea/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Curva ROC , Vasos Retinianos/diagnóstico por imagem , Estudos RetrospectivosRESUMO
PURPOSE: To investigate retinal microcystoid spaces in macular telangiectasia type 2 with spectral domain optical coherence tomography. METHODS: Retrospective review of 135 patients enrolled in the MacTel Natural History Observation and Registry Study at Moorfields Eye Hospital, United Kingdom. One hundred seventy-two eyes from 86 patients who had a comparable scan protocol of at least 30 µm interval were included for analysis. Retinal microcystoid spaces were identified and segmented and metrics analyzed. RESULTS: From 172 eyes of 86 patients, microcystoid spaces were found in 11 eyes (6.4%) from 8 patients (9.3%). The mean number of microcystoid spaces per eye was 12.9 ± 18.2. Most were located in the inner nuclear layer. The inferonasal quadrant of the macula was the least commonly affected region. Microcystoid spaces were distributed entirely within the assumed macular telangiectasia area on blue light reflectance in all but 2 eyes (4 of 142 microcysts). The median diameter of the microcystoid spaces was 31 µm (range 15 µm-80 µm). CONCLUSION: Microcystoid spaces as a phenotype of macular telangiectasia should be considered in the differentials for microcystic edema. Understanding the pathogenesis of these lesions may provide further insight into the role of Müller cell dysfunction in this disorder.
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Células Ependimogliais/patologia , Angiofluoresceinografia/métodos , Macula Lutea/patologia , Telangiectasia Hemorrágica Hereditária/diagnóstico , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Fundo de Olho , Humanos , Macula Lutea/fisiopatologia , Edema Macular/diagnóstico , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Retrospectivos , Telangiectasia Hemorrágica Hereditária/fisiopatologiaRESUMO
PURPOSE: In patients with macular telangiectasia Type 2, blue light reflectance imaging reveals an oval, parafoveal area in the macula that has increased reflectance compared with its surrounding. Here, we examine how dark adaptation and photobleaching can affect the blue light reflectance imaging pattern. METHODS: Prospective study of patients with macular telangiectasia enrolled in the MacTel Natural History Observation Study. After dark adaptation, a sequence of images was obtained with a confocal scanning laser ophthalmoscope at 488 nm. Change of reflectance patterns was analyzed over time. RESULTS: Eighteen eyes from 16 patients were analyzed. Initially, increased reflectivity in the parafoveal area resulted in higher gray values compared with the paramacular surrounding on blue light reflectance imaging. The difference between parafoveal and paramacular reflectance intensity decreased steadily during imaging, from 17.7 gray-value units (95% confidence interval: 12.1-23.2) down to 2.8 (95% confidence interval: -0.8 to 6.5) after around 30 seconds, and recovered after 5 minutes of dark adaptation. CONCLUSION: A bleaching effect was evident in our study. Understanding these changes is important for both diagnosis and assessment of blue light reflectance phenotype in patients with macular telangiectasia and could also provide further insights into the pathophysiology of this disease.
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Adaptação à Escuridão/fisiologia , Angiofluoresceinografia/métodos , Luz , Macula Lutea/efeitos da radiação , Fotodegradação , Telangiectasia Hemorrágica Hereditária/fisiopatologia , Tomografia de Coerência Óptica/métodos , Adulto , Idoso , Progressão da Doença , Feminino , Seguimentos , Fundo de Olho , Humanos , Macula Lutea/patologia , Macula Lutea/fisiopatologia , Masculino , Pessoa de Meia-Idade , Oftalmoscopia/métodos , Fenótipo , Estimulação Luminosa , Estudos Prospectivos , Telangiectasia Hemorrágica Hereditária/diagnósticoRESUMO
PURPOSE: To investigate the electrophysiological features of macular telangiectasia Type 2 and their relationship to structure as determined by optical coherence tomography imaging. METHODS: Forty-two eyes from 21 patients enrolled in the Macular Telangiectasia Natural History Observation Study were reviewed. All patients had full-field and pattern electroretinography (ERG; PERG) with some patients additionally having multifocal electroretinography (mfERG; N = 15) or electrooculography (N = 12). Multiple linear regression modeling assessed the relationship between the ellipsoid zone break size on optical coherence tomography and the central mfERG response. RESULTS: Full-field ERG and electrooculography were normal in all eyes. Six eyes (14%) from five patients had subnormal PERG P50 amplitudes. Twenty-two of 30 eyes (73%) had reduced central or paracentral stimulus on mfERG. There was a significant correlation between ellipsoid zone break size and both the P1 amplitude (R = 0.37, P = 0.002) and P1:N1 ratio (R = 0.32, P = 0.002) of the central response on mfERG. CONCLUSION: The electrophysiological findings in macular telangiectasia Type 2 are those of localized central dysfunction and are consistent with the structural data available from imaging and histologic studies. The ellipsoid zone break size correlates with mfERG reduction. The reduced mfERG P1:N1 ratio is consistent with inner retinal dysfunction.
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Eletroculografia/métodos , Eletrorretinografia/métodos , Macula Lutea/patologia , Telangiectasia Retiniana/fisiopatologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Idoso , Feminino , Seguimentos , Humanos , Macula Lutea/fisiopatologia , Masculino , Pessoa de Meia-Idade , Telangiectasia Retiniana/diagnóstico , Estudos RetrospectivosRESUMO
PURPOSE: To describe the features of peripapillary pachychoroid syndrome (PPS), a novel pachychoroid disease spectrum (PDS) entity. METHODS: Medical records of 31 eyes (16 patients) with choroidal thickening associated with intraretinal and/or subretinal fluid in the nasal macula extending from the disk were reviewed (patients with PPS). Choroidal thickness was compared with 2 age-matched cohorts: typical PDS (17 eyes with central serous chorioretinopathy or pachychoroid neovasculopathy) and 19 normal eyes. RESULTS: The patients with PPS were 81% men aged 71 ± 7 years. Peripapillary pachychoroid syndrome eyes displayed thicker nasal versus temporal macular choroids, unlike PDS eyes with thicker temporal macular choroids (P < 0.0001). Peripapillary intraretinal and/or subretinal fluid was often overlying dilated Haller layer vessels (pachyvessels). Fundus autofluorescence and fluorescein angiography illustrated peripapillary pigmentary mottling without focal leakage. Most PPS eyes (70%) exhibited other PDS findings including serous pigment epithelial detachment or gravitational tracks. Indocyanine green angiography illustrated dilated peripapillary pachyvessels and choroidal hyperpermeability. The disk was usually crowded, with edema noted in 4/31 (13%) eyes and mild late fluorescein disk leakage identified in half of the cases. Choroidal folds (77%), short axial lengths (39% less than 23 mm), and hyperopia (86%) were common. CONCLUSION: Peripapillary pachychoroid syndrome is a distinct PDS variant, in which peripapillary choroidal thickening is associated with nasal macular intraretinal and/or subretinal fluid and occasional disk edema. Recognition of PPS is important to distinguish it from disorders with overlapping features such as posterior uveitis and neuro-ophthalmologic conditions.
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Doenças da Coroide/diagnóstico , Corioide/patologia , Angiofluoresceinografia/métodos , Macula Lutea/patologia , Disco Óptico/patologia , Tomografia de Coerência Óptica/métodos , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , SíndromeAssuntos
DNA/genética , Degeneração Macular/genética , Mutação , alfa Catenina/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/metabolismo , Masculino , Pessoa de Meia-Idade , Linhagem , Estudos Retrospectivos , Tomografia de Coerência Óptica , Adulto Jovem , alfa Catenina/metabolismoRESUMO
PURPOSE: To describe spectral domain-optical coherence tomography features of retinal neovascularization in proliferative diabetic retinopathy and thus to identify novel signs of new vessel activity. METHODS: Retrospective, cross-sectional study. Data were collected over a 9-month period. Spectral domain optical coherence tomography scans were performed over areas of new vessel complexes (NVC) in both the disk and elsewhere, and were qualitatively graded by two masked observers. New vessel complexes activity was determined using clinical and angiographic criteria and correlated with spectral domain optical coherence tomography features. RESULTS: Forty-three eyes of 30 patients with proliferative diabetic retinopathy were included. Sixty-one NVC lesions (neovascularization of the disk-37.7%, neovascularization elsewhere-62.3%) were captured by spectral domain-optical coherence tomography and analyzed. Among them, 63.9% were classified as active and 36.1% as quiescent. Five distinctive features were identified as significantly different between active and quiescent NVC: the presence of vitreous hyperreflective dots in active NVC (P = 0.002) and the presence of epiretinal membrane (P = 0.04), inner retinal tissue contracture (P = 0.03), vitreous invasion (P = 0.02), and protrusion towards vitreous (P = 0.002) in quiescent NVC. CONCLUSION: In this exploratory study, the presence of vitreous hyperreflective dots, epiretinal membrane, inner retinal tissue contracture, vitreous invasion, and vitreous protrusion were identified as distinct signs of disease activity. Such parameters may be useful as a noninvasive imaging modality in eyes undergoing treatment for proliferative diabetic retinopathy.
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Retinopatia Diabética/diagnóstico por imagem , Neovascularização Retiniana/diagnóstico por imagem , Vasos Retinianos/patologia , Tomografia de Coerência Óptica , Idoso , Estudos Transversais , Retinopatia Diabética/complicações , Membrana Epirretiniana/diagnóstico por imagem , Reações Falso-Positivas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Neovascularização Retiniana/etiologia , Estudos Retrospectivos , Sensibilidade e Especificidade , Acuidade VisualRESUMO
PURPOSE: To evaluate the application of an optical coherence tomography angiography (OCTA) system adapted for the assessment of anterior segment vasculature. DESIGN: Cross-sectional, observational study. PARTICIPANTS: Consecutive subjects with normal eyes on slit-lamp clinical examination and patients with abnormal corneal neovascularization. METHODS: All scans were performed using a commercially available AngioVue OCTA system (Optovue, Inc., Fremont, CA) using an anterior segment lens adapter and the split-spectrum amplitude decorrelation angiography algorithm. Each subject underwent scans from 4 quadrants (superior, inferior, nasal, and temporal) in each eye by 2 trained, independent operators. MAIN OUTCOME MEASURES: Analysis of signal strength, image quality, and reproducibility of corneal vascular measurements was performed. RESULTS: In our study of 20 normal subjects (10 men, 10 women; mean age, 25.3±7.8 years), we found good repeatability (κ coefficient, 0.76) for image quality score and good interobserver agreement for vasculature measurements (intraclass coefficient, 0.94). After optimization of the angiography scan protocol, vascular measurements within the regions of interest were compared in the superior versus inferior quadrants (mean vascular loops, 3.34±1.16 vs. 3.12 ± 0.90 [P = 0.768]; segment-to-loop ratio, 4.18±0.71 vs. 4.32±0.87 [P = 0.129]; fractal dimension [Df] value, 1.78±0.06 vs. 1.78±0.06 [P = 0.94]; vascular loop area, 25.9±14.5 vs. 25.9±10.7 × 10(-3) mm(2) [P = 0.21]) and nasal versus temporal quadrant (mean vascular loops, 2.89±0.98 vs. 3.57±0.99 [P < 0.001]; segment-to-loop ratio, 3.94±0.69 vs. 4.55±0.78 [P = 0.897]; Df value, 1.78±0.06 vs. 1.77±0.06 [P = 0.14]; vascular loop area, 29.7±15.7 vs. 22.1±7.1 × 10(-3) mm(2) [P = 0.38]. We then used the established OCTA scanning protocol to visualize abnormal vasculature successfully in 5 patients with various corneal pathologic features, including graft-associated neovascularization, postherpetic keratitis scarring, lipid keratopathy, and limbal stem cell deficiency. CONCLUSIONS: This preliminary study describes a method for acquiring OCTA images of the cornea and limbal vasculature with substantial consistency. This technique may be useful for the objective evaluation of corneal neovascularization in the future.
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Segmento Anterior do Olho/irrigação sanguínea , Angiofluoresceinografia , Fluxo Sanguíneo Regional/fisiologia , Tomografia de Coerência Óptica , Adulto , Neovascularização da Córnea/fisiopatologia , Estudos Transversais , Diagnóstico por Imagem/métodos , Feminino , Voluntários Saudáveis , Humanos , Masculino , Microcirculação/fisiologia , Pessoa de Meia-Idade , Pterígio/fisiopatologia , Adulto JovemRESUMO
There will be an estimated 552 million persons with diabetes globally by the year 2030. Over half of these individuals will develop diabetic retinopathy, representing a nearly insurmountable burden for providing diabetes eye care. Telemedicine programmes have the capability to distribute quality eye care to virtually any location and address the lack of access to ophthalmic services. In most programmes, there is currently a heavy reliance on specially trained retinal image graders, a resource in short supply worldwide. These factors necessitate an image grading automation process to increase the speed of retinal image evaluation while maintaining accuracy and cost effectiveness. Several automatic retinal image analysis systems designed for use in telemedicine have recently become commercially available. Such systems have the potential to substantially improve the manner by which diabetes eye care is delivered by providing automated real-time evaluation to expedite diagnosis and referral if required. Furthermore, integration with electronic medical records may allow a more accurate prognostication for individual patients and may provide predictive modelling of medical risk factors based on broad population data.
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Automação , Retinopatia Diabética/diagnóstico , Processamento de Imagem Assistida por Computador , Retina/patologia , Telemedicina/métodos , Humanos , Programas de RastreamentoRESUMO
BACKGROUND: Retinal vasculitis is a potentially sight-threatening inflammation of the retinal vessels, but little is known about the in vivo vascular changes, which occur in affected eyes. The authors therefore sought to measure vessel caliber in eyes with vasculitis. METHODS: Retrospective case-control study. Vasculitis was confirmed using fluorescein angiography. Vessel calibers were measured using validated semiautomated software. RESULTS: There were 21 eyes from 15 patients with vasculitis and 33 control eyes from 21 control subjects. Most cases were diagnosed with idiopathic vasculitis. All had periphlebitis, and one eye also had arteritis. After adjustment for age and gender, mean arteriolar caliber was 143 µm (95% confidence interval [CI], 134-152) in cases and 158 µm (95% CI, 151-165) in controls (P = 0.01). Venular caliber was similar in cases (229 µm; 95% CI, 215-243) and controls (228 µm; 95% CI, 217-234; P = 0.91), whereas arteriole-to-venule ratio was smaller in cases (0.63; 95% CI, 0.60-0.66) compared with controls (0.70; 95% CI, 0.02-0.11; P = 0.004). CONCLUSION: Retinal vasculitis was associated with narrower arteriolar caliber, whereas venular caliber was similar to controls. This resulted in a smaller arteriole-to-venule ratio in eyes with vasculitis.
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Artéria Retiniana/patologia , Vasculite Retiniana/complicações , Veia Retiniana/patologia , Adulto , Arteríolas/patologia , Estudos de Casos e Controles , Feminino , Angiofluoresceinografia , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Fotografação , Vasculite Retiniana/diagnóstico , Estudos Retrospectivos , Vênulas/patologiaRESUMO
PURPOSE: To describe the phenotype, associations, and complications of dome-shaped macula (DSM) through the combination of spectral-domain optical coherence tomography (OCT) imaging and B-scan ultrasonography, when available. This retroprospective cohort study aims to gain further pathophysiological understanding in eyes with DSM. METHODS: Fifty-eight eyes of 36 patients were identified as having OCT features of DSM. Retinal and choroidal thicknesses were determined from enhanced depth imaging (EDI)-OCT image sets, with scleral thickness subsequently calculated by subtraction from the B-scan ultrasound-derived measurements of posterior coat thickness. RESULTS: DSM was associated with myopia in 81 % of eyes. The underlying clinical diagnosis was variable: central serous chorioretinopathy (CSCR)-like entity, choroidal neovascularization, and inherited retinal disorders. The subfoveal choroidal thickness of the nine highly myopic eyes with a CSCR-like phenotype was thicker than the 25 eyes without CSCR (p = 0.169). The mean subfoveal scleral thickness of the highly myopic eyes was 585 ± 196 µm, which was significantly different from those with a refractive error less than 6 diopters (1133 ± 290 µm) (P < 0.0001). CONCLUSIONS: This study highlights the novel observation of a thickened choroid when CSCR is present. In addition, we expand the associations of DSM to eyes with hypermetropia and acquired disease, and to those with inherited retinal dystrophies.
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Macula Lutea/patologia , Doenças Retinianas/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Coriorretinopatia Serosa Central/diagnóstico , Criança , Corioide/patologia , Neovascularização de Coroide/diagnóstico , Estudos de Coortes , Corantes , Feminino , Angiofluoresceinografia , Humanos , Verde de Indocianina , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Miopia/diagnóstico , Fenótipo , Estudos Retrospectivos , Esclera/patologia , Tomografia de Coerência Óptica , Ultrassonografia , Acuidade Visual/fisiologia , Adulto JovemRESUMO
Purpose: To develop a severity classification for macular telangiectasia type 2 (MacTel) disease using multimodal imaging. Design: An algorithm was used on data from a prospective natural history study of MacTel for classification development. Subjects: A total of 1733 participants enrolled in an international natural history study of MacTel. Methods: The Classification and Regression Trees (CART), a predictive nonparametric algorithm used in machine learning, analyzed the features of the multimodal imaging important for the development of a classification, including reading center gradings of the following digital images: stereoscopic color and red-free fundus photographs, fluorescein angiographic images, fundus autofluorescence images, and spectral-domain (SD)-OCT images. Regression models that used least square method created a decision tree using features of the ocular images into different categories of disease severity. Main Outcome Measures: The primary target of interest for the algorithm development by CART was the change in best-corrected visual acuity (BCVA) at baseline for the right and left eyes. These analyses using the algorithm were repeated for the BCVA obtained at the last study visit of the natural history study for the right and left eyes. Results: The CART analyses demonstrated 3 important features from the multimodal imaging for the classification: OCT hyper-reflectivity, pigment, and ellipsoid zone loss. By combining these 3 features (as absent, present, noncentral involvement, and central involvement of the macula), a 7-step scale was created, ranging from excellent to poor visual acuity. At grade 0, 3 features are not present. At the most severe grade, pigment and exudative neovascularization are present. To further validate the classification, using the Generalized Estimating Equation regression models, analyses for the annual relative risk of progression over a period of 5 years for vision loss and for progression along the scale were performed. Conclusions: This analysis using the data from current imaging modalities in participants followed in the MacTel natural history study informed a classification for MacTel disease severity featuring variables from SD-OCT. This classification is designed to provide better communications to other clinicians, researchers, and patients. Financial Disclosures: Proprietary or commercial disclosure may be found after the references.
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PURPOSE: To visualize the mode of action of anti-vascular endothelial growth factor (anti-VEGFs) therapy on retinal neovascularization (RNV) in a patient with macular telangiectasia (MacTel) type 2 using a detailed three-dimensional data environment. OBSERVATION: A 60-year-old man presented with visual acuity loss and was diagnosed with MacTel type 2. Fluorescein angiography was not possible for safety reasons because of a history of severe reaction to fluorescein dye at his referring hospital. Optical coherence tomography angiography (OCTA) imaging revealed new retinal neovascular membranes (RNV) in the macula of both eyes. A marked reduction in the size of the RNV in both eyes was evident on volume-rendered three-dimensional OCTA retinal imaging after the first anti-VEGF injection. CONCLUSION AND IMPORTANCE: The ability to directly observe the effect of anti-VEGF injections on a RNV using three-dimensional OCTA was successfully demonstrated. This can be useful in patients with previous allergic and potentially lethal complications to fluorescein. In addition, enhanced three-dimensional spatial display of RNV leads to a greater understanding of the perfusion profile and the anatomical changes that occur in ocular neovascularization relative to surrounding tissue. This has the potential to provide insight into the pathobiology of angiogenesis.
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BACKGROUND/OBJECTIVES: To re-evaluate diabetic papillopathy using optical coherence tomography (OCT) for quantitative analysis of the peripapillary retinal nerve fibre layer (pRNFL), macular ganglion cell layer (mGCL) and inner nuclear layer (mINL) thickness. SUBJECTS/METHODS: In this retrospective observational case series between June 2008 and July 2019 at Moorfields Eye hospital, 24 eyes of 22 patients with diabetes and optic disc swelling with confirmed diagnosis of NAION or diabetic papillopathy by neuro-ophthalmological assessment were included for evaluation of the pRNFL, mGCL and mINL thicknesses after resolution of optic disc swelling. RESULTS: The mean age of included patients was 56.5 (standard deviation (SD) ± 14.85) years with a mean follow-up duration of 216 days. Thinning of pRNFL (mean: 66.26, SD ± 31.80 µm) and mGCL (mean volume: 0.27 mm3, SD ± 0.09) were observed in either group during follow-up, the mINL volume showed no thinning with 0.39 ± 0.05 mm3. The mean decrease in visual acuity was 4.13 (SD ± 14.27) ETDRS letters with a strong correlation between mGCL thickness and visual acuity (rho 0.74, p < 0.001). CONCLUSION: After resolution of acute optic disc swelling, atrophy of pRNFL and mGCL became apparent in all cases of diabetic papillopathy and diabetic NAION, with preservation of mINL volumes. Analysis of OCT did not provide a clear diagnostic distinction between both entities. We suggest a diagnostic overlay with the degree of pRNFL and mGCL atrophy of prognostic relevance for poor visual acuity independent of the semantics of terminology.
Assuntos
Diabetes Mellitus , Retinopatia Diabética , Disco Óptico , Neuropatia Óptica Isquêmica , Papiledema , Atrofia/patologia , Diabetes Mellitus/patologia , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/patologia , Humanos , Fibras Nervosas/patologia , Disco Óptico/patologia , Neuropatia Óptica Isquêmica/diagnóstico , Papiledema/diagnóstico , Papiledema/etiologia , Células Ganglionares da Retina/patologia , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodosRESUMO
IMPORTANCE: Poor access to existing care for diabetic retinopathy (DR) limits effectiveness of proven treatments. OBJECTIVES: We examined whether outreach screening in rural China improves equity of access. DESIGN, SETTING AND PARTICIPANTS: We compared prevalence of female sex, age > = 65 years, primary education or below, and requiring referral care for DR between three cohorts with diabetes examined for DR in neighboring areas of Guangdong, China: passive case detection at secondary-level hospitals (n = 193); persons screened during primary-level DR outreach (n = 182); and individuals with newly- or previously-diagnosed diabetes in a population survey (n = 579). The latter reflected the "ideal" reach of a screening program. RESULTS: Compared to the population cohort, passive case detection reached fewer women (50·8% vs. 62·3%, p = 0·006), older adults (37·8% vs. 51·3%, p < 0·001), and less-educated persons (39·9% vs. 89·6%, p < 0·001). Outreach screening, compared to passive case detection, improved representation of the elderly (49·5% vs. 37·8%, p = 0·03) and less-educated (70·3% vs. 39·9%, p<0·001). The proportion of women (59.8% vs 62.3%, P>0.300) and persons aged > = 65 years (49.5% vs 51.3%, p = 0.723) in the outreach screening and population cohorts did not differ significantly. Prevalence of requiring referral care for DR was significantly higher in the outreach screening cohort (28·0%) than the population (14·0%) and passive case detection cohorts (7·3%, p<0·001 for both). CONCLUSIONS AND RELEVANCE: Primary-level outreach screening improves access for the poorly-educated and elderly, and removes gender inequity in access to DR care in this setting, while also identifying more severely-affected patients than case finding in hospital.
Assuntos
Diabetes Mellitus , Retinopatia Diabética , Idoso , China/epidemiologia , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/epidemiologia , Retinopatia Diabética/terapia , Feminino , Humanos , Programas de Rastreamento , Prevalência , População RuralRESUMO
Macular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. We performed a genome-wide association study on 1,067 MacTel patients and 3,799 controls, which identified eight novel genome-wide significant loci (p < 5 × 10-8), and confirmed all three previously reported loci. Using MAGMA, eQTL and transcriptome-wide association analysis, we prioritised 48 genes implicated in serine-glycine biosynthesis, metabolite transport, and retinal vasculature and thickness. Mendelian randomization indicated a likely causative role of serine (FDR = 3.9 × 10-47) and glycine depletion (FDR = 0.006) as well as alanine abundance (FDR = 0.009). Polygenic risk scoring achieved an accuracy of 0.74 and was associated in UKBiobank with retinal damage (p = 0.009). This represents the largest genetic study on MacTel to date and further highlights genetically-induced systemic and tissue-specific metabolic dysregulation in MacTel patients, which impinges on retinal health.
Assuntos
Metabolismo Energético/genética , Polimorfismo de Nucleotídeo Único , Retina/metabolismo , Telangiectasia Retiniana/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Loci Gênicos , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Masculino , Análise da Randomização Mendeliana , Pessoa de Meia-Idade , Fenótipo , Locos de Características Quantitativas , Telangiectasia Retiniana/diagnóstico , Telangiectasia Retiniana/metabolismo , Medição de Risco , Fatores de Risco , TranscriptomaRESUMO
PURPOSE: To investigate the role of fundus autofluorescence (FAF) imaging in the diagnosis of macular telangiectasia type 2 (MacTel) and to describe disease-associated FAF patterns and their origin. DESIGN: Cross-sectional multicenter study METHODS: FAF images were collected from the multicenter MacTel Natural History Observation and Registry Study. In a first qualitative approach, common FAF phenotypes were defined and correlated with multimodal imaging. We then evaluated how many eyes showed FAF changes, and temporal vs nasal asymmetry of FAF changes was graded. Finally, 100 eyes of MacTel patients and 100 control eyes (50 normal eyes and 50 eyes with other macular diseases) were combined and 2 masked graders assessed the presence of MacTel based on FAF images alone. RESULTS: The study included 807 eyes of 420 patients (33 eyes were excluded owing to poor image quality). Loss of macular pigment, cystoid spaces, pigment plaques, neovascular membranes, and ectatic vascular changes commonly caused characteristic changes on FAF images. All MacTel patients had macular FAF changes in at least 1 eye. In 95% of eyes, these changes were more pronounced temporally than nasally. Common FAF patterns were increased (60%) and mixed/decreased FAF (38%) and/or visibility of vascular changes such as blunted vessels or ectatic capillaries (79%). Based on those features, high diagnostic performance was achieved for detection of the disease based on FAF alone (Youden index up to 0.91). CONCLUSIONS: The study demonstrates that MacTel is consistently associated with disease-specific changes on FAF imaging. Those changes are typically more pronounced in the temporal parafovea.
Assuntos
Angiofluoresceinografia/métodos , Macula Lutea/diagnóstico por imagem , Imagem Multimodal , Oftalmoscopia/métodos , Telangiectasia Retiniana/diagnóstico , Vasos Retinianos/diagnóstico por imagem , Acuidade Visual , Estudos Transversais , Fundo de Olho , Humanos , Reprodutibilidade dos Testes , Telangiectasia Retiniana/epidemiologia , Tomografia de Coerência Óptica/métodosRESUMO
PURPOSE: We sought to develop and validate a deep learning model for segmentation of 13 features associated with neovascular and atrophic age-related macular degeneration (AMD). DESIGN: Development and validation of a deep-learning model for feature segmentation. METHODS: Data for model development were obtained from 307 optical coherence tomography volumes. Eight experienced graders manually delineated all abnormalities in 2712 B-scans. A deep neural network was trained with these data to perform voxel-level segmentation of the 13 most common abnormalities (features). For evaluation, 112 B-scans from 112 patients with a diagnosis of neovascular AMD were annotated by 4 independent observers. The main outcome measures were Dice score, intraclass correlation coefficient, and free-response receiver operating characteristic curve. RESULTS: On 11 of 13 features, the model obtained a mean Dice score of 0.63 ± 0.15, compared with 0.61 ± 0.17 for the observers. The mean intraclass correlation coefficient for the model was 0.66 ± 0.22, compared with 0.62 ± 0.21 for the observers. Two features were not evaluated quantitatively because of a lack of data. Free-response receiver operating characteristic analysis demonstrated that the model scored similar or higher sensitivity per false positives compared with the observers. CONCLUSIONS: The quality of the automatic segmentation matches that of experienced graders for most features, exceeding human performance for some features. The quantified parameters provided by the model can be used in the current clinical routine and open possibilities for further research into treatment response outside clinical trials.