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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

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

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

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

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

Relative peripheral refraction in school children with different refractive errors using a novel multispectral refraction topographer

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International Journal of Ophthalmology(English edition) 2024年第8期17卷 1477-1482页

作者： Hui-Ling Hu Serena Zhe-Chuang Li Ai-Ying Feng Hao-Xi Zhong Jing-Feng Mu Mei-Zhou Liu Shenzhen eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina NIMO Ophthalmology Research institute Beijing 100176China

AIM:To compare relative peripheral refraction(RPR)in Chinese school children with different refractive errors using multispectral refraction topography(MRT).METHODS:A total of 713 eyes of primary school children[172 emmetropia(E),429 low myopia(LM),80 moderate myopia(MM),and 32 low hypermetropia(LH)]aged 10 to 13y were *** were measured using MRT without *** results showed RPR at 0-15°(RPR 0-15),15°-30°(RPR 15-30),and 30°-45°(RPR 30-45)annular in the inferior(RPR-I),superior(RPR-S),nasal(RPR-N),and temporal(RPR-T)*** equivalent(SE)was detected and calculated using an ***:There were significant differences of RPR 15-30 between groups MM[0.02(-0.12;0.18)]and LH[-0.13(-0.36;0.12)](Peyes and emmetropia,and the differences are negatively correlated with SE.

关键词： relative peripheral refraction myopia school children multispectral refraction topography

New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 107-112页

作者： Wen-Chao Cao Qing-Shan Chen Run Gan Tao Huang Xiao-He Yan The Second Clinical Medical College Jinan UniversityShenzhen 518040Guangdong ProvinceChina Shenzhen eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChin

AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in ***:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 *** sequence capture array technique was used to screen potential pathologic *** chain reaction and Sanger sequencing were used to confirm the screening ***:Fundus examination showed round macular lesions appeared in both *** coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right *** autofluorescence showed patchy hyper-autofluorescence in the *** field examination indicates central defects in both ***(ERG)and multifocal ERG showed no obvious *** fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left *** found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous *** variants are likely pathogenic according to the ACMG *** imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal ***:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.

关键词： maculopathy recessive compound heterozygous variants RP1L1

Bibliometric analysis of hotspots and trends of global myopia research

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International Journal of Ophthalmology(English edition) 2024年第5期17卷 940-950页

作者： Xing-Yang Wu Hui-Hui Fang Yan-Wu Xu Yan-Ling Zhang Shao-Chong Zhang Wei-Hua Yang Shenzhen eye institute Shenzhen Eye HospitalJinan UniversityShenzhen 518040Guangdong ProvinceChina School of Future Technology South China University of TechnologyGuangzhou 510641Guangdong ProvinceChina

AIM:To gain insights into the global research hotspots and trends of ***:Articles were downloaded from January 1,2013 to December 31,2022 from the Science Core Database website and were mainly statistically analyzed by bibliometrics ***:A total of 444 institutions in 87 countries published 4124 *** 2013 and 2022,China had the highest number of publications(n=1865)and the highest H-index(61).Sun Yat-sen University had the highest number of publications(n=229)and the highest H-index(33).Ophthalmology is the main category in related *** from 2020 to 2022 highlight keywords of options and reference,child health(pediatrics),myopic traction mechanism,public health,and machine learning,which represent research ***:Myopia has become a hot research *** and Chinese institutions have the strongest academic influence in the field from 2013 to *** main driver of myopic research is still medical or *** study highlights the importance of public health in addressing the global rise in myopia,especially its impact on children’s *** present,a unified theoretical system is still *** surgical and therapeutic solutions must be proposed for people with different characteristics to manage and intervene refractive *** addition,the benefits of artificial intelligence(AI)models are also reflected in disease monitoring and prediction.

关键词： bibliometric analysis myopia global trends

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