Crystalline Cataract – A New Type?

ABSTRACT A hitherto undocumented type of congenital cataract is described. It consists of discrete annularly arranged, punctate, birefringent bodies situated at the lower equational region of the foetal nucleus. The cataract could only be observed when placing the extracted lens between crossed polaroid filters.     

Phacoemulsification with Viscodissection in Posterior Polar Cataract: Minimizing Risk of Posterior Capsule Tear

We retrospectively evaluated the efficacy of viscodissection in decreasing the risk of posterior capsule tear during phacoemulsification surgery in 23 eyes with posterior polar cataract. Eyes were randomly assigned to two groups prior to emulsification: cortical viscodissection (Group 1) or non-viscodissection (Group 2). The visual acuities similarly improved in all eyes in the two groups. Posterior capsule tear occurred in one eye in Group 1 and five eyes in Group 2 (p < 0.05). On the basis of these results, the viscodissection technique was safer and more efficient than the non-dissection technique. Drs. Taskapili, Gulkilik, Kocabora, and Ozsutcu are from the Vakif Gureba Education Hospital, Istanbul, Turkey. The authors have stated that they do not have a significant financial interest or other relationship with any product manufacturer or provider of services discussed in this article. The authors also do not discuss the use of off-label products, which includes unlabeled, unapproved, or investigative products or devices. The authors demonstrated that the viscodissection technique was safer and more efficient than the non-dissection technique during phacoemulsification surgery for posterior polar cataract.     

Congenital Anterior Polar Cataract: A Review of 63 Cases

Sixty-three patients with congenital anterior polar cataracts seen over a period of 15 years at The Children's Hospital, Boston, were reviewed to determine their clinical course and visual outcome. Over one-third of the patients were found to have strabismus, refractive anisometropia, or some form of amblyopia. Seven other patients had additional ocular pathology which affected their visual prognosis. One patient manifested progressive lens opacification that eventually warranted cataract surgery. These findings suggest a less benign prognosis for congenital anterior polar cataracts than has generally been described. In our series early ophthalmological examination did not always allow us to forecast later visual disability. We therefore recommend regular follow-up of all children with anterior polar cataracts until a secure assessment of vision can be made.     

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.     

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     

常染色体显性遗传先天性核性白内障一家系致病基因的初步定位

目的 初步定位一个显性遗传性先天性核性白内障家系的致病基因.方法 在已知与先天性白内障相关的致病基因附近选择合适的微卫星标记,基因组PCR扩增后进行基因分型,由LINKAGE软件处理,对该家系进行连锁分析.结果 在22q的D22S258、D22S315、D22S1163显示最大LOD值2.11（重组率θ=0）.单倍型分析提示致病基因位于D22S1174～D22S270大约18.5 Mbp的遗传距离.结论 该家系的致病基因定位于22q11.2～22q13,该范围内的CRYBB1、CRYBB2、CRYBB3、CRYBA4为其可能致病基因.     

Bilateral Posterior Scleritis: Analysis of 18 Cases from a Large Cohort of Posterior Scleritis

Purpose: To describe the clinical and epidemiological characteristics of patients and analyze factors associated with bilateral posterior scleritis.

Methods: In this retrospective cohort study, records of patients with diagnosis of bilateral posterior scleritis at two tertiary-care centers in the UK and India were analyzed in comparison with the clinical profile of patients with unilateral scleritis.

Results: In total, 18 patients with bilateral posterior scleritis were identified and compared with 96 patients of unilateral posterior scleritis; 14 (77%) were women and the median age was 48 years. Headache (p?=?0.04), optic nerve swelling (p?=?0.01), and elevated antinuclear antibodies (ANA) titers (p?=?0.03) were present more frequently in patients with bilateral than in unilateral posterior scleritis. Seven patients (38.88%) required immunosuppressive therapy to attain resolution of the inflammation and to prevent relapse.

Conclusions: Bilateral posterior scleritis is an uncommon but severe inflammation of the posterior sclera. The majority of them are idiopathic, often requiring aggressive treatment to prevent visual loss.     

先天性静止性夜盲家系的全视野暗视ERG分析

对一个AD遗传型CSNB家系的11名患者22眼检测、分析了全视野暗视ERG。结果所有患眼的暗视ERG均有异常，并发现三种明显不同的类型，即以a波正常b波降低甚至出现负电反应为特征的Schubert-Bornschein型，以a波、b波振幅均下降为特征的Riggs型和以暗视白光和蓝光刺激下均无波为特征的无波型，认为不同类型的ERG反应并不表示不同的遗传 本质，只代表CSNB基因的不同表现度。指出全视野暗视ERG检查对于CSNB的临床诊断、分型及与其它视网膜病的鉴别诊断均有重要价值。     

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     

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。     

Clinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa

Background: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by night blindness, progressive peripheral visual field loss, and loss of central vision. Fifty-three RP pathogenic genes are responsible for RP. Pre-mRNA processing factor 31(PRPF31) gene is the third most common cause of autosomal dominant retinitis pigmentosa (adRP), and so far more than 40 mutations in PRPF31 have been detected.

Purpose: To identify the underlying genetic defect in a five-generation Chinese family affected with adRP and to study the genotype-phenotype relationship of this family.

Methods: Detailed clinical investigations were undertaken and peripheral blood samples were collected from 25 individuals. Microsatellite (STR) markers tightly linked to genes known to be responsible for adRP were selected for linkage analysis. Exons and adjacent splice junctions of the candidate gene were amplified and sequenced.

Results: This adRP family exhibited an incomplete penetrance of the RP phenotype. In affected individuals, age of disease onset was from infancy to 4 years of age. Typical RP features were associated with this mutation. Linkage analysis identified a maximum two-point LOD score of 3.20 with D19S418, which is close to PRPF31. A mutation PRPF31: (c.358-359 del AA) was identified by linkage analysis.

Conclusions: A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population.     

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.     

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。     

白内障手术晶状体后囊破裂的临床分析

目的 通过回顾性分析在白内障手术中发生晶状体后囊破裂的病例,探讨晶状体后囊破裂的处理方法,人工晶状体的植入与否同患者预后的关系.方法 收集2001年1月至2004年12月在新加坡国立眼科中心(SNEC)行白内障手术发生晶状体后囊破裂的病例.结果 白内障术后一月,最终随访视力与术前视力相比有统计学意义(P＜0.01),植入前房型人工晶状体术后一月及最终随访的视力与植入后房型人工晶状体病例相比有统计学意义(P＜0.01),有并发症与无并发症的病例术后一月及最终随访的视力相比有统计学意义(P＜0.01).结论 掌握晶状体后囊破裂的高危因素,可以尽可能的避免晶状体后囊破裂的发生,及时发现并选择恰当的处理方法,可以最大限度的避免术后并发症的发生,提高患者的术后视力.     

一常染色体显性遗传性白内障家系致病基因的排除性定位

目的对常染色体显性遗传先天性白内障家系进行致病基因的定位研究。方法对4代11例家系成员（6例患者）进行眼部和全身检查,采集静脉血,提取基因组DNA,选取已报道的与遗传性白内障相关位点附近的微卫星标记,PCR扩增后进行基因型分析,用连锁分析进行排除;没有排除的位点,基因外显子测序。结果 35例家系成员中,追溯调查共有10例患者,其中第1代1例,第2代2例,第3代5例,第4代2例。该家系患者表型为完全性白内障;绝大多数位点,患者没有共享基因型;微卫星标记与致病基因间的2点连锁Lod值〈-2,证实这些位点与该家系的致病基因不连锁;有3个多态性标记（D10S1239、D22S286、D22S926）0〈Lod值≤0.6,Lod值虽然不是〈-2,但在家系患者中没有共享等位基因;测序未发现外显子有突变。结论此家系的致病基因不是已报道位点的致病基因,其致病基因有待进一步研究。     

东北地区一遗传性白内障家系的临床遗传学及基因定位研究

目的:分析一先天性核型白内障家系的遗传方式及致病基因所在位置。方法:收集一个3代遗传性白内障家系成员的临床资料;提取家系成员外周血DNA,选取62个态性微卫星标记进行连锁分析。应用LINKAGE软件(version 5.2)中的MLINK程序计算两点连锁LOD值,并人工构建家系成员的单体型。结果:确定该家系为一常染色体显性遗传性白内障大家系,在微卫星标记D22S689可获得最大LOD值2.71(θ=0时),单体型提示该家系表型可能与染色体22q11.2-12.1区域连锁。该区域含有CRYBB1,CRYBB2,CRYBB3,CRYBA44个候选基因。结论:本研究先天性核型白内障家系符合常染色体显性遗传规律,其致病基因定位于22q11.2-12.1区域。     

A review of current approaches to identifying human genes involved in myopia

The prevalence of myopia is high in many parts of the world, particularly among the Orientals such as Chinese and Japanese. Like other complex diseases such as diabetes and hypertension, myopia is likely to be caused by both genetic and environmental factors, and possibly their interactions. Owing to multiple genes with small effects, genetic heterogeneity and phenotypic complexity, the study of the genetics of myopia poses a complex challenge. This paper reviews the current approaches to the genetic analysis of complex diseases and how these can be applied to the identification of genes that predispose humans to myopia. These approaches include parametric linkage analysis, non‐parametric linkage analysis like allele‐sharing methods and genetic association studies. Basic concepts, advantages and disadvantages of these approaches are discussed and explained using examples from the literature on myopia. Microsatellites and single nucleotide polymorphisms are common genetic markers in the human genome and are indispensable tools for gene mapping. High throughput genotyping of millions of such markers has become feasible and efficient with recent technological advances. In turn, this makes the identification of myopia susceptibility genes a reality.     

晶状体蛋白基因在一先天性白内障家系中的突变筛查

目的研究晶状体蛋白基因与先天性白内障的关系。方法收集1个先天性白内障家系,制备外周血白细胞基因组DNA。除对CRYGD基因直接测序外,在距离已知晶状体蛋白基因5个厘摩范围内选取微卫星标记进行连锁分析,计算微卫星位点与致病基因之间的最大优势对数值(LOD SCORE),来确定晶状体蛋白基因与此家系致病基因的关系。结果当重组分数分别为0.1、0.2、0.3、0.4时,所选取的位于晶状体蛋白基因附近的14个微卫星位点与该家系致病基因之间连锁的LOD值均为负值,故排除连锁。CRYGD基因测序后在基因编码区及启动子、内含子与外显子连接处的剪切位点均未见任何碱基改变。结论晶状体蛋白基因非此家系的致病基因,为进一步定位与克隆该家系的致病基因,需进行全基因组扫描,以探求先天性白内障的分子发病机制。     

一Stickler综合征家系的临床特征及分子遗传学分析

目的：:研究一Stickler综合征家系的临床表型及分子遗传学特点,并确定致病基因及其突变。方法：:实验研究。对一Stickler综合征家系4代11例患者进行临床特征及系谱分析。采集该家系先证者及其他成员（患者及正常人）的外周静脉血标本,并利用高通量二代测序技术对先证者及正常对照样本行全外显子组测序（WES）分析。针对...     

高度近视眼白内障手术中的后囊处理

目的：探讨高度近视眼白内障手术中后囊的处理。方法：高度近视眼白内障患者22例30只眼,平均眼轴长度31.62mm,行3.0mm常规白内障超声乳化,术中行后囊连续环形撕囊术12只眼,行后囊切开联合前部玻璃体切割术18只眼,未植入人工晶体。结果：所有病例在术后裸眼视力提高,后囊连续环形撕囊组视力≥0．1者100％,其中视力≥0．3者占58．3％;后囊切开联合前部玻璃体切割组视力≥0．1者为88．9％,其中视力≥0．3者占50％。术中及术后并发症;后囊连续环形撕囊组中未出现并发症;后囊切开联合前部玻璃体切割组一例出现脉络膜脱离,二例3只眼发现视网膜破孔。结论：后囊连续环形撕囊术是减少高度近视患者白内障术后并发症的安全,经济,有效的方法,在未植入人工晶体眼也适用。