Retinal detachment

视网膜脱离
  • 文章类型: Journal Article
    描述在5期家族性渗出性玻璃体视网膜病变(FEVR)伴漏斗状视网膜脱离(RD)的玻璃体切除术期间,氰基丙烯酸酯胶在封闭医源性视网膜破裂(IRB)中的作用。
    从2020年7月至2022年1月,在玻璃体切除术期间,诊断为5期FEVR的9例患者的9只眼睛用氰基丙烯酸酯胶治疗IRB。临床记录,包括病人信息,手术过程,和后续检查,是回顾性收集的。总结了解剖学结果和视觉结果。
    手术平均年龄为19.6个月(范围:3.8-41.1个月)。术后平均随访时间为12.5个月(范围:9.8-18.8个月)。手术前,五只眼睛的RD为开放漏斗,四只眼睛的RD为封闭漏斗。在九只眼睛中尽可能彻底地去除所有视网膜前纤维增生膜。IRB在两只眼睛的后极和七只眼睛的周边视网膜形成。所有的IRB在它们出现时被氰基丙烯酸酯胶成功地密封。在手术后的最后一次访问中,八只眼睛有部分视网膜复位,没有纤维化组织的进展,一只眼睛完全视网膜再脱离。在这项研究中,稳定的解剖学结局率为88.9%(8/9)。可用于七只眼睛的视觉测试显示了五只眼睛的光感知,两只眼睛没有光感知。随访期间未发现严重的围手术期胶水相关并发症。
    氰基丙烯酸酯胶的应用可能是5期FEVR手术中IRB的替代疗法,而长期疗效和安全性仍需进一步研究。
    UNASSIGNED: To describe the role of cyanoacrylate glue in sealing iatrogenic retinal breaks (IRBs) during vitrectomy in stage 5 familial exudative vitreoretinopathy (FEVR) with funneled retinal detachment (RD).
    UNASSIGNED: Nine eyes of nine patients diagnosed as stage 5 FEVR were treated with cyanoacrylate glue for IRBs during vitrectomy from July 2020 to January 2022. The clinical records, including patient information, surgical process, and follow-up examinations, were collected retrospectively. Anatomical outcomes and visual outcomes were summarized.
    UNASSIGNED: The average age at surgery was 19.6 months (range: 3.8-41.1 months). The mean post-operative follow-up period was 12.5 months (range: 9.8-18.8 months). Before surgery, five eyes had an open-funnel RD and four eyes had a closed-funnel RD. All the preretinal fibroplasia membranes were removed as thoroughly as possible in the nine eyes. IRBs formed at the posterior pole in two eyes and peripheral retina in seven eyes. All the IRBs were sealed successfully by the cyanoacrylate glue when they appeared. At the final post-operative visit, eight eyes had partial retinal reattachment without progression of fibroplasia tissues, while one eye had total retinal redetachment. The rate for stable anatomical outcome was 88.9% (8/9) in this study. The visual testing available for seven eyes demonstrated light perception in five eyes and no light perception in two eyes. No severe perioperative glue-related complications were noted during the follow-ups.
    UNASSIGNED: The application of cyanoacrylate glue may be an alternative therapy for IRBs in stage 5 FEVR surgeries, while the long-term efficacy and safety still need further investigation.
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  • 文章类型: Journal Article
    目的:探讨既往有晶状体性视网膜脱离(RT)病史的患者白内障摘除后视网膜撕裂(RT)和视网膜脱离(RD)的发生率和预后。
    方法:回顾性病例系列。
    方法:用激光光凝或冷冻疗法成功治疗并随后接受白内障手术的法克眼。
    方法:对2012年4月1日至2023年5月31日期间接受RTs治疗的有晶状体眼进行了回顾性回顾。排除包括白内障摘除前的玻璃体视网膜手术和白内障手术后不到6个月的随访。
    方法:白内障手术后RTs和RD的发生率,以及视觉和解剖结果。
    结果:在接受RTs治疗的12,109只眼中,1039只(8.6%)眼接受了白内障手术。排除后,研究了660例患者的713只眼。平均值(标准偏差,SD)白内障手术后的随访期为34.8(24.6)个月,中位随访时间为239天和246天,以达到新的RT或RD发展。白内障术后RT和RD的总诊断发生率为7.3%(52/713)(2.9%和4.3%,分别),一年发病率为5.6%(2.2%和3.4%,分别)。多变量回归分析确定年轻个体中RT/RD的风险较高(比值比[OR]1.034;95%置信区间[CI]1.004-1.065,P=0.028),男性(OR2.058;95%CI1.110-3.816,P=0.022),激光治疗和白内障手术间隔较短的患者(OR1.001;95%CI1.001-1.001,P=0.011)。在3个月时,25只眼(80.6%)实现了RD修复的单次手术解剖成功,最终重新附着率为100%。RT的中位最终logMAR视力为0.10(20/25),显示白内障手术后没有明显变化,RD为0.18(20/30),白内障手术后的严重恶化。
    结论:白内障手术后一年,先前治疗过的RT患者的RT和RD诊断率相对较高,发生在18只眼睛中的近1只。在年轻人中发现了更高的风险,男性,以及初始RT治疗和白内障手术之间间隔较短的患者。RD修复取得了良好的解剖效果,但是视力下降了。
    OBJECTIVE: To investigate the incidence and outcomes of retinal tear (RT) and retinal detachment (RD) after cataract extraction in patients with a history of previous phakic RT.
    METHODS: Retrospective case series.
    METHODS: Phakic eyes with RT that were successfully treated with laser photocoagulation or cryotherapy and subsequently underwent cataract surgery.
    METHODS: A retrospective review of phakic eyes treated for RTs between April 1, 2012 and May 31, 2023 was performed. Exclusions included prior vitreoretinal surgery before cataract removal and follow-up of less than 6 months post-cataract surgery.
    METHODS: The incidence of RTs and RDs after cataract surgery, along with visual and anatomic outcomes.
    RESULTS: Of 12,109 phakic eyes treated for RTs, 1039 (8.6%) eyes underwent cataract surgery. After exclusions, 713 eyes of 660 patients were studied. The mean (standard deviation, SD) follow-up period post-cataract surgery was 34.8 (24.6) months with a median of 239 and 246 days to a new RT or RD development. The overall incidence for diagnosis of post-cataract surgery RT and RD was 7.3% (52/713) (2.9% and 4.3%, respectively), with a one-year incidence of 5.6% (2.2% and 3.4%, respectively). Multivariable regression analysis identified a higher risk of RT/RD among younger individuals (odds ratio [OR] 1.034; 95% confidence interval [CI] 1.004-1.065, P=0.028), males (OR 2.058; 95% CI 1.110-3.816, P=0.022), and those with shorter interval between laser treatment and cataract surgery (OR 1.001; 95% CI 1.001-1.001, P=0.011). Single surgery anatomic success for the RD repair was achieved in 25 eyes (80.6%) at 3 months, with a 100% final reattachment rate. The median final logMAR visual acuity was 0.10 (20/25) for RT, showing no significant change from post-cataract surgery, and 0.18 (20/30) for RD, a significant worsening from after cataract surgery.
    CONCLUSIONS: One year post-cataract surgery, the rate of diagnosed RT and RD in patients with previously treated RTs was relatively high, occurring in nearly 1 in 18 eyes. Higher risk was noted among younger individuals, males, and patients with a shorter interval between initial treatment for RT and cataract surgery. RD repair achieved good anatomical results, but vision declined.
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  • 文章类型: Journal Article
    目的:我们的研究旨在评估节段性巩膜扣带术(SB)治疗视网膜脱离(RD)的手术效果和临床特征,阐明分段SB作为当前时代特定情况下的重要选择的作用。
    方法:我们回顾性回顾了2008年11月至2020年12月间接受节段性巩膜扣带术的128眼原发性孔源性RD。记录并分析临床特征和成功率。
    结果:共纳入128只眼。病人的年龄从12岁到72岁不等,平均年龄为45岁。大多数眼睛是有晶状体的(97%)。关于休息的类型,47%是洞,皮瓣撕裂68例(53%)。中断位置是时间上的(54%),下时间(31%),上鼻部(9.5%),和下鼻(5.5%)。适用的SB的长度范围为3.5至8.0小时,中位数为6.0。121只眼睛取得了初步成功,7只眼复发。所有复发性RD病例在接受继发性VT后重新连接。失败的原因包括2次中断重新打开,1错过休息,增生性玻璃体视网膜病变4只眼。节段SB的单次手术解剖成功率(SSAS)为94.5%。最终成功率为100%。
    结论:对于phakic,在我们的研究中,复杂性低的视网膜脱离,节段性巩膜扣带术是一种手术选择,具有较高的主要成功率和较低的并发症发生率。
    OBJECTIVE: Our study aims to evaluate the surgical outcomes and clinical features of retinal detachment (RD) cases treated with segmental scleral buckling (SB), elucidating the role of segmental SB as a vital option in specific situations during the current era.
    METHODS: We retrospectively reviewed 128 eyes with primary rhegmatogenous RD that underwent segmental scleral buckling between November 2008 and December 2020. Clinical features and success rates were recorded and analyzed.
    RESULTS: A total of 128 eyes were included. The patient\'s ages ranged from 12 to 72 years, with a median age of 45. Most of the eyes were phakic (97%). Regarding the type of break, 47% were holes, and flap tears were found in 68 cases (53%). The break locations were superior-temporal (54%), inferior-temporal (31%), superior-nasal (9.5%), and inferior-nasal (5.5%). The length of the SB applied ranged from 3.5 to 8.0 clock hours, with a median of 6.0. Primary success was achieved in 121 eyes, and recurrence occurred in 7 eyes. All recurrent RD cases reattached after undergoing secondary VT. The causes of failure included 2 break reopens, 1 missed break, and 4 eyes with proliferative vitreoretinopathy. The single-surgery anatomic success (SSAS) rate for segmental SB was 94.5%. The final success rate was 100%.
    CONCLUSIONS: For phakic, low complexity retinal detachment in our study, segmental scleral buckling emerges as a surgical option with a high primary success rate and a lower incidence of complications.
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  • 文章类型: Journal Article
    为了评估视网膜脱离(RD)的延迟表现,其从旅行距离到转诊医院(TDH)的关联,从症状发作到咨询(SO-C)的时期,增生性玻璃体视网膜病变(PVR)严重程度,6个月随访(6mo-FA)。
    基于病历的回顾性审查。年龄,性别,初始最佳矫正视力(BCVA),TDH,SO-C,PVR型,记录6mo-FA。采用多变量有序logistic回归分析TDH与SO-C之间的关联,以及SO-C和PVR严重程度。根据TDH采用多因素logistic回归分析6mo-FA。多元线性回归用于评估初始BCVA和TDH之间的关联。年龄和性别包括在所有多变量校正中。
    共有387例患者有RD,其中59.2%主要为男性,平均年龄±SD为46.3±13.9岁。小于3/60的初始BCVA为81.1%。SO-C和TDH的平均值为183.5±456天和160.9±364km,分别。超过120km距离的TDH与较长的SO-C显着相关(校正OR1.78;CI95%1.09-2.92)。17.6%的患者发现PVR。31-60天的SO-C与PVR严重程度显着相关(校正OR4.28;CI95%1.47-12.51)。超过120km距离的TDH与6mo-FA显着相关(校正OR0.46;CI95%0.27-0.93)。
    长TDH与从症状发作到咨询和6mo-FA的较长时间显着相关。因此,可获得的眼部护理对于及时转诊RD病例至关重要。
    UNASSIGNED: To assess the delayed presentation of Retinal Detachment (RD), its association from travel distance to the referral hospital (TDH), the period from symptom onset to consultation (SO-C), Proliferative vitreoretinopathy (PVR) severity, and 6 months follow-up attendance (6mo-FA).
    UNASSIGNED: A retrospective review based on medical records. Age, sex, initial best-corrected visual acuity (BCVA), TDH, SO-C, PVR type, and 6mo-FA were recorded. Multivariable ordered logistic regression was used to analyze the association between TDH and SO-C, and SO-C and PVR severity. Multivariable logistic regression was used to analyze 6mo-FA according to TDH. Multiple linear regression was used to assess the association between initial BCVA and TDH. Age and sex were included in all multivariable adjustments.
    UNASSIGNED: A total of 387 patients had RD with 59.2% predominantly males and the mean age±SD was 46.3±13.9 years. The initial BCVA of less than 3/60 was 81.1%. The averages of SO-C and TDH were 183.5±456 days and 160.9±364 km, respectively. The TDH of more than 120 km distance was significantly associated with longer SO-C (adjusted OR 1.78; CI 95% 1.09-2.92). PVR was noted in 17.6% of patients. The SO-C of 31-60 days was significantly associated with PVR severity (adjusted OR 4.28; CI 95% 1.47-12.51). The TDH of more than 120 km distance was significantly associated with 6mo-FA (adjusted OR 0.46; CI 95% 0.27-0.93).
    UNASSIGNED: Long TDH was significantly associated with a longer period from symptom onset to consultation and 6mo-FA. Hence, accessible eye care is essential to refer RD cases in a timely fashion.
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  • 文章类型: Journal Article
    目的:研究增生性玻璃体视网膜病变(PVR)的发生率和危险因素,这些患者曾发生过视网膜脱离(RRD)并伴有PVR。
    方法:多中心,回顾性观察性研究。
    方法:通过Vestrum健康数据库方法:PVR发展的危险因素,确定了2015年至2023年之间视网膜脱离和PVR的眼睛,在同伴眼中特别记录了PVR,性别,年龄,镜头状态,呈现和最终的视力,进行了评估。
    方法:术后6个月PVR发展的几率。
    结果:在57,264例患者中,11%的人至少一只眼睛有PVR。在初次RRD后未发生PVR的50,989例患者中,4,834在同伴眼中发展了RRD。这些患者中的166人在他们的第二只眼睛中发生了PVR,在另一只眼睛中的PVR率为3%。在原发性RRD修复后发生PVR的6,275例患者中,这些患者中的406人继续在他们的眼睛中发展RRD。这些患者中的42例第二眼发生PVR,PVR率为10%。回归模型还包括年龄,性别和视力的比值比为3.42(p<0.001)。PVR发展的比值比普遍随年龄的增长而下降。假晶状体患者的PVR发展优势比较高,1.48(p=0.017)。初始VA20/40-20/80患者的比值比为2.15(p=0.003)。VA低于20/200的患者PVR发展的比值比为2.89(p<0.001)。
    结论:有一只眼PVR病史的患者,与没有PVR病史的患者相比,RRD后第二眼的PVR发生率约为3.5倍。如果患者的第二只眼睛有RRD,这一发现可能会影响手术决策和预防性抗PVR治疗的使用。有PVR病史的患者的第二只眼的最终视力优于没有PVR病史的患者的第二只眼,这可能表明外科医生已经采取措施防止患者的第二只眼发生PVR。
    OBJECTIVE: To examine the incidence and risk factors of proliferative vitreoretinopathy (PVR) in the patients who develop rhegmatogenous retinal detachment (RRD) in their fellow eye after having a prior RRD complicated by PVR.
    METHODS: Multicenter, retrospective observational study.
    METHODS: Eyes with retinal detachment and PVR between 2015 and 2023 were identified through the Vestrum Health Database METHODS: Risk factors for PVR development, specifically documented PVR in the fellow eye, gender, age, lens status, and presenting and final visual acuity, were evaluated.
    METHODS: Odds ratio for PVR development during 6 months post-operative period.
    RESULTS: Of 57,264 patients, 11% had PVR in at least one eye. Of the 50,989 patients who did not develop PVR after the initial RRD, 4,834 developed RRD in the fellow eye. 166 of these patients developed PVR in their second eye for a PVR rate of 3% in the fellow eye. Of the 6,275 patients who developed PVR after primary RRD repair, 406 of these patients went on to develop RRD in their fellow eye. 42 of these patients developed PVR in their second eye for a PVR rate of 10%. A regression model that also included age, gender and visual acuity led to an odds ratio of 3.42 (p<0.001). The odds ratio of PVR development generally decreased with age. Pseudophakic patients had a higher odds ratio for PVR development, 1.48 (p=0.017). Initial patients with VA 20/40-20/80 had an odds ratio of 2.15 (p=0.003). Patients with VA worse than 20/200 had an odds ratio of 2.89 for PVR development (p<0.001).
    CONCLUSIONS: Patients with a history RRD with PVR in one eye, have approximately 3.5 times higher rate of PVR in their second eye after RRD compared with patients without a history of PVR. This finding potential impacts surgical decisions and use of prophylactic anti-PVR therapy if the patient\'s second eye has RRD. The final visual acuity in second eye of patients with history PVR is better than for the second eye of patients with no history of PVR which may indicate surgeons are already taking steps to prevent PVR in the patient\'s second eye.
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    文章类型: Case Reports
    一名84岁的男子表现出右眼视力下降。经过初步检查,右眼和左眼视力分别为0.03和1.2;此外,右眼和左眼眼压分别为12mmHg和13mmHg,分别。检查发现右眼前房浅,前房炎症,玻璃体混浊,和明显的视网膜脉络膜脱离.光学相干断层扫描(OCT)显示视网膜脱离(RD)和脉络膜褶皱;B超检查(B-scan)显示RD以及巩膜增厚,Tenon's间隙有液体。荧光眼底血管造影术显示视盘高度荧光,右眼血管通透性过高。左眼没有眼外症状或异常。右眼轴测量为23.4mm,由于位置变化,没有明显的视网膜下液迁移。因此,患者被诊断为与后巩膜炎相关的全葡萄膜炎,并立即开始使用40毫克泼尼松龙,改善了他的症状.然而,在治疗后3个月,观察到脉络膜皱褶,并在20mg泼尼松龙时重新开始。脉络膜褶皱随后消失了,右眼目前视力为0.3,无复发。我们的发现表明,通过B扫描和及时的全身类固醇给药可以准确诊断后巩膜炎。
    An 84-year-old man presented with decreased right-eye visual acuity. Upon initial examination, the rightand left-eye visual acuities were 0.03 and 1.2, respectively; moreover, the right- and left-eye intraocular pressure was 12 mmHg and 13 mmHg, respectively. Examination revealed a shallow anterior chamber of the right eye, anterior chamber inflammation, vitreous opacity, and marked retinochoroidal detachment. Optical coherence tomography (OCT) revealed retinal detachment (RD) and choroidal folds; moreover, B-scan ultrasonography (B-scan) showed RD as well as thickened sclera with fluid in Tenon\'s space. Fluorescent fundus angiography revealed hyperfluorescence in the optic disc and vascular hyperpermeability in the right eye. The left eye lacked extra-ocular symptoms or abnormalities. The right ocular axis measured 23.4 mm with no apparent subretinal fluid migration due to positional changes. Accordingly, the patient was diagnosed with panuveitis associated with posterior scleritis and immediately started on 40 mg prednisolone, which improved his symptoms. However, at 3 post-treatment months, choroidal folds were observed and was restarted on 20 mg prednisolone. The choroidal folds subsequently disappeared, with a current visual acuity of 0.3 in the right eye and no recurrence. Our findings indicated the utility of accurate diagnosis of posterior scleritis by B-scan and prompt systemic steroid administration.
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  • 文章类型: Case Reports
    一个12岁的男孩,患有与特应性结膜炎和鼻炎相关的严重且控制不佳的特应性皮炎(AD),表现为右无痛视力模糊两周。在检查中,右眼视力为1/60,1级相对传入瞳孔缺损(RAPD)。前节检查显示前葡萄膜炎伴有致密的后囊下白内障和模糊的眼底视图。B超提示浅的全视网膜脱离。术中,发现了大量的视网膜透析。本文强调了患有潜在AD的儿童对视网膜透析的高度怀疑的必要性,以及良好控制这种全身状况以预防眼部发病的重要性。
    A 12-year-old boy with underlying severeand poorly controlled atopic dermatitis (AD) associated with atopic conjunctivitis and rhinitis presented with a right painless blurring of vision for two weeks. On examination, his right eye visual acuity was 1/60,with grade 1 relative afferent pupillary defect (RAPD). Anterior segment examination revealed anterior uveitis with dense posterior subcapsular cataract and hazy fundus view. B-scan ultrasound suggested a shallow total retinal detachment. Intraoperatively, a large retinal dialysis was found. This paper highlights the need for a high index of suspicion of retinal dialysis in a child with underlying AD and the importance of good control of this systemic condition to prevent ocular morbidity.
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  • 文章类型: Journal Article
    研究硅油取出后复发性孔源性视网膜脱离(RRD)的预后因素。
    这项回顾性研究纳入了2012年1月至2022年5月在一家以大批量转诊为基础的三级医院接受硅油填塞治疗的147例连续RRD患者。所有患者在随后的硅油去除后接受至少6个月的随访。主要结果指标是硅油取出后视网膜脱离的复发率,次要结局是硅油去除后的最佳矫正视力。
    平均硅油填充时间为4.75.01个月(范围:1-38个月;中位数:3个月),硅油取出后视网膜脱离的复发率为15.6%。Logistic回归分析显示,硅油去除过程中的氩内激光光凝(比值比[OR]:0.31;95%置信区间[CI]:0.106-0.898;p=0.031)与硅油去除后较低的解剖成功率相关。人口统计,术前眼部特征,增生性玻璃体视网膜病变,先前的巩膜环绕或屈曲,既往视网膜切除术,伴随超声乳化术,硅油填塞的持续时间,硅油取出后的气体填塞与硅油取出后的复发性视网膜再脱离没有显着相关。硅油填塞的持续时间(OR:1.23;95%CI:1.07-1.40;p=0.003)和硅油取出后复发性视网膜脱离(OR,3.40;95%CI,1.31-8.82;p=0.012)与硅油去除后视力不良相关。
    在本研究中检查的所有因素中,包括硅油填塞的持续时间,激光视网膜固定术是硅油取出后复发性视网膜脱离的唯一重要预后因素.硅油填充的持续时间较长与较差的视觉结果和去除硅油后的视觉改善率较低相关。
    UNASSIGNED: To Investigate the prognostic factors for recurrent rhegmatogenous retinal detachment (RRD) following silicone oil removal.
    UNASSIGNED: This retrospective review included 147 consecutive patients with RRD treated with silicone-oil tamponade at a high-volume referral-based tertiary hospital between January 2012 and May 2022. All patients underwent follow-up for a minimum of 6 months after subsequent silicone oil removal. The primary outcome measure was the rate of recurrent retinal detachment following silicone oil removal, and the secondary outcome was best-corrected visual acuity after silicone oil removal.
    UNASSIGNED: The mean silicone oil tamponade duration was 4.7  5.01 months (range: 1-38 months; median: 3 months), and the recurrent retinal detachment rate after silicone oil removal was 15.6%. Logistic regression analysis revealed that argon endolaser photocoagulation during silicone oil removal (odds ratio [OR]: 0.31;95% confidence interval [CI]: 0.106-0.898; p = 0.031) was associated with a lower rate of anatomical success after silicone oil removal. Demographics, preoperative ocular characteristics, proliferative vitreoretinopathy, previous scleral encircling or buckling, previous retinectomy, concomitant phacoemulsification, duration of silicone-oil tamponade, and gas tamponade after silicone oil removal were not significantly associated with recurrent retinal redetachment r after silicone oil removal. Duration of silicone-oil tamponade (OR: 1.23; 95% CI: 1.07-1.40; p = 0.003) and recurrent retinal detachment after silicone oil removal (OR, 3.40; 95% CI, 1.31-8.82; p = 0.012) were associated with poor visual outcomes after silicone oil removal.
    UNASSIGNED: Among all factors examined in this study, including the duration of silicone-oil tamponade, laser retinopexy was the only significant prognostic factor for recurrent retinal detachment after silicone oil removal. A longer duration of silicone oil tamponade was associated with worse visual outcomes and a lower rate of visual improvement after silicone oil removal.
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  • 文章类型: Journal Article
    p21激活的激酶(PAK)蛋白家族调节需要动态细胞骨架组织的各种过程,例如细胞粘附,迁移,扩散,和凋亡。在蛋白质家族的六个成员中,PAK2特异性参与细胞凋亡,血管生成,或内皮细胞的发育。我们报告了一种新的从头杂合错义PAK2变体,p.(Thr406Met),在有Knobloch综合征临床表现的新生儿中发现。体外实验表明,这个和另一个报道的变体,p.(Asp425Asn),导致蛋白激酶活性显著受损。先前在两个兄弟姐妹中发现的PAK2p。(Glu435Lys)变体中发现了类似的发现,提出了2型Knobloch综合征(KNO2)。这些新的变体支持PAK2激酶缺乏与第二,常染色体显性遗传形式的Knobloch综合征:KNO2。
    The p21-activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in a newborn with clinical manifestations of Knobloch syndrome. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Similar findings were described previously for the PAK2 p.(Glu435Lys) variant found in two siblings with proposed Knobloch syndrome type 2 (KNO2). These new variants support the association of PAK2 kinase deficiency with a second, autosomal dominant form of Knobloch syndrome: KNO2.
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  • 文章类型: Journal Article
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