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RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review

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International Journal of Ophthalmology(English edition) 2024年第2期17卷 311-316页

作者： Jin Li Yi-Qun Hu Hong-Bo Cheng Ting Wang Long-Hao Kuang Tao Huang Xiao-He Yan Shenzhen eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina

AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same ***:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the *** we reviewed the characteristics of the patients reported with the same ***:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis *** best corrected vision was 0.04 OD and 0.12 OS,*** fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left *** shows bilateral symmetrical *** revealed that the amplitudes of a-and b-wave were severely *** ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was *** clinical characteristics of a total of 13 patients reported with the same pathologic variant ***:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are *** clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease.

关键词： RDH12 gene inherited retinal degeneration homozygous pathogenic variant clinical feature multi-mode imaging

Role of hsa_circ_0007482 in pterygium development: insights into proliferation, apoptosis, and clinical correlations

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International Journal of Ophthalmology(English edition) 2024年第8期17卷 1387-1395页

作者： Li-Yun Zhang Xin Liu Shuo Zheng Wen-Qun Xi Xue-Ping Wu Dan-Yao Nie Hui-Ling Hu Jian-Tao Wang Xin-Hua Liu Jing Zhang Shenzhen eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518000Guangdong ProvinceChina

AIM:To investigate the impact of hsa_circ_0007482 on the proliferation and apoptosis of human pterygium fibroblasts(HPFs)and its correlation with the severity grades of ***:Pterygium and normal conjunctival tissues were collected from the superior area of the same patient’s eye(n=33).The correlation between pterygium severity and hsa_circ_0007482 expression using quantitative reversetranscription polymerase chain reaction(RT-qPCR)were *** distinct siRNA sequences targeting hsa_circ_0007482,along with a negative control sequence,were transfected into *** proliferation was assessed using the cell counting *** levels of Ki67,proliferating cell nuclear antigen(PCNA),Cyclin D1,Bax,B-cell lymphoma-2(Bcl-2),and Caspase-3 were measured via *** staining was employed to detect Ki67 and vimentin *** was evaluated using flow ***:Hsa_circ_0007482 expression was significantly higher in pterygium tissues compared to normal conjunctival tissues(P<0.001).Positive correlations were observed between hsa_circ_0007482 expression and pterygium severity,thickness,and vascular *** of hsa_circ_0007482 inhibited cell proliferation,reducing the mRNA expression of Ki67,PCNA,and Cyclin D1 in ***_circ_0007482 knockdown induced apoptosis,increasing mRNA expression levels of Bax and Caspase-3,while decreasing Bcl-2 expression in ***,hsa_circ_0007482 knockdown attenuated vimentin expression in ***:The downregulation of hsa_circ_0007482 effectively hampers cell proliferation and triggers apoptosis in *** are discernible positive correlations detected between the expression of hsa_circ_0007482 and the severity of pterygium.

关键词： hsa_circ_0007482 circular RNA pterygium cell proliferation apoptosis

Two become one:combination of two risk factors in a new glaucoma animal model

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Neural Regeneration Research 2024年第5期19卷 982-983页

作者： Nils Kluge Sabrina Reinehr Experimental eye Research Institute University Eye HospitalRuhr-University BochumBochumGermany

Glaucoma is a group of eye diseases characterized by progressive loss of retinal ganglion cells(RGCs)and optic nerve *** this process,the visual field is reduced,and blindness may ultimately ***,glaucoma is the second leading cause of blindness,with about 80 million people *** is a multifactorial disease and due to its complexity,the exact pathomechanisms are not fully understood ***,different risk factors,such as elevated intraocular pressure(IOP),age,or myopia,have been identified to date(EGS,2021).

关键词： elevated exact glaucoma

Effect of aflibercept combined with triamcinolone acetonide on aqueous humor growth factor and inflammatory mediators in diabetic macular edema

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International Journal of Ophthalmology(English edition) 2024年第2期17卷 297-303页

作者： De-Shuang Li Hong-Xia Liao Jing-Lin Zhang Bo Qin Shenzhen Aier eye Hospital Aier Eye HospitalJinan UniversityShenzhen 518031Guangdong ProvinceChina Guangzhou Aier eye Hospital Jinan UniversityGuangzhou 510040Guangdong ProvinceChina

AIM:To investigate the efficacy of aflibercept combined with sub-tenon injection of triamcinolone acetonide(TA)in treating diabetic macular edema(DME)and to examine changes in growth factors and inflammatory mediator levels in aqueous humor after ***:Totally 67 DME patients(67 eyes)and 30 cataract patients(32 eyes)were enrolled as the DME group and the control group,*** DME group was divided into the aflibercept group(34 cases)and the aflibercept combined with TA group(combined group,33 cases).The aqueous humor of both groups was collected during the study *** aqueous levels of vascular endothelial growth factor(VEGF),monocyte chemoattractant protein-1(MCP-1),interleukin-6(IL-6),interleukin-8(IL-8),and interleukin-1β(IL-1β)were detected using a microsphere suspension array technology(Luminex 200TM).Aqueous cytokines,best-corrected visual acuity(BCVA),central macular thickness(CMT),and complications before and after treatment were compared between the aflibercept group and combined ***:The concentrations of VEGF,MCP-1,IL-6,and IL-8 in the aqueous humor were significantly higher in the DME group than those of the control group(all P0.05).CONCLUSION:The cytokines VEGF,MCP-1,IL-6,and IL-8 in the aqueous humor of DME patients are significantly *** and aflibercept combined with TA have good efficacy in DME patients,can effectively reduce CMT,improve the patient’s vision,and have high *** combined with TA can quickly downregulate the aqueous humor cytokines and help to relieve macular edema ***,the long-term eff

关键词： diabetic macular edema aqueous humor cytokines aflibercept triamcinolone acetonide

HCSP-Net:A Novel Model of Age-Related Macular Degeneration Classification Based on Color Fundus Photography

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Computers, Materials & Continua 2024年第4期79卷 391-407页

作者： Cheng Wan Jiani Zhao Xiangqian Hong Weihua Yang Shaochong Zhang College of Electronic and Information Engineering/College of Integrated Circuits Nanjing University of Aeronautics and AstronauticsNanjing211106China Shenzhen eye Institute Shenzhen Eye HospitalJinan UniversityShenzhen518040China

Age-related macular degeneration(AMD)ranks third among the most common causes of *** the most conventional and direct method for identifying AMD,color fundus photography has become prominent owing to its consistency,ease of use,and good quality in extensive clinical *** this study,a convolutional neural network(CSPDarknet53)was combined with a transformer to construct a new hybrid model,*** hybrid model was employed to tri-classify color fundus photography into the normal macula(NM),dry macular degeneration(DMD),and wet macular degeneration(WMD)based on clinical classification manifestations,thus identifying and resolving AMD as early as possible with color fundus *** further enhance the performance of this model,grouped convolution was introduced in this study without significantly increasing the number of ***-Net was validated using an independent test *** average precision of HCSPNet in the diagnosis of AMD was 99.2%,the recall rate was 98.2%,the F1-Score was 98.7%,the PPV(positive predictive value)was 99.2%,and the NPV(negative predictive value)was 99.6%.Moreover,a knowledge distillation approach was also adopted to develop a lightweight student network(SCSP-Net).The experimental results revealed a noteworthy enhancement in the accuracy of SCSP-Net,rising from 94%to 97%,while remarkably reducing the parameter count to a quarter of *** attribute positions SCSP-Net as a highly suitable candidate for the deployment of resource-constrained devices,which may provide ophthalmologists with an efficient tool for diagnosing AMD.

关键词： Computer-aided diagnosis deep learning age-related macular degeneration transformer

Intraocular pressure and gonioscopic findings in primary angle-closure disease in India—a big data study

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International Journal of Ophthalmology(English edition) 2024年第8期17卷 1495-1500页

作者： Srikantaiah Ramyashri Anthony Vipin Das Sirisha Senthil VST Centre for Glaucoma Care Kallam Anji Reddy CampusL V Prasad Eye InstituteHyderabad 500034India Drishti eye Centre Hyderabad 500073India Kallam Anji Reddy Campus L V Prasad Eye InstituteHyderabad 500034India

AIM:To describe the gonioscopic profile and intraocular pressure(IOP)in primary angle-closure(PAC)disease in patients presenting to a tertiary eye care network in ***:A cross-sectional hospital-based study that included 31484 new patients presenting between 2011 and *** with a clinical diagnosis of PAC/suspect/glaucoma were *** data was collected from an electronic medical record ***:PAC glaucoma(PACG)(47.55%)was the most common diagnosis followed by PAC(39.49%)and PAC suspect(PACS;12.96%).Female preponderance(54.6%)was noted with higher mean age at presentation among males(Peyes respectively post peripheral iridotomy(PI).Plateau iris syndrome(PIS)was noted in 252 eyes and all showed post dilated rise of IOP.A post dilated IOP rise was also noted with 8.86%,33.95%and 57.19%eyes with PACS,PAC and PACG respectively with IOP rise between 6-8 mm Hg across the disease ***:The superior quadrant is the narrowest angle and difficult to open with indentation and post *** probability of angle opening is less in PIS especially the complete variety along with post dilated IOP *** post dilated IOP rise in angle closure eyes warrants a careful dilatation,especially with PIS.

关键词： angle closure disease peripheral iridectomy gonioscopy post dilated intraocular pressure rise plateau iris syndrome

Evaluation of dry eye disease symptomatology and mental health status among patients with different COVID-19 statuses

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International Journal of Ophthalmology(English edition) 2024年第5期17卷 822-830页

作者： Fang Ruan Wen-Jun Kong Qian Fan Hong-Wei Dong Wei Zhang Wen-Bin Wei Ying Jie Department of Ophthalmology Beijing You’an HospitalCapital Medical UniversityBeijing Infectious Eye Disease Diagnosis and Treatment CenterBeijing 100069China Beijing Tongren eye Center Beijing Tongren HospitalCapital Medical UniversityBeijing Institute of OphthalmologyBeijing Ophthalmology and Visual Sciences Key LabBeijing 100730China Tianjin eye Hospital Tianjin Key Lab of Ophthalmology and Visual ScienceTianjin Eye InstituteNankai University Affiliated Eye HospitalNankai University Eye InstituteNankai UniversityClinical College of OphthalmologyTianjin Medical UniversityTianjin 300020China

AIM:To evaluate dry eye disease(DED)symptomatology and mental health status in different COVID-19 ***:A cross-sectional observational design was *** 123 eligible adults(46.34%of men,age range,18-59y)with COVID-19 included in the study from August to November,*** Surface Disease Index(OSDI),Five-item Dry eye Questionnaire(DEQ-5),Hospital Anxiety and Depression Scale(HADS),and Pittsburgh Sleep Quality Index(PSQI)were used in this ***:OSDI scores were 6.82(1.25,15.91)in asymptomatic carriers,7.35(2.50,18.38)in mild cases,and 16.67(4.43,28.04)in recurrent cases,with 30.00%,35.56%,and 57.89%,respectively evaluated as having DED symptoms(χ2=7.049,P=0.029).DEQ-5 score varied from 2.00(0,6.00)in asymptomatic carriers,3.00(0,8.00)in mild cases,and 8.00(5.00,10.00)in recurrent cases,with 27.50%,33.33%,and 55.26%,respectively assessed as having DED symptoms(χ2=8.532,P=0.014).The prevalence of clinical anxiety(50.00%)and depression(47.37%)symptoms were also significantly higher in patients with recurrent infection(χ2=24.541,P<0.001;χ2=30.871,P<0.001).Recurrent infection was a risk factor for high OSDI scores[odds ratio,2.562;95%confidence interval(CI),1.631-7.979;P=0.033]and DEQ-5 scores(odds ratio,3.353;95%CI,1.038-8.834;P=0.043),whereas having a fixed occupation was a protective factor for OSDI scores(odds ratio,0.088;95%CI,0.022-0.360;P=0.001)and DEQ-5 scores(odds ratio,0.126;95%CI,0.039-0.405;P=0.001).CONCLUSION:Patients with recurrent COVID-19 have more severe symptoms of DED,anxiety,and depression.

关键词： COVID-19 dry eye disease recurrent infection mental health

Clinical associations of corneal neuromas with ocular surface diseases

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Neural Regeneration Research 2024年第1期19卷 140-147页

作者： Charmaine Jan Li Toh Chang Liu Isabelle Xin Yu Lee Molly Tzu Yu Lin Louis Tong Yu-Chi Liu Lee Kong Chian School of Medicine Nanyang Technological UniversitySingapore Singapore eye Research Institute Singapore Department of Cornea and External eye Disease Singapore National Eye CentreSingapore Ophthalmology and Visual Sciences Academic Clinical Program Duke-NUS Medical SchoolSingapore

Corneal neuromas,also termed microneuromas,refer to microscopic,irregula rly-shaped enlargements of terminal subbasal nerve endings at sites of nerve damage or *** formation of corneal neuromas results from damage to corneal nerves,such as following corneal pathology or corneal or intraocular surge ***,denervated areas of sensory nerve fibers become invaded by sprouts of intact sensory nerve fibers,and later injured axons regenerate and new sprouts called neuromas *** recent years,analysis of corneal nerve abnormalities including corneal neuromas which can be identified using in vivo confocal microscopy,a non-invasive imaging technique with microscopic resolution,has been used to evaluate corneal neuropathy and ocular surface *** neuromas have been shown to be associated with clinical symptoms of discomfort and dryness of eyes,and are a promising surrogate biomarker for ocular surface diseases,such as neuropathic corneal pain,dry eye disease,diabetic corneal neuropathy,neurotrophic keratopathy,Sjogren's syndrome,bullous keratopathy,post-refra ctive surgery,and *** this review,we have summarized the current literature on the association between these ocular surface diseases and the presentation of corneal microneuromas,as well as elaborated on their pathogenesis,visualization via in vivo confocal microscopy,and utility in monitoring treatment *** current quantitative analysis on neuromas mainly relies on manual annotation and quantification,which is user-dependent and labor-intensive,future direction includes the development of artificial intelligence software to identify and quantify these potential imaging biomarkers in a more automated and sensitive manner,allowing it to be applied in clinical settings more *** imaging and molecular biomarkers may also help elucidate the associations between corneal neuromas and ocular surface diseases.

关键词： cornea corneal diseases corneal nerve corneal neuropathy in vivo confocal microscopy microneuroma neuroma ocular surface diseases

Intelligent diagnosis of retinal vein occlusion based on color fundus photographs

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 1-6页

作者： Yu-Ke Ji Rong-Rong Hua Sha Liu Cui-Juan Xie Shao-Chong Zhang Wei-Hua Yang eye Hospital Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina College of Electronic Information Engineering Nanjing University of Aeronautics and AstronauticsNanjing 210000Jiangsu ProvinceChina Shenzhen eye Institute Shenzhen Eye HospitalJinan UniversityShenzhen 518000Guangdong ProvinceChina

AIM:To develop an artificial intelligence(AI)diagnosis model based on deep learning(DL)algorithm to diagnose different types of retinal vein occlusion(RVO)by recognizing color fundus photographs(CFPs).METHODS:Totally 914 CFPs of healthy people and patients with RVO were collected as experimental data sets,and used to train,verify and test the diagnostic model of *** the images were divided into four categories[normal,central retinal vein occlusion(CRVO),branch retinal vein occlusion(BRVO),and macular retinal vein occlusion(MRVO)]by three fundus disease *** Transformer was used to build the RVO diagnosis model,and different types of RVO diagnosis experiments were *** model’s performance was compared to that of the ***:The accuracy of the model in the diagnosis of normal,CRVO,BRVO,and MRVO reached 1.000,0.978,0.957,and 0.978;the specificity reached 1.000,0.986,0.982,and 0.976;the sensitivity reached 1.000,0.955,0.917,and 1.000;the F1-Sore reached 1.000,0.9550.943,and 0.887 *** addition,the area under curve of normal,CRVO,BRVO,and MRVO diagnosed by the diagnostic model were 1.000,0.900,0.959 and 0.970,*** diagnostic results were highly consistent with those of fundus disease experts,and the diagnostic performance was ***:The diagnostic model developed in this study can well diagnose different types of RVO,effectively relieve the work pressure of clinicians,and provide help for the follow-up clinical diagnosis and treatment of RVO patients.

关键词： deep learning artificial intelligence Swin Transformer diagnostic model retinal vein occlusion color fundus photographs