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

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

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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(Pbserved 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

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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 Pgery,the concentrations of VEgF,MCP-1,IL-6,and IL-8 in the aqueous humor were significantly lower in the combined group than those of the aflibercept group(all PbCVA and CMT values of the two groups were statistically different after 1 and 2mo of treatment(Pgnificant after 3mo of treatment(P>0.05).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

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Intraocular lens power calculation in eyes with previous corneal refractive surgery

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eye and Vision 2018年第1期5卷 172-181页

作者： giacomo Savini Kenneth J.Hoffer g.b.bietti eye foundation RomeItaly. Stein eye Institute University of CaliforniaLos AngelesCAUSA.3 St.Mary’s Eye CenterSanta MonicaCAUSA

background:This review aims to explain the reasons why intraocular lens(IOL)power calculation is challenging in eyes with previous corneal refractive surgery and what solutions are currently available to obtain more accurate ***:After IOL implantation in eyes with previous LASIK,PRK or RK,a refractive surprise can occur because (i)the altered ratio between the anterior and posterior corneal surface makes the keratometric index invalid;(ii)the corneal curvature radius is measured out of the optical zone;and (iii)the effective lens position is erroneously predicted if such a prediction is based on the post-refractive surgery corneal *** methods are currently available to obtain the best refractive outcomes in these eyes,even when the perioperative data(*** corneal power and surgically induced refractive change)are not *** this review,we describe the most accurate methods based on our clinical ***:IOL power calculation after myopic corneal refractive surgery can be calculated with a variety of methods that lead to relatively accurate outcomes,with 60 to 70%of eyes showing a prediction error within 0.50 diopters.

关键词： Cataract Intraocular lens power LASIK PRK Excimer laser Corneal surgery Keratometry

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Neuroinflammation as a target for glaucoma therapy

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Neural Regeneration Research 2019年第3期14卷 391-394页

作者： Adornetto Annagrazia Rossella Russo Parisi Vincenzo Department of Pharmacy Health and Nutritional Sciences Section of Preclinical and Translational Pharmacology University of Calabria Visual Neurophysiology and Neurophthalmology Research Unit IRCCS g.b.bietti foundation

The pathogenesis of glaucoma is still not fully clarified but a growing body of evidence suggests that neuroinflammation and immune response are part of the sequence of pathological events leading to the optic neuropathy. Indeed, inflammation-involving the activation and proliferation of resident glial cells(astrocytes, Muller cells and microglia) and the release of a plethora of anti-and pro-inflammatory cytokines, chemokines and reactive oxygen species-has been reported as common features in clinical and experimental glaucoma. In the insulted retina, as for other neuronal tissues, pathogenic and reparative aspects coexist in the inflammatory process, with extent and persistency affecting the final outcome. In view of this, therapies aimed at modulating the immune and inflammatory responses may represent a promising approach for limiting the optic nerve damage and the loss of retinal ganglion cells associated with glaucoma.

关键词： glaucoma retinal ganglion cells neuroinflammation neurodegeneration microglia oxidative stress inflammasome immune response

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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(Pghest prevalence in 6th decade but PACg was higher at 7th *** probability of angle opening was 95.93%,90.32%and 63.36%in PACS,PAC and PACg eyes 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

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Aflibercept combined with triamcinolone acetonide in the treatment of diabetic macular edema:optical coherence tomography and optical coherence tomography angiography

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International Journal of Ophthalmology(English edition) 2024年第4期17卷 670-675页

作者： De-Shuang Li Hong-Xia Liao Chuan-He Zhang Jian-guo Huang Wei Chen Jing-Lin Zhang bo Qin Shenzhen Aier eye Hospital Aier Eye HospitalJinan UniversityShenzhen 518031Guangdong ProvinceChina Department of Ophthalmology the University of Hong Kong-Shenzhen HospitalShenzhen 518000Guangdong ProvinceChina guangzhou Aier eye Hospital Jinan UniversityGuangzhou 510040Guangdong ProvinceChina

AIM:To analyze the relationship between optical coherence tomography(OCT)and OCT angiography(OCTA)imaging in patients with diabetic macular edema(DME)who are treated with a combination of aflibercept and triamcinolone acetonide(TA).METHODS:A total of 76 eyes newly diagnosed DME were included in this *** were randomly assigned to receive either aflibercept or a combination of aflibercept and *** once a month for a total of three *** macular thickness(CMT),number of hyperreflective foci(HRF),height of subretinal fluid(SRF),and area of foveal avascular zone(FAZ)were evaluated using OCT and OCTA at baseline and after each monthly ***:both groups showed improvement in best corrected visual acuity(bCVA)and reduction in macular edema after treatment,and the difference in bCVA between the two groups was statistically significant after each treatment(Pbetween the two groups was statistically significant after the first two injections(Pbut not after the third injection(P=0.875).The number of HRF(1mo:7.41±8.25 vs 10.86±7.22,P=0.027;2mo:5.33±6.13 vs 9.12±8.61,P=0.034;3mo:3.58±3.00 vs 6.37±5.97,P=0.007)and height of SRF(1mo:82.39±39.12 vs 105.77±42.26μm,P=0.011;2mo:36.84±10.02 vs 83.59±37.78μm,Pbined group were statistically significant less than aflibercept group after each injection,while the area of FAZ showed no significant change before and after treatment in both ***:The combination therapy of aflibercept and TA shows more significant effects on DME eyes with decreased HRF and ***,both aflibercept and combination therapy show no significant change in the area of FAZ.

关键词： diabetic macular edema optical coherence tomography optical coherence tomography angiography hyperreflective foci subretinal fluid foveal avascular zone aflibercept

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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

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Effect of orthokeratology on precision and agreement assessment of a new sweptsource optical coherence tomography biometer

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eye and Vision 2020年第1期7卷 119-127页

作者： bao Shu Fangjun bao giacomo Savini Weicong Lu Ruixue Tu Haisi Chen benhao Song Qinmei Wang Jinhai Huang School of Ophthalmology and Optometry and eye Hospital Wenzhou Medical University270 West Xueyuan RoadWenzhou 325027ZhejiangChina Key Laboratory of Vision Science Ministry of HealthWenzhouZhejiangPeople’s Republic of China g.b.bietti foundation IRCCS RomeItaly

background:To evaluate the effect of orthokeratology on precision of measurements in children using a new swept-source optical coherence tomography(SS-OCT)optical biometer(OA-2000),and agreement between its measurements and those provided by the commonly used IOLMaster based on partial coherence interferometry(PCI).Methods:This study recruited fifty-one eyes of 51 normal children(8–16 years).An operator took measurements with the two ***,a second operator took measurements with the SS-OCT *** orthokeratology was performed for one month,the same operators repeated the same *** length(AL),mean keratometry(Km)at 2.5 mm and 3.0 mm diameters(Km2.5 and Km3.0),central corneal thickness(CCT),anterior chamber depth(ACD),lens thickness(LT)and corneal diameter(CD)were ***:With the SS-OCT optical biometer,the test-retest repeatability of AL measurements was*** 95%limits of agreement of difference between the two devices for CD parameter were up to 1.53 *** orthokeratology,the fluctuation ranges of difference for Km3.0 measurement was 1.11 times higher than before orthokeratology,while the absolute values of difference for AL,Km2.5,ACD and CD measurements were ***:before and after orthokeratology,the SS-OCT biometer showed high repeatability and reproducibility for all *** orthokeratology contact lenses affected the agreement between SS-OCT and PCI biometers for Km3.0 *** CD measurement showed poor agreement between the two devices.

关键词： Swept source optical coherence tomography Orthokeratology Precision Agreement Children

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Navigating reflux disease after achalasia treatments:balancing risks and benefits

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World Journal of gastroenterology 2024年第21期30卷 2740-2743页

作者： Ewen A griffiths Enoch Wong Department of Upper gastrointestinal Surgery University Hospitals Birmingham NHS Foundation TrustBirmingham B152GWWest MidlandsUnited Kingdom Department of Immunology and Immunotherapy University of BirminghamBirmingham B152TTWest MidlandsUnited Kingdom

The peroral endoscopic myotomy(POEM)procedure has revolutionized the management of achalasia in many centres around the world as it offers patients a minimally invasive endoscopic solution to their dysphagia caused by *** its success in alleviating dysphagia,concerns regarding postoperative gastroesophageal reflux disease have emerged as a pertinent issue which are not fully *** this study,Nabi et al have comprehensively reviewed the topic of the prediction,prevention and management of gastroesophageal reflux after *** is a purely endoscopic procedure which is usually performed without any anti-reflux *** patients may be better served by a laparoscopic Heller’s myotomy and fundoplication and it is important that gastroenterologists and surgeons provide comprehensive risks and benefits of each achalasia treatment option so that patients can decide what treatment is best for *** article by Nabi et al provides a comprehensive review of the current status of this issue to allow these discussions to occur.

关键词： Achalasia gastro-esophageal reflux disease Laparoscopic heller’s myotomy Peroral endoscopic myotomy Fundoplication

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