Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen

BACKGROUND/AIMS: The type II collagenopathies are a phenotypically diverse group of genetic skeletal disorders caused by a mutation in the gene coding for type II collagen. Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy. METHODS: A retrospective notes search of patients with a molecularly characterised type II collagenopathy chondrodysplasia who had been examined in the ophthalmology clinic was conducted. RESULTS: 13 of 14 patients had a highly abnormal vitreous appearance. One patient aged 11 presented with a total retinal detachment. Two other children aged 2 and 4 had bilateral flat multiple retinal tears on presentation. 10 of 12 patients refracted were myopic. Two patients had asymptomatic lens opacities: one associated with bilateral inferiorly subluxed lenses and the other with a zonule and lens coloboma. CONCLUSION: Heritable skeletal disorders resulting from a mutation in the gene coding for type II collagen are associated with abnormal vitreous, myopia and peripheral cataract with lens subluxation. In bone dysplasias resulting from a defect of type II collagen there is likely to be a high risk of retinal detachment with a propensity to retinal tears at a young age.     

Surgical Management and Scheimpflug Analysis of an Atypical Lens Coloboma

A lens coloboma is not a true coloboma; it is just a zonular absence that causes a defect in the lens equator and hence a more spherical lens. It can be isolated or in association with iris, choroid or retinal colobomas. Typically the defect is present at the site of the embryonic fissure, but it can be present elsewhere. This congenital defect can cause amblyopia, especially when it is associated with cataract. We describe a case of a 39-year-old male with an atypical coloboma that was managed successfully with phacoemulsification, capsular tension ring and intraocular lens implantation. Scheimpflug image analysis and full ophthalmological assessment were performed. Scheimpflug images demonstrated a notching of the lens equator and an absence of zonulae. During the surgical procedure an ophthalmic viscosurgical device was used to tamponade the vitreous, and after continuous curvilinear capsulorhexis the capsular tension ring was inserted to allow the surgeon to perform a safe phacoemulsification.Key Words: Lens coloboma, Capsular tension ring, Scheimpflug image     

Retinal detachment associated with optic disc colobomas and morning glory syndrome

We report the diagnosis and treatment of patients with retinal detachment and/or retinoschisis associated with optic nerve coloboma or morning glory syndrome. A retrospective review of patients with optic nerve coloboma or morning glory syndrome with associated retinal detachment or retinoschisis was conducted. For five patients (six eyes), we report the clinical findings, spectral domain optical coherence tomography (OCT) imaging, intraoperative findings, and treatment outcomes. OCT scans demonstrate a bilaminar structure of maculopathy, consisting of inner schisis-like changes and outer layer retinal detachment. In most cases, a retinal break was demonstrated within the optic disc defect with three-dimensional OCT imaging. Glial tissue was sometimes observed within the anomalous defect. Vitrectomy and resection of the tractional tissue in these cases produced good anatomical and visual outcomes. Retinal detachment spontaneously resolved in cases where traction was not present. Traction may contribute to the pathogenesis of retinal detachment associated with colobomatous optic disc anomalies, either directly or by creating a secondary retinal break. OCT imaging assists with understanding the contributing factors to retinal detachment in individual cases of colobomatous optic disc anomalies and can thereby assist with determining the most effective approach to management.     

Lens coloboma and associated ocular malformations

Purpose:Lens coloboma is a rare congenital disorder of crystalline lens characterized by notching of the equator of the lens.Coloboma can occur in isolation or with other ocular malformations. The authors reported 5 cases of lens coloboma associated with some ocular malformations. Methods:Case reports.The clinical features,imaging findings and associated ocular malformations were reported. Results:One case was not associated with ocular anomalies. One patient was involved with iris and choroid coloboma;another subject suffered from total cataract;and the fourth patient was affected by lens dislocation.The remaining case included aniridia. The pathogenic mechanisms and relationship of the ocular malformations have been discussed. Conclusion:Lens coloboma can be associated with other ocular malformations, such as iris coloboma, choroid colobma, localized or total caratact.     

Combined surgery, phacoemulsification, implantation of intraocular lens and pars plana vitrectomy

PURPOSE: To evaluate the effectiveness, technical feasibility and incidence of complications after combining pars plana vitrectomy, phacoemulsification and intraocular lens implantation. MATERIAL AND METHODS: The results of combined vitreoretinal and cataract surgery in 100 eyes of 96 patients were retrospectively and prospectively analyzed. The mean follow-up period was 8.4 months. All patients had clinically significant lens opacities and vitreoretinal pathology requiring pars plana vitrectomy. Indications for vitreoretinal surgery included: persistent vitreous haemorrhage (28 eyes), vitreous hemorrhage combined with tractional retinal detachment (50 eyes), tractional retinal detachment without vitreous haemorrhage caused by proliferative diabetic retinopathy (7 eyes), rheumatogenous retinal detachment with proliferative vitreoretinopathy (10 eyes) and dislocated crystalline lens in the vitreous (5 eyes). RESULTS: Postoperatively, best corrected visual acuity improved in 81 eyes (81%)- by two lines or more in 31 eyes (31%) - by less than two lines in 50 eyes (50%). In 14 eyes (14%) visual acuity was unchanged and was worse in 5 cases (5%). Postoperative complications included fibrin reaction, posterior synechias of the iris, vitreous hemorrhage, neovascular glaucoma, posterior capsule opacification, redetachment of retina. CONCLUSIONS: Our cases confirm previous study, that performing phacoemulsification, IOL implantation and vitrectomy in one operation is safe and allows visual recovery with good technical results.     

先天性脉络膜缺损合并视网膜脱离的临床特点

目的探讨先天性脉络膜缺损合并视网膜脱离的临床特点,寻找较好的手术方法,以提高疗效。方法对８例（８只眼,其中７只眼视盘在缺损区内）脉络膜缺损合并视网膜脱离患者,施行玻璃体视网膜手术,术中在高倍显微镜下观察视网膜裂孔、玻璃体后界膜、缺损区的情况,行相应处理,硅油填充。结果术后视网膜均获得解剖复位,视力均有提高。结论此类视网膜脱离可因位于缺损区内的视网膜裂孔造成,其裂孔位于缺损区内带状视网膜脱离的边缘处,无玻璃体后脱离、缺损区巩膜外膨出等特点。充分的玻璃体切除合并封闭缺损区、硅油填充,可望成功     

Chorioretinal coloboma in a paediatric population

Aim

To determine the validity of laser photocoagulation as a prophylactic treatment in the prevention of rhegmatogenous retinal detachment (RRD) in a group of paediatric patients presenting with chorioretinal coloboma.

Methods

Observational case series of consecutive patients aged 0–15 years with chorioretinal coloboma seen in a tertiary eye hospital were reviewed. Data were analysed with SPSS version 16, a P-value of <0.05 was considered significant.

Results

One hundred and ninety-eight patients (335 eyes) were identified. The prevalence of retinal detachment and ocular anomalies was 17.6 and 87.2%, respectively. Ocular anomalies included iris coloboma (71%), microcornea (45.1%), nystagmus (41.5%), strabismus (21.2%), and microphthalmos (19.1%). The prevalence of retinal detachment was 2.9% in those eyes that received prophylactic laser photocoagulation, whereas the risk of retinal detachment was 24.1% in eyes left untreated. Post-operative complications following retinal detachment surgery occurred in 86.7% eyes; the most frequent being recurrent retinal detachment (53.8%). The mean duration of follow-up was 1.59±0.21 years (0–7 years) and 0.79±0.16 years (0–8 years) in the group that had laser and in those that were treatment naive, respectively.

Conclusions

Prophylactic laser treatment appears to have a protective effect for the prevention of RRD in eyes with chorioretinal coloboma. Measures towards prophylactic therapy should be instituted to reduce the risk of retinal detachment in choroid colobomatous eyes due to the problems in the management of these retinal detachments.     

Outcomes of the Perplexed Surgical Management of Retinal Detachment in Eyes with Coloboma

PurposeTo determine the anatomical and visual outcomes of retinal detachment in eyes with chorioretinal coloboma managed by pars plana vitrectomy, endolaser photocoagulation and silicone oil (SO) tamponade.MethodsRetrospective review of 29 eyes of 29 patients with retinal detachment associated with chorioretinal coloboma. All the cases were managed by vitrectomy procedures concluding with SO tamponade. Encircling band was placed based on pre-operative evaluation and/or surgeon’s discretion. Endolaser photocoagulation was applied around the peripheral retina, all around the peripheral breaks and around the colobomatous area. The outcome measures were evaluated with regard to functional and anatomical success.ResultsThe average age at the time of surgery was 21.76 ± 9.58 years (range, 10–50 years). The mean follow-up duration was 12.28 ± 4.8 months (range, 6–24 months). Primary attached retina was obtained in 21 / 29 (72.4%) eyes after single surgery. Re-detachment in 8 / 29 (27.6%) eyes which required revision surgery was the most frequent postoperative complication followed by raised intraocular pressure in 4 / 29 (13.8%) with SO in situ. Out of 29 eyes, 23 were followed up after the removal of SO. The mean duration of SO removal was 7.91 ± 3.9 months (range, 4–18 months). Implantation of encircling band, lens removal and cryotherapy provided no added advantage. At the final examination, improvement in vision was observed in 21 (72.4%) eyes and the anatomical attachment of the retina was attained in 27 (93.1%) eyes.ConclusionsComplete pars plana vitrectomy, endolaser photocoagulation along with SO tamponade is effective for retinal detachment associated with chorioretinal coloboma. This technique improves the anatomical outcome and helps in regaining significant visual acuity.     

Neovascularization of the iris: an experimental model in cats

Neovascularization of the iris was induced in cats by removing the vitreous and lens and creating a rhegmatogenous retinal detachment. The presence of new blood vessels on the anterior surface of the iris was verified from the second month onward by slit lamp examination, as well as by light microscopy six to twelve months after the operation. Control eyes undergoing vitrectomy and lensectomy, but without retinal detachment, did not develop rubeosis iridis. This model may allow investigation into causes and therapy of rubeosis iridis.     

Scleral fixation in eyes with loss of capsule or zonule support

We describe a new scleral fixation technique for posterior chamber intraocular lens (IOL) implantation in eyes with partial or total loss of the posterior capsule or zonule support. This technique uses a scleral incision that can be completed in less time than a conventional scleral flap and prevents unnecessary trauma to the eye. A double-thread, 10-0 polypropylene suture loop is introduced once through a scleral layer pathway inside the eye. The free ends of the polypropylene suture are buried between the 2 edges of the scleral incision. This technique was used in 15 eyes, with a follow-up of 6 to 30 months. Complications included iris capture, irregular pupil, hyphema, vitreous hemorrhage, choroidal hemorrhage, localized peripheral anterior synechias, and retinal detachment. The mean postoperative visual acuity was 20/40 at the last follow-up. This modified technique is an easy and effective way to achieve scleral fixation of the IOL.     

Beidseitiger Zonulafaserdefekt

Anterior segment colobomas can be found isolated or in combination with changes in the posterior segment. A coloboma of the ciliary zonule leads to alteration of the lens profile with myopia and astigmatism. Amblyopia and cataract development may also occur. We present two cases with a coloboma of the zonule with different degrees of expression and the most important differential diagnoses are discussed.     

玻璃体切除联合不同眼内填充物治疗增性糖尿病视网膜病变的效果分析

目的 评估增殖型糖尿病视网膜病变(proliferative diabetic retinopathy,PDR)行玻璃体切割术的治疗效果.对PDR不同分期以及联合不同填充物的视力和并发症情况进行观察和比较,探讨其预后的差别.方法 对因PDR行玻璃体手术的病例300例(384只眼)进行随访,根据玻璃体切割术后不同填充物分为硅油填充组、全氟丙烷填充组和平衡盐水组三组,比较各组间的视力预后及并发症发生情况.结果 (1)术后视力:在观察的384只眼中,随访时视力较术前提高者有271只眼(70.6%);其中保留BSS灌注液患者中有78只眼(84.8%),填充气体患者有58眼(70.7%),填充硅油患者135只眼(64.3%)视力提高.经x2检验,各组间视力提高比例的差别无统计学意义(均P>0.05).(2)术后并发症:玻璃体再出血发生率以填充BSS组最高(23.9%),与硅油填充组(10.5%)比较差异有统计学(P<0.05);并发性白内障以硅油填充组(26.4%)最高,与填充BSS组相比差异具有统计学意义(P<0.05);视网膜脱离发生率以硅油填充组最高,与填充BSS组相比差异具有统计学意义(P<0.05);不同填充物各组间虹膜红变发生率未显示统计学差异.结论 (1)玻璃体切割联合不同填充物能有效地控制病情,及时有效的玻璃体手术是挽救严重PDR患者有用视功能的关键.(2)玻璃体出血、视网膜脱离、并发性白内障和青光眼是PDR患者玻璃体切割术后主要的并发症.硅油填充组的玻璃体出血发生率少于其他组,但并发性白内障发生率较其他组高;(3)尽管玻璃体切割术联合硅油填充会引起一些并发症,但硅油有屏障、限制出血扩散和视网膜复位的作用,为进一步完成全视网膜激光光凝创造了条件,巩固了手术治疗的效果,明显提高视网膜复位率及手术治疗成功率     

Implantation of retropupillar iris claw lenses with and without combined penetrating keratoplasty

Background  For aphakic patients without lens-supporting apparatus, secondary lens implantation can be considered. Literature on retropupillar iris claw lens implantation as a safe alternative to scleral fixated posterior chamber lenses is scarce. Methods  The study included 22 patients. In ten cases, an iris claw lens was implanted retropupillary without penetrating keratoplasty (group 1), in 12 patients the implantation of a retropupillar iris claw lens was combined with penetrating keratoplasty (group 2). Complications observed were retrospectively evaluated. Previous operations and accompanying diseases were compiled. Reasons for aphakia in group1/group 2 included perioperative complications (60%/75%) and primary ocular trauma (40%/25%). Unless already performed in an earlier operation, anterior or complete vitrectomy was performed in both groups. Results  Perioperative complications (within 1 week postoperatively) in group 1 included ocular hypotony in 20%, choroidal detachment in 10%, vitreous haemorrhage in 10% and intraocular lens (IOL) decentration in 10% of the cases; in group 2, transient intraocular pressure elevation in 8% of the cases. Postoperative complications (after the first postoperative week) in group 1 were lens tilt in 10%, lens luxation in 10%, cellular deposits (assumed to be macrophages) on lens surface in 10%, cornea guttata in 10% and epiretinal gliosis in 10% of the cases; in group 2, secondary glaucoma in 33%, iris defect in 8% and corneal ulcer in 8% of the cases. Conclusions  Retropupillar iris claw lenses are an alternative to scleral fixated secondary lenses, which are worth considering for aphakic patients without lens supporting apparatus. This approach appears to be recommendable even in cases requiring penetrating keratoplasty, and can be performed as a combined procedure. In these patients, the most frequent complication following iris claw lens implantation seems to be secondary glaucoma. The authors have no financial interest in any of the products mentioned in the text.     

先天性脉络膜缺损并视网膜脱离术后光凝治疗观察

目的 探讨先天性脉络膜缺损及先天性脉络膜缺损合并视网膜脱离术后的光凝治疗疗效.方法 选择先天性脉络膜缺损合并视网膜脱离患者10例,在玻璃体切除术后沿脉络膜缺损边缘行光凝治疗,对侧眼在脉络膜缺损区边缘做防治性光凝治疗,光凝病例对侧眼中有3只眼在脉络膜缺损区域内发现裂孔,但尚未发生视网膜脱离.结果 实施光凝治疗20只眼,随访观察玻璃体切除术后的10只眼视网膜均在位,无视网膜脱离再次发生;对侧10眼缺损区边缘光凝斑反应良好,均未发现视网膜脱离的存在.结论 先天性脉络膜缺损以及先天性脉络膜缺损合并视网膜脱离术后光凝治疗是一种安全、有效、可行的方法.     

Surgical technique for congenital iris coloboma repair

We describe a surgical technique for managing congenital iris coloboma. After phacoemulsification with placement of an intraocular lens in the capsular bag, coloboma repair is begun by bisecting the iris sphincter on both sides of its attachment near the chamber angle. The iris leaflets central to the sphincterectomies are approximated using a 10-0 polypropylene suture (Prolene, Ethicon, Inc.) and a modified Siepser pupilloplasty technique. The remaining peripheral iris defect is closed in a similar fashion. In patients with congenital iris coloboma, phacoemulsification with in-the-bag IOL implantation followed by this pupilloplasty technique was effective in providing functional and cosmetic repair of a congenital iris coloboma.     

Bilateral retinal detachment with large breaks of pars plicata associated with coloboma lentis and ocular hypertension.

A 39-year-old man developed bilateral, insidiously progressing detachment of the retina and nonpigmented epithelium of the ciliary body because of a large break in the pars plicata. The anterior segments had multiple malformations including ectopia of the lens associated with coloboma of the lens and hypoplastic ciliary processes. The pars plicata breaks were present in areas corresponding to the anomalies of the lens-zonule-ciliary body complex and caused progressive, shallow rhegmatogenous retinal detachments with anterior chamber cells and elevation of intraocular pressure. Surgeries with scleral buckling procedure combined with vitrectomy and lensectomy brought about reattachment of the retina. This case indicates that subtle anomalies in the lens-zonule-ciliary body complex might be an indication of a break in the nonpigmented epithelium of the ciliary body which could lead to rhegmatogenous retinal detachment. The mode of inheritance of the clinical syndrome remained undefined because of negative family history.     

Gaze-evoked amaurosis from vitreopapillary traction

PURPOSE: We report four patients with gaze-evoked amaurosis attributable to incomplete posterior vitreous detachment and ensuing vitreopapillary traction. We present these cases to illustrate and extend the spectrum of vitreopapillary syndromes and to draw attention to vitreopapillary traction and its expected manifestations in both optic disk appearance and optic nerve and retinal function. DESIGN: This is a retrospective observational case series culled from tertiary neuro-ophthalmology practice. METHODS: Patients were evaluated with direct and indirect ophthalmoscopy, Hruby (precorneal) lens, three-mirror Goldmann contact lens, macular contact lens, formal perimetry, fundus photography, fluorescein angiography, and orbital ultrasound. RESULTS: Four patients with gaze-evoked amaurosis had disk edema associated with a partial posterior vitreous separation. These patients were young and had atypical posterior vitreous detachments characterized by persisting vitreopapillary attachments. CONCLUSIONS: Gaze-evoked amaurosis is a rare visual obscuration precipitated by changes in volitional gaze, usually associated with an underlying orbital mass. We extend its etiologies to implicate the vitreous through traction expressed at the optic disk. In our cases, vitreopapillary traction elevated the nerve head and eye movements precipitated transient visual phosphenes followed by gaze-evoked amaurosis caused by traction transmitted from the vitreous to superficial nerve fibers of the retina and disk.     

虹膜拉钩联合非接触全视野镜在小瞳孔玻璃体切割术中的应用

目的研究虹膜拉钩联合非接触全视野镜行小瞳孔玻璃体切割术的可行性及其优点。方法前瞻性队列研究。实验组为2010年2月至2010年6月间诊断为小瞳孔合并眼底病变需行玻璃体切割术患者12例（12眼）。虹膜拉钩撑开瞳孔后在非接触全视野镜下行玻璃体切割术,伴有晶状体混浊影响手术的一并行白内障超声乳化摘除术。对照组为同期在我院行玻璃体手术但不合并小瞳孔患者12例（12眼）,均在角膜接触透镜下行经扁平部玻璃体手术。两组术后随访6～12个月,分析两组的术后视力、角膜内皮、视网膜复位情况。采用Mann—Whitney秩和检验,独立样本￡检验,Fish确切概率法进行数据分析。结果实验组和对照组术后视力提高程度差异无统计学意义;实验组术后1眼,对照组2眼出现视网膜脱离复发,两组视网膜复位率差异无统计学意义;实验组和对照组的术后角膜内皮细胞丢失率分别为（15．7±6．9）％及（16．1±6．4）％,差异无统计学意义,术后无虹膜撕裂、虹膜萎缩等并发症。结论虹膜拉钩解决了白内障超声乳化过程及玻璃体切割过程中小瞳孔的问题,更好地暴露手术视野,而非接触全视野镜不仅解决了接触式透镜下玻璃体切割手术无法应用虹膜拉钩的问题,而且使手术视野更为清晰完全。虹膜拉钩联合非接触全视野镜是一种应对需行玻璃体切割手术的小瞳孔患者的简便安全的方法。     

增生性糖尿病视网膜病变合并白内障的联合手术治疗

目的探讨玻璃体手术联合晶状体超声乳化治疗增生性糖尿病性视网膜病变（PDR）合并白内障的临床疗效。方法分析19例（20只限）增生性糖尿病性视网膜病变合并不同程度白内障患者行白内障超声乳化联合玻璃体手术同时进行人工晶状体囊袋内植入的临床资料，观察术后视力改善程度及术中术后并发症。结果随访2—16个月，所有术眼人工晶状体位置良好，手术后20只限中有16只限（80％）视力有不同程度的提高，其中视力提高二行以上13只限（65％）；视力较术前无改善4只限（20％）。术后视力恢复不佳的原因主要与不同程度的糖尿病黄斑病变、视网膜广泛缺血有关。术后并发症包括高眼压、虹膜后粘连、玻璃体腔再出血、视网膜再脱离、晶状体后囊混浊及新生血管性青光眼等。结论玻璃体手术联合白内障超声乳化人工晶状体植入术治疗增生性糖尿病性视网膜病变合并白内障是安全和有效的，可使大多数患者视力改善，且无明显并发症。