Unique advantage of gonioscopy for viewing an anterior pyramidal cataract

Anterior polar cataracts (APC) are a relatively rare but well‐documented form of congenital cataract. Occasionally, these white disc‐shaped opacities protrude towards the anterior chamber with an inverse cone‐like morphology and are known as anterior pyramidal cataracts. These represent three to four per cent of all types of congenital cataracts. APCs portray a dominant mode of inheritance and generally do not progress over time. Due to their small size, APCs generally have little effect on vision and are simply monitored clinically. Photodocumentation of pyramidal cataracts has traditionally shown biomicroscopic views of the opacities. In addition to a review of APC, this report describes how a gonioscope offers a unique observational advantage in viewing an anterior pyramidal cataract.     

先天性白内障治疗现状及展望

先天性白内障是儿童可治性盲的首位病因。随着手术方式的不断改良、手术技术的不断提高,临床上先天性白内障的手术成功率得到了很大的提高。但成功的手术只是视功能恢复的第一步。建立专业化的小儿眼科治疗体系,严格把握手术适应证,选择恰当的手术时机,掌握先天性白内障针对性的手术技巧,进行系统规范的屈光矫正、弱视治疗及双眼视功能训练,对于先天性白内障的综合治疗具有重要意义。     

压贴镜在婴幼儿无晶体眼的应用

目的评价压贴镜联合弱视训练在婴幼儿先天性白内障术后无晶体眼的疗效。方法连续收集44例(87眼),年龄为4～30个月婴幼儿分为2组。治疗组23例(45眼)为先天性白内障,均在全麻下行白内障注吸及后囊膜连续环形撕囊术,术毕在全麻状态下,由视光师检影验光,术后一周配压贴球镜,联合红光闪烁弱视治疗,随访6～18月。对照组为正常婴幼儿21例(42眼),视觉发育正常。2组治疗或观察前后均采用优先注视法检查视力。结果1.术后随访时视力明显高于出院时视力(P<0.05),但低于正常对照组视力(P<0.05)。2.术中检影屈光度为 14DS～ 20DS,其中 16DS～ 17DS者26眼占57.718%。3.连续性后囊膜环形撕囊,可以保持视轴区透明,观察期内未见明显后发障。结论婴幼儿先天性白内障术中全麻状态下检影验光,用压贴球镜矫正屈光不正,验光准确,镜片轻便,婴幼儿易接受,值得推广。术后及时弱视训练,可促进视觉发育。     

Deprivation Amblyopia and Congenital Hereditary Cataract

Abstract

Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye. Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). In the developed world, amblyopia is the most common cause of childhood visual impairment, which reduces quality of life and also almost doubles the lifetime risk of legal blindness. Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.     

先天性与后天性实验白内障晶体中九种元素含量分析

首次对实验性先天性白内障晶体内多种元素含量的变化进行了研究，发现：患先天性白内障的仔一代和仔二代晶体内多种元素含量变化相似；５０日龄先天性白内障晶体内Ｋ含量高于正常对照组（Ｐ〈０．０１），Ｎａ低于正常对照组（Ｐ〈０．０５），先天性白内障晶体内Ｋ和Ｐ含量高于硒性白内障组和半乳糖性白内障组，Ｋ（Ｐ〈０．０１），Ｐ（Ｐ〈０．０５），而Ｎａ，Ｃａ含量均低于后两组（Ｐ〈０．０５），同时发现先天性白内障晶体内     

后极性白内障超声乳化吸除及折叠型人工晶状体植入术的临床观察

目的：探讨小切口超声乳化治疗后极性白内障的手术技术以及术中、术后并发症的处理方法。方法：46例患者(61只眼)，年龄38-78岁，平均57岁。在表麻下行颈侧透明角膜隧道切口的超声乳化，并对后囊下混浊斑块行剥离吸除、环形撕后囊或剪除混浊的后囊及折叠型人工晶状体植入术。结果：51只眼后囊膜完整，其中6只眼有后囊膜混浊；在10只后囊膜破裂眼中，4只眼有玻璃体脱出需行前段玻璃体切割术，并有1只眼晶状体皮质软壳沉入玻璃体腔引起葡萄膜炎及继发性青光眼需再次行后段玻璃体切割。58只眼人工晶状体囊袋内固定，3只眼睫状沟固定。结论：对后极性白内障行超声乳化手术时，谨慎处理后囊下混浊斑块，可以减少术中、术后的并发症，明显提高患者的术后视力。眼科学报2003；19：92-94     

The Management of Posterior Polar Cataract: The Role of Patching and Grading

The outcome of bilateral medial rectus posterior fixation sutures +/– central tenotomy was assessed as a secondary procedure for residual convergence excess esotropia in 11 patients. Ten had previously undergone bilateral medial rectus recessions. One had recess/resect surgery on the deviating eye. The average preoperative near angle was 30 prism diopters with a range of 16 to 45 prism diopters. Eight patients underwent bilateral medial rectus posterior fixation sutures with central tenotomy. Two had bilateral medial rectus posterior fixation sutures only, and one had bilateral medial rectus posterior fixation suture, a lateral rectus resection, and an inferior oblique disinsertion. The postoperative near angle ranged from 4-30 prism diopters, with mean of 12 prism diopters. Five patients demonstrated some stereopsis preoperatively, all needing bifocals. Postoperatively, nine patients demonstrated an improvement in stereopsis, none needing bifocals. Two showed smaller near angles and better control without bifocals. Final stereopsis ranged from 30 seconds of arc to 800 seconds of arc. We feel that bilateral medial rectus posterior fixation sutures with or without central tenotomy is a viable secondary procedure for residual convergence excess esotropia.     

PVEP in Patients with Different Types of Congenital Cataract

The preoperative and postoperative PVEP in 79 eyes of 45 patients with three types of congenital namely lamellar cataract, nuclear cataract and total cataract was studied. The results showed that visual acuity of patients who could be cooperatively examined was improved significantly after operation. The examination of PVEP revealed that more abnormal wave-formes were found in total cataract group before operation. P1 latencies of low and medium spatial frequencies (140‘, 70‘, and 35‘) became much longe...     

Silent Post Cataract Bilateral Sequential Nonarteritic Anterior Ischaemic Optic Neuropathy

Nonarteritic anterior ischaemic optic neuropathy (NAION) has been reported as a rare occurrence following cataract surgery. Bilateral sequential NAION following cataract surgery is extremely rare. We report an 83-year-old male who developed bilateral sequential NAION within 5 and 3 weeks of undergoing uneventful cataract surgeries in each eye. A brief review of the literature on this topic is provided. This case serves to add to the ongoing debate about the association between cataract surgery and NAION.     

注重先天性白内障患者的弱视治疗

先天性白内障是导致儿童低视力的重要因素之一。目前眼科医师对尽早争取手术．以保存视力,促进融合功能发育这点已达到共识。但对于促进视功能重建的关键问题——弱视治疗,尚未能引起同道们的充分关注。(眼科,2006．15：302-303)     

一个先天性白内障家系基因突变热点分析报告

目的：对一个来自广东兴宁的四代先天性白内障家系进行常染色体显性基因突变热点的分析，了解这个家系在热点上是否有相应的改变。方法：该家系19名成员(包括患者8人，非患者11人)知情同意进入本研究。8例患者在中山眼科中心接受全面的眼部及全身检查．以排除存在白内障以外眼部及全身疾患。11例非患病亲属仅接受眼部检查。对这19例研究对象各抽取外周血5ml，提取基因组DNA。针对国外文献报道(截至2003年1月为止)的与常染色体显性遗传先天性白内障相关的10个基因(CRYAA、CRYAB、CRYBA1／A3、CRYGD、GJA8、CRYGC、CRYBB2、GJA3、MIP及BFSP2)的17个突变热点，设计引物使聚合酶链反应扩增的片段覆盖这17个位点，对扩增产物进行测序和序列分析，了解这19名研究对象在17个突变热点上是否有相应的序列改变。结果：19例研究对象，在国外文献报道的17个与常染色体显性遗传先天性白内障相关的突变热点，均未发现相应的序列改变。结论：初步排除这个常染色体显性遗传先天性白内障家系与国外文献报道的17个突变热点相关。     

先天性白内障合并永存胚胎血管的手术治疗和预后

目的：观察先天性白内障合并永存胚胎血管（PFV）患儿的临床特征及手术治疗效果。方法：回顾性系列病例研究。分析2011 年5 月至2017 年6 月在温州医科大学附属眼视光医院杭州院区接受手术治疗的先天性白内障合并PFV患儿24例（28眼）的临床资料,记录手术年龄、手术方式、手术前后眼部检查情况以及手术前后视力。结果：术前合并先天性瞳孔虹膜异常14 眼,晶状体脐状凹陷或悬韧带异常6 眼,后囊膜缺损9 眼,先天性小角膜及角膜缘干细胞异常2 眼,眼底病变2 眼,眼球震颤5 眼,斜视7 眼,全身合并腭裂1 例。大于3 岁患儿7 例（10 眼）,行“晶状体切除+前段玻璃体切割+人工晶状体（IOL）植入术”,随访8.0（2.5～41.0）个月,末次随访视力均在0.1 以上,2 例（2 眼）在0.3 以上;小于1岁患儿17例（18眼）,行“晶状体切除+前段玻璃体切割术”,选择性注视卡Snellen视力均达0.1以上,注视追视及眼球震颤均明显改善;6例（6眼）患儿一期先行“晶状体切除+前段玻璃体切割术”,年龄（5.5±2.6）个月,二期再行IOL植入术,年龄（23.5±8.1）个月,1例（1眼）达到0.6,接近正常同龄儿童,5 例（5 眼）达到标准对数视力表视力0.1 以上。手术后随访4 个月至6 年（中位数12.0 个月）, 无严重并发症。结论：先天性白内障合并PFV大部分为单眼发病。微创晶状体切除联合玻璃体切割术后并发症的发生率非常低,术后视力明显提高,少部分可以达到正常视力。     

Cataract Surgery Complications in Uveitis Patients: A Review Article

ABSTRACT

Uveitis is a leading causes of blindness worldwide, and the development of cataracts is common due to both the presence of intraocular inflammation and the most commonly employed treatment with corticosteroids. The management of these cataracts can be very challenging and often requires additional procedures that can compromise surgical results. The underlying disease affects a relatively young population at higher risk of complications. Preoperative control of inflammation/quiescent disease for at least three months is generally accepted as the minimum amount of time prior to surgical intervention. Phacoemulsification with intraocular lens is the preferred method for surgery, with some studies showing improvement in visual acuity in over 90% of patients. The most common postoperative complications include macular edema, posterior capsule opacification, recurrent or persistent inflammation, glaucoma, epiretinal membrane and IOL deposits, or dislocation. Despite the potential complications, cataract surgery in uveitis patients is considered a safe and successful procedure.     

Deficiency of Jamc Leads to Congenital Nuclear Cataract and Activates the Unfolded Protein Response in Mouse Lenses

PurposeThe malfunction of junctional adhesion molecule C (JAM-C) has been reported to induce congenital cataract in humans and mice; however, specific characters and the mechanism of this cataract are still unclear. This study aimed to characterize abnormal lens development in Jamc knockout mice and clarify the underlying mechanism.Methods Jamc knockout mice backcrossed onto the C57BL/6 genetic background were used for this research. Slit-lamp and darkfield images showed the cataract phenotype of Jamc^−/− mice. Hematoxylin and eosin staining was performed to visualize the morphological and histological features. RNA sequencing was applied to detect differentially expressed genes. Quantitative RT-PCR, western blot, and immunofluorescence were used to determine the level of unfolded protein response (UPR)-related genes. TUNEL staining was utilized to label cell death.Results Jamc knockout mice exhibited nuclear cataract with abnormal lens morphology and defective degradation of nuclei and organelles in lens fiber cells. Compared with wild-type control mice, the expression level of BiP, CHOP, TRIB3, and CHAC1, genes involved in endoplasmic reticulum stress and the UPR, were highly upregulated in Jamc^−/− lenses, suggesting that abnormal lens development was accompanied by UPR activation. Moreover, increased cell death was also found in Jamc^−/− lenses.ConclusionsCongenital nuclear cataract caused by Jamc deficiency is accompanied by defective degradation of nuclei and organelles in lens fiber cells, lens structure disorder, and UPR activation, suggesting that JAM-C is required for maintaining normal lens development and that UPR activation is involved in cataract formation in Jamc-deficient lenses.     

Cataract Extraction in Cases of Cataract with Vitreous Abnormality

Since good visibility of the deeper structures of the eye is a prerequisite for vitreous surgery, a lentectomy is often performed in combination with vitreous surgery even when the lens is only slightly cataractous. Clear lenses may have to be removed when complete intraocular gas tamponade is utilized (treatment of giant tears 180 degrees and larger). A pars plana approach is recommended, and the lens is removed with the vitrectomy instruments as long as the nucleus is not too hard. Otherwise, phacoemulsifying instruments are needed. The techniques are described. The worst complication of posterior lentectomy is loss of lens material into the vitreous cavity.     

白内障超声乳化吸除与囊外摘除人工晶体植入术后前房角对比观察

目的：对比观察巩膜隧道切口白内障超声乳化吸除折叠式人工晶体植入术和常规白内障囊外摘除人工晶体植入术后前房角对比情况。方法：采用Ｇｏｌｄｍａｎｎ房角镜分别观察３６眼巩膜隧道切口白内障超声乳化吸除折叠式人工晶体植入术和常规白内障囊外摘除人工晶体植入术后切口的变化、周边虹膜改变、晶体袢固定等情况。结果：白内障超声乳化吸除折叠式人工晶体植入术组及常规白内障囊外摘除人工晶体植入术组术后切口后弹力层脱离分别为     

Posterior Polar Cataract: Genetic Analysis of a Large Family

Congenital cataracts are clinically and genetically heterogeneous. Loci for autosomal dominant posterior polar cataracts have been mapped to chromosomes 1p36, 11q22-q22.3, 16q22, and 20p12-q12. We investigated a large four-generation family with 20 individuals affected with congenital posterior polar cataracts. After exclusion of known loci for posterior polar cataracts, a genome-wide screen was conducted. In this family, we mapped dominant congenital posterior polar cataracts to chromosome 10q24. On haplotype analysis, we identified an 11-cM interval between loci D10S1680 and D10S467, which included the PITX3 gene. On sequencing the coding region of PITX3, we found a 17-base-pair duplication in exon 4. Although the same genotype was described in a family with ASMD and cataracts, the common phenotype of this mutation is probably posterior polar cataract; a modifier gene is presumed to cause anterior segment abnormalities in the previously described patients. The same mutation was recently identified in four families with congenital cataracts. This study provides further evidence of genetic heterogeneity of autosomal dominant posterior polar cataract.     

Complications of Pediatric Cataract Surgery

Abstract

Purpose: Cataract surgery in young children poses different challenges and potential complications compared to those encountered in adult populations. We performed a literature review of the complications of pediatric cataract surgery. Methods: Literature review of complications of pediatric cataract surgery. Results: Complications in children vary based on the age of the patient at surgery and the cause of the cataract. Common events discussed include increased inflammatory response, opacification of the posterior capsule, lens reproliferation, pupillary membrane, and amblyopia; less common events include infections, significant bleeding, and retinal detachment. Conclusion: Complications after cataract surgery in children are often associated with a robust inflammatory reaction or secondary opacity and, in infants, glaucoma. Late complications can occur decades later, so that long-term follow-up is required. Though surgery carries significant risks, the consequences of no surgery and irreversible deprivation amblyopia in very young children should be considered.     

小鼠肌节同源盒基因同系物2条件性敲除在先天性白内障发生中的作用

目的：研究晶状体中肌节同源盒基因同系物2（Msx2）条件性基因敲除与先天性白内障发生的关系。方法：实验研究。选取条件性基因敲除小鼠Msx2CKO（Msx2fl/fl/Le-Cre+）为实验组,野生型小鼠Msx2WT（Msx2fl/fl）为对照组。取胚胎17.5 d（E17.5）Msx2WT小鼠胚胎头部组织作冰冻切片,采用RNA原位分子杂交方法检测Msx2在眼组织内的正常表达。取2 组小鼠E17.5 和生后8 d（P8）眼球组织石蜡切片HE染色观察晶状体组织形态学变化。比较2 月龄Msx2CKO和Msx2WT小鼠晶状体质量和直径,组间比较采用独立样本t检验。结果：本研究观察到超过50%的2 月龄Msx2CKO小鼠眼部出现角膜轻微混浊,晶状体变小(质量和直径),晶状体混浊及小眼球畸形。石蜡切片HE染色观察到Msx2CKO E17.5及P8小鼠晶状体内分化的纤维细胞排列紊乱,赤道部晶状体上皮细胞及邻近的纤维细胞中有空泡,排列明显紊乱。2月龄Msx2CKO组小鼠的直径小于Msx2WT组小鼠（t=4.80,P < 0.05）,重量小于后者（t=14.29,P < 0.05）。结论：Msx2基因对小鼠晶状体发育起重要的调控作用,晶状体条件性敲除该基因可引起先天性白内障发生。