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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

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

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

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

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

Modified streptozotocin-induced diabetic model in rodents

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Animal Models and Experimental Medicine 2024年第5期 777-780页

作者： Anton Lennikov Farris ElZaridi Menglu Yang Department of Ophthalmology Schepens Eye Research Institute Mass Eye and Ear Harvard Medical School

Streptozotocin(STZ)-i nduced type I diabetes mellitus(DM) models have been pivotal in diabetes research due to their ability to mimic the insulin-dependent hyperglycemia akin to human type I diabetes. However, these models often suffer from poor induction rates and low survival post-STZ induction, especially in long-term experiments, necessitating insulin supplementation, which introduces additional variables to experiments. To address this, we present a novel modification to the STZ-i nduced DM model in C57BL/6J mice to improve survival rates without insulin supplementation. Our method involves non-fasting, low-dose STZ injections dissolved in pHneutral phosphate buffer saline instead of acidic sodium citrate buffer, administered over 5 days. We observed hyperglycemia induction in 94.28% of mice within a week post-i njection, with stable high blood glucose levels, stable body weight, and minimal mortality up to 21 weeks. Notably, omitting 10% sucrose in water and fasting did not affect hyperglycemia induction. Our findings suggest that the modified protocol not only decreases the experimental effort of the researchers, but reduces animal stress and mortality, thus enhancing experimental outcomes and animal welfare. By optimizing the STZ-i nduced DM model in C57BL/6J mice, our study provides a valuable resource for researchers aiming to study diabetes and its complications while minimizing experimental variability and animal usage.

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