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Journal of Imaging Jul 2023The current advancement towards retinal disease detection mainly focused on distinct feature extraction using either a convolutional neural network (CNN) or a...
The current advancement towards retinal disease detection mainly focused on distinct feature extraction using either a convolutional neural network (CNN) or a transformer-based end-to-end deep learning (DL) model. The individual end-to-end DL models are capable of only processing texture or shape-based information for performing detection tasks. However, extraction of only texture- or shape-based features does not provide the model robustness needed to classify different types of retinal diseases. Therefore, concerning these two features, this paper developed a fusion model called 'Conv-ViT' to detect retinal diseases from foveal cut optical coherence tomography (OCT) images. The transfer learning-based CNN models, such as Inception-V3 and ResNet-50, are utilized to process texture information by calculating the correlation of the nearby pixel. Additionally, the vision transformer model is fused to process shape-based features by determining the correlation between long-distance pixels. The hybridization of these three models results in shape-based texture feature learning during the classification of retinal diseases into its four classes, including choroidal neovascularization (CNV), diabetic macular edema (DME), DRUSEN, and NORMAL. The weighted average classification accuracy, precision, recall, and F1 score of the model are found to be approximately 94%. The results indicate that the fusion of both texture and shape features assisted the proposed Conv-ViT model to outperform the state-of-the-art retinal disease classification models.
PubMed: 37504817
DOI: 10.3390/jimaging9070140 -
Orphanet Journal of Rare Diseases Jul 2023To determine whether the rare NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) is associated with retinal changes and to assess the ocular involvement.
PURPOSE
To determine whether the rare NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) is associated with retinal changes and to assess the ocular involvement.
METHODS
A retrospective cohort study of 20 patients(40 eyes) diagnosed with rare NLRP3-AID at Peking Union Medical College Hospital, from April 2015 to August 2022. Patients underwent a comprehensive ophthalmological examination, including visual acuity, intraocular pressure examination, slit-lamp examination, fundus photography, optical coherence tomography(OCT), and fluorescence angiography (FA). Some patients also underwent optical coherence tomography angiography (OCTA).
RESULTS
This study analyzed 40 eyes of 20 patients (11 [55.0%] male; median age, 25.0 years [range, 12-52 years]) and 13 patients (26 eyes, 65%) demonstrated ocular involvement. The most common ophthalmologic manifestation was conjunctivitis (22 eyes, 84.6%), followed by papilledema (14 eyes, 53.8%), retinopathy (10 eyes, 38.5%), optic atrophy (6 eyes, 23.1%), uveitis (4 eyes, 15.4%), reduced pupil light reflex (3 eyes, 11.5%) and cataracts (2 eyes, 7.7%). Ocular involvement was bilateral in 11 patients (55.0%). Five kinds of retinal lesions were seen in 5 patients (10 eyes, 25%) with NLRP3-AID, including peripheral retinal vascular leakage, microaneurysms, macular ischemia, macular epiretinal membrane formation and drusen.
CONCLUSIONS
Peripheral retinal vascular leakage, macular ischemia, microaneurysms and drusen are newly identified retinal findings in patients with NLRP3-AID, which suggests the importance of detailed retinal examination in these patients.
Topics: Humans; Male; Adult; Female; NLR Family, Pyrin Domain-Containing 3 Protein; Retrospective Studies; Microaneurysm; Retinal Diseases; Tomography, Optical Coherence; Ischemia; Hereditary Autoinflammatory Diseases
PubMed: 37480029
DOI: 10.1186/s13023-023-02815-1 -
Genes & Nutrition Jul 2023Age-related macular degeneration (AMD) is one of the major causes of vision loss. Early AMD needs to be taken seriously, but the causal effects of lipid biomarkers on...
BACKGROUND
Age-related macular degeneration (AMD) is one of the major causes of vision loss. Early AMD needs to be taken seriously, but the causal effects of lipid biomarkers on early AMD remain unclear.
METHODS
In this study, two-sample Mendelian randomization (MR) analysis was performed to systematically assess the causal relationships between seven serum lipid biomarkers (apolipoprotein A (ApoA), apolipoprotein B (ApoB), total cholesterol (CHOL), high-density lipoprotein cholesterol (HDL-C), direct low-density lipoprotein cholesterol (LDL-C), lipoprotein A [Lp(a)], and triglycerides (TG)) and risk of early AMD. In total, 14,034 cases and 91,214 controls of European ancestry were included in the analysis (number of SNPs = 11,304,110).
RESULTS
MR estimates revealed that a higher HDL-C level is strongly associated with increased risk of early AMD (OR = 1.25, 95% CI: 1.15-1.35, P = 2.61 × 10). In addition, level of ApoA is also positively associated with risk of early AMD (OR = 2.04, 95% CI: 1.50-2.77, P = 6.27 × 10). Conversely, higher levels of TG significantly decrease the risk of early AMD (OR = 0.77, 95% CI: 0.71-0.84, P = 5.02 × 10). Sensitivity analyses further supported these associations. Moreover, multivariable MR analyses, adjusted for the effects of correlated lipid biomarkers, yielded similar results.
CONCLUSION
This study identifies causal relationships between elevated circulating HDL-C/ApoA levels and increased risk of early AMD, in addition to finding that TG specifically reduces the risk of early AMD. These findings contribute to a better understanding of the role of lipid metabolism in drusen formation, particularly in early AMD development.
PubMed: 37479984
DOI: 10.1186/s12263-023-00730-5 -
Ophthalmology. Retina Dec 2023To investigate the ability of retromode imaging technology to visualize drusen-like deposits (DLDs) in the macular region of healthy individuals without retinal... (Observational Study)
Observational Study
PURPOSE
To investigate the ability of retromode imaging technology to visualize drusen-like deposits (DLDs) in the macular region of healthy individuals without retinal diseases. Additionally, the correlation between subject age and the density of DLDs was assessed and their topographic distribution was evaluated.
DESIGN
Prospective, observational, cross-sectional study SUBJECTS: Healthy volunteers (aged ≥ 35 years) without macular diseases.
METHODS
This study evaluated macular images in healthy adults using color fundus photography (FP) and retromode imaging. Two masked graders counted the number of DLDs identifiable with each modality. The standardized ETDRS concentric rings were adopted to divide DLDs based on their topographic distribution.
MAIN OUTCOME MEASURES
Comparison of the number of DLDs detected with each imaging modality. The association between DLDs and age. The topographic distribution of macular DLDs with retromode imaging.
RESULTS
The study included 91 eyes of 52 healthy volunteers (mean ± standard deviation age, 57.9 ± 10.9 years; range, 36-82 years). Overall, at least 1 DLD was present in 63.74% of eyes on color FP and 96.71% on retromode. Retromode imaging allowed detection of significantly more DLDs compared with color FP within the ETDRS grid (median [interquartile range], 4 [1-14] vs. 0 [0-0] respectively; P < 0.001). The density of DLDs was higher in the outer and inner rings compared with the central subfield (relative risk [RR], 16.70; 95% confidence interval [CI], 10.3-27.3 vs. RR 17.1; 95% CI, 10.5-27.6, respectively). Age was significantly correlated with DLDs density in all 3 sectors (all P < 0.05).
CONCLUSIONS
Retromode technology allowed the detection of a significantly higher number of DLDs compared with FP in the macula of healthy individuals. This noninvasive imaging modality could be used to investigate the effect of the aging process on the macula, fostering a better understanding of the pathophysiology of age-related macular diseases.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Topics: Adult; Aged; Humans; Middle Aged; Cross-Sectional Studies; Macular Degeneration; Prospective Studies; Retina; Retinal Drusen
PubMed: 37479086
DOI: 10.1016/j.oret.2023.07.012 -
Eye (London, England) Jan 2024Microvascular alterations and choroidal impairment are emerging as a pathologic pathway in age-related macular degeneration (AMD). This study aimed to evaluate the... (Observational Study)
Observational Study
BACKGROUND/OBJECTIVES
Microvascular alterations and choroidal impairment are emerging as a pathologic pathway in age-related macular degeneration (AMD). This study aimed to evaluate the central macular choriocapillaris (CC) in eyes with subretinal drusenoid deposits (SDD) and the retinal microvasculature in patients with early AMD phenotypes.
SUBJECTS/METHODS
This was an institutional, multicentric observational cross-sectional study. Ninety-nine eyes of 99 subjects; 33 eyes with SDD only, 33 eyes with conventional drusen (CD) only, and 33 eyes of healthy age-matched subjects were included. Comprehensive ophthalmologic examination and optical coherence tomography angiography (OCTA) was performed. The central macular flow area of the CC was analysed in the SDD group and the vessel density of the retinal superficial capillary plexus (SCP) and deep capillary plexus (DCP) was analysed in the SDD and CD groups using automated OCTA output parameters.
RESULTS
The flow area of the CC in the SDD group was significantly reduced (p ≤ 0.001) with respect to the healthy control group. There was a trend of reduction of vessel density of the SCP and the DCP in the SDD and CD group with respect to controls, although this did not reach statistical significance.
CONCLUSIONS
OCTA data in the present report corroborate the role of vascular damage in early AMD with CC impairment in the central macular area in eyes with SDD.
Topics: Humans; Choroid; Cross-Sectional Studies; Fluorescein Angiography; Macular Degeneration; Retina; Retinal Drusen; Retinal Vessels; Tomography, Optical Coherence
PubMed: 37419959
DOI: 10.1038/s41433-023-02654-1 -
European Journal of Epidemiology Sep 2023Genetic variants in ABCA1 are associated with higher concentrations of high-density lipoprotein (HDL) cholesterol. Higher HDL cholesterol concentrations are...
Genetic variants in ABCA1 are associated with higher concentrations of high-density lipoprotein (HDL) cholesterol. Higher HDL cholesterol concentrations are observationally and genetically associated with higher risk of age-related macular degeneration (AMD). However, whether amino acid-changing genetic variants in ABCA1 associated with high HDL cholesterol concentrations confer a higher risk of AMD in the general population is currently unknown. We tested this hypothesis. The study included 80,972 individuals (1,370 AMD cases) from the Copenhagen General Population Study (CGPS) and 9,584 individuals (142 AMD cases) from the Copenhagen City Heart Study (CCHS) with 10 to 18 years of follow-up. We created an HDL cholesterol weighted allele score based on amino acid-changing ABCA1 variants with a minor allele frequency above 0.001 and divided it into tertiles. The study included 55% women. Mean age was 58 years. The ABCA1 allele score for the third versus the first tertile was associated with HRs (95% confidence intervals (CIs)) of 1.30 (1.14-1.49) for all-cause AMD, 1.26 (1.06-1.50) for nonneovascular AMD, and 1.31 (1.12-1.53) for neovascular AMD in a multivariable adjusted model. On a continuous scale, higher concentrations of genetically determined HDL cholesterol were associated with higher risk of all-cause AMD, nonneovascular AMD, and neovascular AMD in an age- and sex adjusted model and in a multivariable adjusted model. In conclusion, amino acid-changing genetic variants in ABCA1 associated with higher HDL cholesterol concentrations were also associated with higher risk of AMD, suggesting a role for ABCA1 in AMD pathogenesis.
Topics: Female; Humans; Male; Middle Aged; Amino Acids; Angiogenesis Inhibitors; Cholesterol, HDL; Vascular Endothelial Growth Factor A; Visual Acuity; Wet Macular Degeneration; ATP Binding Cassette Transporter 1
PubMed: 37335386
DOI: 10.1007/s10654-023-01021-4 -
Ophthalmology. Retina Oct 2023To elucidate the clinical characteristics and progression rate of geographic atrophy (GA) associated with age-related macular degeneration (AMD) in a Japanese population. (Observational Study)
Observational Study
PURPOSE
To elucidate the clinical characteristics and progression rate of geographic atrophy (GA) associated with age-related macular degeneration (AMD) in a Japanese population.
DESIGN
Retrospective, multicenter, observational study.
PARTICIPANTS
A total of 173 eyes from 173 patients from 6 university hospitals in Japan were included. Of 173 study eyes, 101 eyes from 101 patients were included in the follow-up group. All patients were Japanese, aged ≥ 50 years and had definite GA associated with AMD in at least 1 eye.
METHODS
The GA area was measured semiautomatically using fundus autofluorescence (FAF) images. In the follow-up group followed for > 6 months with FAF images, the GA progression rate was calculated by 2 methods: mm per year and mm per year using the square-root transformation (SQRT) strategy. Simple and multiple linear regression analyses were used to identify the baseline factors associated with the GA progression rate.
MAIN OUTCOME MEASURES
Clinical characteristics of GA and the GA progression rate.
RESULTS
The mean age was 76.8 ± 8.8 years, and 109 (63.0%) were males. Sixty-two (35.8%) patients had bilateral GA. The mean GA area was 3.06 ± 4.00 mm (1.44 ± 1.00 mm [SQRT]). Thirty-eight eyes (22.0%) were classified as having pachychoroid GA. Drusen and reticular pseudodrusen were detected in 115 (66.5%) and 73 (42.2%) eyes, respectively. The mean subfoveal choroidal thickness was 194.7 ± 105.5 μm. In the follow-up group (follow-up period: 46.2 ± 28.9 months), the mean GA progression rate was 1.01 ± 1.09 mm per year (0.23 ± 0.18 mm/year [SQRT]). In the multivariable analysis, the baseline GA area (SQRT; P = 0.002) and the presence of reticular pseudodrusen (P < 0.001) were significantly associated with a greater GA progression rate (SQRT).
CONCLUSIONS
Certain clinical characteristics of GA in Asian populations may differ from those in White populations. Asian patients with GA showed male dominance and relatively thicker choroid than White patients. There was a group with GA without drusen but with features of pachychoroid. The GA progression rate in this Asian population was relatively lower than that in White populations. Large GA and reticular pseudodrusen were associated with a greater GA progression rate.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Topics: Humans; Male; Aged; Aged, 80 and over; Female; Geographic Atrophy; Retrospective Studies; East Asian People; Fluorescein Angiography; Macular Degeneration; Retinal Drusen
PubMed: 37302656
DOI: 10.1016/j.oret.2023.06.004 -
Ophthalmology Science Dec 2023To determine the interreader agreement for reticular pseudodrusen (RPD) assessment on combined infrared reflectance (IR) and OCT imaging in the early stages of...
PURPOSE
To determine the interreader agreement for reticular pseudodrusen (RPD) assessment on combined infrared reflectance (IR) and OCT imaging in the early stages of age-related macular degeneration across a range of different criteria to define their presence.
DESIGN
Interreader agreement study.
PARTICIPANTS
Twelve readers from 6 reading centers.
METHODS
All readers evaluated 100 eyes from individuals with bilateral large drusen for the following: (1) the presence of RPD across a range of different criteria and (2) the number of Stage 2 or 3 RPD lesions (from 0 to ≥ 5 lesions) on an entire OCT volume scan and on a selected OCT B-scan. Supportive information was available from the corresponding IR image.
MAIN OUTCOME MEASURES
Interreader agreement, as assessed by Gwet's first-order agreement coefficient (AC).
RESULTS
When evaluating an entire OCT volume scan, there was substantial interreader agreement for the presence of any RPD, any or ≥ 5 Stage 2 or 3 lesions, and ≥ 5 definite lesions on IR images corresponding to Stage 2 or 3 lesions (AC = 0.60-0.72). On selected OCT B-scans, there was also moderate-to-substantial agreement for the presence of any RPD, any or ≥ 5 Stage 2 or 3 lesions (AC = 0.58-0.65) and increasing levels of agreement with increasing RPD stage (AC = 0.08, 0.56, 0.78, and 0.99 for the presence of any Stage 1, 2, 3, and 4 lesions, respectively). There was substantial agreement regarding the number of Stage 2 or 3 lesions on an entire OCT volume scan (AC = 0.68), but only fair agreement for this evaluation on selected B-scans (AC = 0.30).
CONCLUSIONS
There was generally substantial or near-substantial-but not near-perfect-agreement for assessing the presence of RPD on entire OCT volume scans or selected B-scans across a range of differing RPD criteria. These findings underscore how interreader variability would likely contribute to the variability of findings related to the clinical associations of RPD. The low levels of agreement for assessing RPD number on OCT B-scans underscore the likely challenges of quantifying RPD extent with manual grading.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found after the references.
PubMed: 37292179
DOI: 10.1016/j.xops.2023.100325 -
Autophagy Oct 2023Age-related macular degeneration (AMD) is the leading cause of irreversible blindness among the elderly, and there is currently no clinical treatment targeting the...
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness among the elderly, and there is currently no clinical treatment targeting the primary impairment of AMD. The earliest clinical hallmark of AMD is drusen, which are yellowish spots mainly composed of lipid droplets (LDs) accumulated under the retinal pigment epithelium (RPE). However, the potential pathogenic role of this excessive LD accumulation in AMD is yet to be determined, partially due to a lack of chemical tools to manipulate LDs specifically. Here, we employed our recently developed Lipid Droplets·AuTophagy Tethering Compounds (LD∙ATTECs) to degrade LDs and to evaluate its consequence on the AMD-like phenotypes in apoe (apolipoprotein E; B6/JGpt-Apoe/Gpt) mouse model. apoe mice fed with high-fat diet (apoe-HFD) exhibited excessive LD accumulation in the retina, particularly with AMD-like phenotypes including RPE degeneration, Bruch's membrane (BrM) thickening, drusen-like deposits, and photoreceptor dysfunction. LD·ATTEC treatment significantly cleared LDs in RPE/choroidal tissues without perturbing lipid synthesis-related proteins and rescued RPE degeneration and photoreceptor dysfunction in apoe-HFD mice. This observation implied a causal relationship between LD accumulation and AMD-relevant phenotypes. Mechanically, the apoe-HFD mice exhibited elevated oxidative stress and inflammatory signals, both of which were mitigated by the LD·ATTEC treatment. Collectively, this study demonstrated that LD accumulation was a trigger for the process of AMD and provided entry points for the treatment of the initial insult of AMD by degrading LDs. AMD: age-related macular degeneration; : apolipoprotein E; ATTECs: autophagy-tethering compounds; BODIPY: boron-dipyrromethene; BrM: Bruch's membrane; ERG: electroretinogram; HFD: high-fat diet; LD·ATTECs: Lipid Droplets·AuTophagy Tethering Compounds; LDs: lipid droplets; OA: oleic acid; OPL: outer plexiform layer; ROS: reactive oxygen species; RPE: retinal pigment epithelium.
Topics: Mice; Animals; Lipid Droplets; Autophagy; Macular Degeneration; Retinal Pigment Epithelium; Apolipoproteins E; Phenotype; Apolipoproteins
PubMed: 37266932
DOI: 10.1080/15548627.2023.2220540