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Evaluating FFA and UWF SS-OCTA abnormalities in X-linked retinoschisis:a cross-sectional study of 46 eyes
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作者 Linyan Zhang Xiongze Zhang +4 位作者 Miner Yuan Limei Sun Xianghua Wu Shuya Ke Xiaoyan Ding 《Eye Science》 2024年第4期381-392,共12页
Aims:This study describes vascular abnormalities in X-linked retinoschisis(XLRS)using fundus fluorescein angiography(FFA)and ultra-widefield swept-source optical coherence tomography angiography(UWF SS-OCTA)to better ... Aims:This study describes vascular abnormalities in X-linked retinoschisis(XLRS)using fundus fluorescein angiography(FFA)and ultra-widefield swept-source optical coherence tomography angiography(UWF SS-OCTA)to better understand the disease's vascular features and impact.Methods:A retrospective cross-sectional study was conducted on 26 XLRS patients(46 eyes).A comprehensive ophthalmic examination was performed,including FFA and UWF SS-OCTA.FFA abnormalities were divided into peripheral schisis-associated and optic disc-associated types.Results:The mean age of patients was 11.3±6.5 years.Macular schisis appeared in 97.8%of eyes,peripheral schisis in 89.1%,and peripheral bullous schisis(PBS)in 67.39%.Major vascular changes identified by FFA included dendritic capillary dilation/leakage(91.3%),internal residual vessel leakage(78.3%),and capillary dropout/ischemia(71.7%).Minor changes included zonal retinal pigment epithelium(RPE)proliferation(6.5%),bridging vessels(4.4%),and capillary sheathing(4.4%).peripapillary choroidal neovascularization(PPCNV)was noted in 10.9%and situs inversus of optic disc in 13.0%of eyes.Additionally,situs in versus of optic disc and zonal RPE proliferation were novel findings.Major FFA changes correlated with broader PBS(P=0.045)(P<0.001)(P=0.003).Clock hours of PBS were significant predictors for internal residual vessel leakage(OR=0.30,P=0.03).No significant correlation was found between gene mutation type and FFA abnormalities(P=0.539).Conclusions:This study highlighted the significant prevalence(95.7%)of vascular abnormalities in XLRS and emphasized the importance of combining FFA with UWF SS-OCTA for comprehensive evaluation,enhancing the understanding of XLRS pathophysiology and aiding in targeted treatment approaches. 展开更多
关键词 X-linked retinoschisis retinal vascular changes FFA ultrawide field swept source OCT peripheral schisis
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X-linked juvenile retinoschisis: phenotypic and genetic characterization 被引量:2
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作者 Rasa Strupaite Laima Ambrozaityte +2 位作者 Loreta Cimbalistiene Rimvydas Asoklis Algirdas Utkus 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2018年第11期1875-1878,共4页
Juvenile X-linked retinoschisis(XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mu... Juvenile X-linked retinoschisis(XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian population. The patients demonstrated macular retinoschisis and typical cyst-like cavities on spectral-domain optical coherence tomography(SD-OCT) images. The mean central foveal thickness was 569.7 μm. Two patients presented with peripheral retinoschisis. Flash electroretinogram demonstrated a reduced b/a ratio(〈1.0) in all patients. RS1(NM_000330.3) gene coding exons Sanger sequencing was performed. RS1 c.599 G〉T(p.R200 L) mutation was detected in one case, showing to be pathogenic in silico analysis. c.(92_97) ins C(p.W33 fs) mutation was identified for another patient, indicating the variant is possibly damaging in silico analysis. The third case was identified with a pathogenic mutation c.422 C〉G(p.R141 H), HGMD CM981753. These are the first cases of XLRS in the Lithuanian population confirmed by molecular genotyping. Presented patients had a different genotype but similar phenotypic traits. 展开更多
关键词 X-linked retinoschisis RS1 mutation optical coherence tomography ELECTRORETINOGRAM
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Clinical observations of vitreoretinal surgery for four different phenotypes of X-linked congenital retinoschisis 被引量:2
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作者 Chen Zhao Qi Zhang +1 位作者 Hai-Ying Jin Pei-Quan Zhao 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2018年第6期986-990,共5页
AIM: To evaluate the outcomes of vitreoretinal surgery for four different phenotypes of X-linked retinoschisis (XLRS). METHODS: This study included thirty-one eyes of 25 patients who developed XLRS with severe... AIM: To evaluate the outcomes of vitreoretinal surgery for four different phenotypes of X-linked retinoschisis (XLRS). METHODS: This study included thirty-one eyes of 25 patients who developed XLRS with severe complications. Among the 31 eyes, there were 7 eyes with vitreous hemorrhage, 8 eyes with retinal detachment and vitreous hemorrhage, and 16 eyes with rhegmatogenous retinal detachment. All of the patients underwent standard three-port pars plana vitrectomy. All of the eyes were divided into 4 groups before surgery according to a modified classification scheme, with the first three groups as follows: group A, with foveal cystic schisis; group B with macular lamellar schisis; and group C with foveolamellar changes. Peripheral schisis was not present in these 3 groups; however, group D was a complex group with both macular and peripheral changes. One year after surgery, we analyzed the best corrected visual acuity and postoperative anatomical and functional outcomes of these 4 groups. RESULTS: There were 7 eyes in group A (22.6%), 1 eye in group B (3.2%), 15 eyes in group C (48.4%) and 8 eyes in group D (25.8%). Postoperative anatomical and functional outcomes were satisfactory at the last visit, while the mean visual acuity was increased to 0.27±0.11, with a significant difference (t=-1.049, P=0.000) compared with the results before surgery (0.1±0.08). Visual acuity was improved in 23 eyes (74.2%). Complications were found in three eyes: two eyes with proliferative vitreoretinopathy and traction retinal detachment 10 and 12mo after surgery, respectively; and one eye with vitreous hemorrhage 15mo after surgery. These eyes were in groups C and D. The retinas remained attached in these 3 eyes after reoperation. CONCLUSION: We should pay greater attention to XLRS with foveolamellar changes because it is the most changeable phenotype. Once complications occur, vitreoretinal surgery can significantly improve visual acuity and restore the anatomic structure of the retina. 展开更多
关键词 X-linked retinoschisis COMPLICATIONS vitreoretinal surgery
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R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma 被引量:1
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作者 Xiu-Feng Huang Chang-Sen Tu +3 位作者 Dong-Jun Xing De-Kang Gan Ge-Zhi Xu Zi-Bing Jin 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2014年第1期169-172,共4页
AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis(XLRS) and a rare condition of concomitant glaucoma. ·METHODS: Complete ophthalmic examinations were ... AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis(XLRS) and a rare condition of concomitant glaucoma. ·METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced. ·RESULTS: The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes,involving the macula and combined with foveal cystic change,reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure(IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W(c.304C】T) mutations in the affected male,and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism(c.576C】CT). ·CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references. 展开更多
关键词 X-linked retinoschisis GLAUCOMA RS1 gene MUTATION
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Surgical Treatment for Complications of Congenital Retinoschisis 被引量:1
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作者 游江 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2011年第3期404-408,共5页
This study examined the clinical features of complications of congenital retinoschisis and the clinical efficacy of vitreoretinal surgery in the treatment of these complications.The clinical efficacy of surgical treat... This study examined the clinical features of complications of congenital retinoschisis and the clinical efficacy of vitreoretinal surgery in the treatment of these complications.The clinical efficacy of surgical treatments was retrospectively analyzed in 10 patients with congenital retinoschisis(10 eyes) complicated with rhegmatogenous retinal detachment(n=5),vitreous hemorrhage(n=2) and macula-involving schisis(n=1).All the patients suffered foveal and peripheral schisis.They were treated with scleral buckling(n=1) or vitrectomy(n=9).After the surgical treatment,the retina was reattached in patients with rhegmatogenous retinal detachment;the refractive media became transparent in those with vitreous hemorrhage;the visual acuity in 80% of patients was improved;no remarkable progression of schisis was found;no severe operative complications occurred.It was concluded that vitreoretinal surgery in the treatment of complications of congenital retinoschisis is safe and effective,and helps improve and maintain the visual function. 展开更多
关键词 congenital retinoschisis COMPLICATION vitreoretinal surgery
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Retinoschisis at Macular Area in Highly Myopic Eye by Optic Coherence Tomography 被引量:2
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作者 Chunhui Jiang Wenji Wang Gezhi Xu Ling Wang 《眼科学报》 2006年第3期190-194,共5页
Purpose:To improve our understanding of macular schisis in highly myopic eyes. Methods:From 2002.6-2003.12, the highly myopic eyes(>6D) which has macular schisis found by OCT at our hospital were included in the st... Purpose:To improve our understanding of macular schisis in highly myopic eyes. Methods:From 2002.6-2003.12, the highly myopic eyes(>6D) which has macular schisis found by OCT at our hospital were included in the study. Each eye then received further examinations including visual acuity,refractive error and ultra-sonography. Then the results were analyzed to find the characteristic of the entity. Results:During that period, OCT found macular schisis in 38 highly myopic eyes from 36 patients. Their vision was low, and their average axial length and refractive error were 29.6mm and -10.5D respectively. The appearance and the area of the schisis are different among the eyes. But the schisis can be largely divided into two types: inner and outer schisis. They can exit independently or concurrently in the same eye. And the schisis was often accompanied by other macular findings, like retinal detachment, macular hole. Conclusion:Macular schisis in highly myopic eyes is not uncommon in the clinic. OCT is useful in its diagnosis. 展开更多
关键词 Highly myopia MACULAR retinoschisis Optic coherence tomography
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A pilot study on vitrectomy combined with scleral shortening for eyes with myopic macular retinoschisis——2y follow-up results
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作者 Peng Zhang Cun-Xi Ye +3 位作者 Ling-Xin Hou Yu-Hua Hao Kun Wang Qing-Li Shang 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2021年第2期263-268,共6页
AIM:To evaluate the effect of vitrectomy combined with scleral shortening for eyes with myopic macular retinoschisis.METHODS:Thirty-seven patients with myopic macular retinoschisis who underwent pars plana vitrectomy(... AIM:To evaluate the effect of vitrectomy combined with scleral shortening for eyes with myopic macular retinoschisis.METHODS:Thirty-seven patients with myopic macular retinoschisis who underwent pars plana vitrectomy(PPV)combined with scleral shortening were reviewed.Axial length(AL),the height of macular retinoschisis,the height of retinal detachment if existed,the diameter of macular hole if existed and best corrected visual acuity(BCVA)were obtained.The preoperative and postoperative parameters were compared.RESULTS:At postoperative 24 mo,the mean AL and height of macular retinoschisis were reduced significantly by 0.79 mm and 256.51μm(t=8.064,P<0.0001;Z=-5.086,P<0.0001)respectively.In addition,the mean height of retinal detachment and diameter of macular hole were also reduced significantly by 365.38μm and 183.68μm(Z=-4.457,P=0.000008;Z=-2.983,P=0.003)respectively.Meanwhile,the postoperative BCVA was improved markedly(Z=-2.126,P=0.033).CONCLUSION:Vitrectomy combined with scleral shortening is an effective surgical method for eyes with myopic macular retinoschisis,whether or not macular hole and retinal detachment are present. 展开更多
关键词 MACULA retinoschisis MYOPIA scleral shortening VITRECTOMY
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DIAGNOSIS AND TREATMENT FOR DEGENERATIVE RETINOSCHISIS OF MEDIUM TO HIGH MYOPIA IN YOUNG ADULTS PRIOR TO LASER-ASSISTED IN SITU KERATOMILEUSIS SURGERY
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作者 孙昕 冯佩丽 闫焱 《Medical Bulletin of Shanghai Jiaotong University》 CAS 2013年第1期38-40,共3页
Objective To discuss the characteristics of degenerative retinoschisis in young adults with medium to high myopia prior to laser-assisted in situ keratomileusis(LASIX) surgery and the significance of preventive photoc... Objective To discuss the characteristics of degenerative retinoschisis in young adults with medium to high myopia prior to laser-assisted in situ keratomileusis(LASIX) surgery and the significance of preventive photocoagulation.Methods A total of 32 eyes in 19 patients suffering from myopia combined with degenerative retinoschisis were included.The mean best-corrected visual acuity was 0.82±0.13 and the mean spherical equivalent of the subjective refraction was -(6.50±3.98) Diopter. The patients underwent preventive photocoagulation 1 month before the laser surgery for myopia.Results All the eyes that received preventive photocoagulation for retinoschisis had no further progression or retinal detachment during 4-year period of follow-up.Conclusion The degenerative retinoschisis in young adults should be recognized and treated with preventive photocoagulation.This may prevent further damage of visual field and other complications of slowly progressive retinoschisis after LASIK surgery. 展开更多
关键词 retinoschisis PHOTOCOAGULATION myopia laser-assisted in situ KERATOMILEUSIS
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Optic disc coloboma associated with macular retinoschisis:A case report
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作者 Wei Zhang Xiao-Yan Peng 《World Journal of Clinical Cases》 SCIE 2022年第20期6966-6973,共8页
BACKGROUND To report an unusual case of bilateral optic disc coloboma associated with macular retinoschisis in the left eye.CASE SUMMARY A 37-year-old woman presented with complaints of blurred and distorted vision in... BACKGROUND To report an unusual case of bilateral optic disc coloboma associated with macular retinoschisis in the left eye.CASE SUMMARY A 37-year-old woman presented with complaints of blurred and distorted vision in her left eye for more than 1 year.Fundus examination demonstrated choroidal atrophy around the optic disc in both eyes,with a cup-to-disc ratio of 0.9.Serous retinal detachment in the macular area of the left eye.Left eye macular blood flow imaging optical coherence tomography(Angio-OCT)showed macular retinal serous cleavage.En-face OCT showed that the canal gully-like structure formed by the defect of the optic disc nerve fiber layer between the optic disc and macula,serous detachment area was connected with the enlarged optic disc coloboma through the canal gully-like structure,and the fluid leaked from the enlarged and thinned optic disc coloboma into the retinal layer of the macular area.Patients with optic disc abnormalities and macular degeneration must be monitored appropriately.During the follow-up period,the use of optic disc stereography and 3D-OCT,en-face,and Angio-OCT imaging can clarify the correlation between macular retinoschisis and optic disc coloboma.CONCLUSION Macular retinoschisis may be owing to the combined force of disc edge loss,enlarged optic disc coloboma,the canal gully-like structure formed by the defect of the nerve fiber layer around the optic disc,and the traction of the posterior vitreous cortex. 展开更多
关键词 Optic disc coloboma Macular retinoschisis Optical coherence tomography Case report
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Retinoschisis and intravitreal ranibizumab treatment for myopic choroidal neovascularization 被引量:3
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作者 Huang Jianfeng Chen Tong Lu Yingyi Long Li Dai Hong 《Chinese Medical Journal》 SCIE CAS CSCD 2014年第11期2053-2057,共5页
Background Intravitreal ranibizumab injection is effecitve on treating myopic CNVs,but it could be a risk factor for developing more severe retinoschisis in eyes with preexisted retinoschisis and epiretinal membrane.T... Background Intravitreal ranibizumab injection is effecitve on treating myopic CNVs,but it could be a risk factor for developing more severe retinoschisis in eyes with preexisted retinoschisis and epiretinal membrane.This study aimed to explore the incidence and features of retinoschisis after intravitreal ranibizumab injection for myopic choroidal neovascularization.Methods Eighty-three eyes of 81 patients with choroidal neovascularization secondary to pathologic myopia were treated with intravitreal ranibizumab injection.The best corrected visual acuity and optical coherence tomography (OCT) images were recorded at baseline and every month thereafter.Central retina thickness and maximal retina thickness were measured.The subjects were divided into three groups.Eleven eyes that had retinoschisis and epiretinal membrane were in group 1,six eyes that had simple epiretinal membrane were in group 2,and 66 eyes that had neither retinoschisis nor epiretinal membrane were in group 3.Six contralateral eyes in group 1 which had retinoschisis and epiretinal membrane but were not treated with intravitreal ranibizumab injection were set as the control group.Results Seven of the 11 eyes in group 1 developed more severe retinoschisis,the mean maximal retinal thickness increased from (380.28±90.13) to (467.00±70.20) μm (P 〈0.05).The retinoschisis of all 6 eyes of the control group did not aggravate.Compared with the control group,the aggravation ratio of retinoschisis increased significantly (P 〈0.05).No new onset of retinoschisis took place in group 2 and group 3.Conclusion Intravitreal ranibizumab injection may be a risk factor for aggravation of retinoschisis in eyes with preexisted retinoschisis and epiretinal membrane. 展开更多
关键词 epiretinal membrane intravitreal ranibizumab injection myopic choroidal neovascularization OCT pathologic myopia retinoschisis
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Genetic and phenotypic characteristics of six Chinese families with X-linked juvenile retinoschisis
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作者 TIAN Rong JIANG Ru-xin CHEN You-xin 《Chinese Medical Journal》 SCIE CAS CSCD 2013年第22期4392-4394,共3页
X-linked juvenile retinoschisis (XLRS, OMIM: 312700) s an inherited X-linked recessive vitreoretinal dystrophy that is a leading cause of juvenile retinal degeneration, with a worldwide prevalence ranging from 1:5... X-linked juvenile retinoschisis (XLRS, OMIM: 312700) s an inherited X-linked recessive vitreoretinal dystrophy that is a leading cause of juvenile retinal degeneration, with a worldwide prevalence ranging from 1:5 000 to 1:25 000. Finland has the highest reported incidence. The condition is characterized by microcystic- like changes of the macular region of the retina and schisis, 展开更多
关键词 retinoschisis RS1 gene MUTATION
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海军招飞全面体检视网膜劈裂症一例
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作者 曹利群 高原 +2 位作者 秦力维 王静 崔蓓 《中华航空航天医学杂志》 CSCD 2014年第1期55-55,共1页
一、临床资料患者,男性,19岁,应届高中毕业生.视力:右眼1.0,左眼0.8.散瞳后左眼1点半方向周边部见1/2视盘直径大小局灶性白色团块状玻璃体混浊,周围见3个视盘直径大小、边界清晰的视网膜劈裂,病变区内层视网膜呈薄纱状隆起,可见多个裂... 一、临床资料患者,男性,19岁,应届高中毕业生.视力:右眼1.0,左眼0.8.散瞳后左眼1点半方向周边部见1/2视盘直径大小局灶性白色团块状玻璃体混浊,周围见3个视盘直径大小、边界清晰的视网膜劈裂,病变区内层视网膜呈薄纱状隆起,可见多个裂孔形成,血管呈树枝样改变,局部与上方混浊的玻璃体存在丝状连接.病变区以外的视网膜及黄斑区未见异常.诊断为左眼视网膜劈裂.结论:体检不合格.关键词:视网膜劈裂症(Retinoschisis);体格检查(Physical examination);人员选用(Personnel selection)分类号:R851. 展开更多
关键词 视网膜劈裂症(retinoschisis) 体格检查(Physical examination) 人员选用(Personnel selection)
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Is Rotational Trauma the Only Relevant Pathogenic Mechanism in Hemorrhagic Retinopathy of Shaken Baby Syndrome?
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作者 BS Arushi Tripathy Stephanie Dean +2 位作者 DO Joyce L de Jong Carl J Schmidt Rudy J Castellani 《Journal of Forensic Science and Medicine》 2018年第2期104-107,共4页
The pathogenesis of ocular hemorrhage in abusive head trauma/shaken baby syndrome(AHT/SBS)is complex.Whereas severe hemorrhagic retinopathy has a robust association with AHT/SBS,mild disease is less specific.We report... The pathogenesis of ocular hemorrhage in abusive head trauma/shaken baby syndrome(AHT/SBS)is complex.Whereas severe hemorrhagic retinopathy has a robust association with AHT/SBS,mild disease is less specific.We report the ocular and cerebral findings in an 8‑month‑old girl with spastic torticollis who presented following confessed,violent sagittal plane acceleration‑deceleration with impact.Autopsy revealed subdural hemorrhage over the convexities,ischemic brain injury,and preexisting polymicrogyria.Ocular examination showed extensive but unilateral retinal hemorrhage,extending broadly to the ora serrata,with perimacular retinal folds and retinoschisis.The retina of the right globe was entirely normal.The findings in this case,suggest that movement of the globe within the orbit with acceleration‑deceleration,in this case greater on one side due to torticollis,may be the primary factor for severe hemorrhagic retinopathy associated with AHT/SBS.The findings argue against putative global mechanisms,such as intracranial hypertension. 展开更多
关键词 Abusive head trauma forensic neuropathology forensic science hemorrhagic retinopathy retinal hemorrhage retinoschisis shaken baby syndrome
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