Congenital lens coloboma and associated pathologies

Coloboma of the lens is characterized by notching of the equator of the lens. The cause of the condition is faulty development of the zonule. The lens deprived of its normal pull in the defective region is thicker and more spherical as if there were no loss of its substance. We report five cases of lens coloboma and localized zonular defect without any associated systemic anomalies. One case included retinal detachment; another included an iris coloboma; and a third included iris, choroid and optic disk colobomas and retinal detachment with lens coloboma. The remaining two cases were without associated ocular anomalies. The pathogenic mechanisms and relationship of this defect with the differentiation of the tertiary vitreous and development of the zonule is discussed. The defect most likely occurs in the third to fourth months of gestation during differentiation of the tertiary vitreous in response to toxic, inflammatory or genetic factors.     

虹膜缺损眼人工晶状体植入术

目的　探讨治疗先天性和外伤性虹膜缺损或同时伴有白内障的有效方法。方法　对眼外伤致虹膜缺损和先天性虹膜缺损患者 2 1例 2 3眼 ,采用白内障摘出术联合虹膜型人工晶状体囊袋内植入术或人工虹膜合并人工晶状体囊袋内植入术。结果　术后随访 3～ 18个月 ,平均 9.6个月 ,术后视力较术前视力提高 ,术后最佳矫正视力 >0 .5者 12眼( 5 2 .17% ) ,0 .1～ 0 .5者 9眼 ( 39.13% )。 2 2眼畏光消失 ,1眼畏光减轻。未发生严重并发症。结论　虹膜型人工晶状体囊袋内植入术或人工虹膜合并人工晶状体囊袋内植入术治疗虹膜全部缺失或虹膜部分缺损白内障或无晶状体眼安全、有效的方法     

Morcher 50C型人工虹膜治疗白内障合并虹膜缺损

目的探讨Morcher 50C型人工虹膜植入联合白内障超声乳化吸出人工晶状体植入治疗白内障合并无虹膜及严重的虹膜缺损的方法和效果。方法 14例（16眼）白内障摘出囊袋内植入Morcher 50C型人工虹膜后再植入折叠式人工晶状体,术后观察3～6个月。结果 16眼术后瞳孔直径5.5mm,视功能恢复良好。结论 Morcher50C型人工虹膜可以作为治疗外伤及其他原因引起的无虹膜及严重虹膜缺损合并白内障的有效方法,可以避免术后复视、眩光等症状,恢复最佳视功能。     

Pattern of blood vessels in eyes with coloboma

Background:

Choroidal coloboma, especially with optic disc involvement affects the blood vessel (BV) pattern in the fundus.

Aim:

The aim of this study was to report the observations on the pattern of retinal BVs in eyes with fundus coloboma.

Design:

Retrospective observational study.

Materials and Methods:

Twenty four eyes of 19 patients with fundus coloboma and the disc involvement in the coloboma was classified according to a previous publication.

Results:

Four varieties of BVs were identified in the area of coloboma - BVs that were continuous with those arising from the optic disc; vessels emanating from the floor of coloboma whose continuity with central retinal artery or its branches could be indirectly established; and those emanating from the floor of coloboma whose continuity with central retinal artery could not be established. In addition, extraocular BVs were visible through the thinned sclera. The retinal BVs often traversed the coloboma to reach the normal retina. The disc itself was found to be small and had no physiological cup (if not colobomatous).

Conclusions:

One should be aware of the major BVs transgressing the coloboma while performing relaxing cuts in the intercalary membrane, during the surgery for retinal detachments in eyes with coloboma. Physiological cup is usually absent (when the disc is not colobomatous). Hence, any cupping in such eyes should be viewed with suspicion.     

Lens Coloboma Associated with a Ciliary Body Cyst

Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence. The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congenital lens coloboma.     

Nasopalpebral lipoma coloboma syndrome

Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.     

Iris coloboma managed with a prosthetic contact lens: a case report and review

Coloboma of the iris is a relatively uncommon congenital condition seen in optometric practice. Symptoms include photophobia, greater chromatic and spherical aberration, reduced depth of focus, and poor cosmesis. A case is reported of a prosthetic (cosmetic) contact lens used in the alleviation of these symptoms.     

Mosaic cat eye syndrome in a child with unilateral iris coloboma

ABSTRACT

Background

Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000–150,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients. In addition, other ocular malformations and systemic defects can be present. The aim of this report is to present a patient with unilateral iris coloboma related to a mosaicism of cat eye syndrome.     

Ocular coloboma

Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Patients with multiple malformations and coloboma may have a recognized malformation syndrome of unknown etiology, a single gene disorder, or chromosomal abnormality. Prognosis and recurrence risk can be determined only after complete evaluation of the patient and other family members.     

先天性眼组织缺损一家系基因排除定位研究

目的对1个3代常染色体显性遗传性先天性眼组织缺损家系进行致病基因的定位。方法对家系所有成员进行详细的临床检查,排除其他系统疾患。提取家系成员外周血DNA,选取20个位于4、7、10、11号染色体上已知与先天性眼组织缺损相关的4个致病基因及已知基因位点20q13.1附近的微卫星标记物进行多重PCR扩增,经ABI3130型遗传分析仪,Genscan2.1收集数据,Genotyper2.1进行基因分型,Linkage软件计算两点LOD值。研究过程遵循赫尔辛基宣言。结果未发现所选微卫星位点与该家系疾病表型共分离,LOD值均为负值。致病基因与已知的先天性眼组织缺损候选基因不存在连锁关系。结论该家系的遗传与目前已知的致病基因无关,是否存在新的致病基因有待进一步研究。     

Microphthalmia,late onset keratitis,and iris coloboma/aniridia in a family with a novel PAX6 mutation

Autosomal dominant microphthalmia with late-onset keratitis and iris coloboma/aniridia has not been reported before. Here we report a Chinese family with these phenotypes and a novel PAX6 mutation. Microphthalmia, late-onset keratitis, iris coloboma, and nystagmus were present in the proband. His son had microphthalmia, aniridia, foveal hypoplasia, and nystagmus. A novel c.649C>T (p.Arg217X) mutation in PAX6 was detected in the proband and his affected son. This study expands the phenotypic spectrum of PAX6 mutation and enriched our knowledge of the genetic cause for microphthalmia and late-onset keratitis.     

Lens coloboma associated with a ciliary body cyst

Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence. The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congenital lens coloboma.     

Cataract surgery in eyes with associated coloboma: Predictors of outcome and safety of different surgical techniques

Purpose:The aim of this study was to report the outcome of cataract surgery with different surgical techniques in eyes with coexisting coloboma and to define factors of prognostic importance.Methods:Retrospective case sheet review of patients presenting between January 2016 and December 2018, who underwent cataract surgery in eyes with coexisting coloboma.Results:Of the 3,30,231 cases operated during the study period, 280 eyes of 276 patients had associated colobomatous malformation. The prevalence of coloboma in eyes undergoing cataract surgery was 0.085%. The mean age of the patients was 46.4 years (range 19 - 88 years). Phacoemulsification (PE) was performed in 130 eyes (46.4%), manual small incision cataract surgery (M-SICS) was done in 115 eyes (41.1%), and 35 eyes (12.5%) underwent intra capsular cataract extraction. Intra-operative complications were noted in 26 (9%) eyes. Incidence of intra-operative and post-operative complications was comparable between PE and M-SICS groups (p = 0.94). The mean corrected distance visual acuity (CDVA) improved from logMAR 1.71 ± 0.62 to 0.87 ± 0.61 (p = 0.00009). On multivariate analysis, microcornea (p = 0.002), type 1 and 2 coloboma (p < 0.001), and intraoperative complications (p = 0.001) were associated with poor visual outcome.Conclusion:Favorable functional outcomes can be achieved with phacoemulsification in eyes with softer cataract and corneal diameter >8 mm and with M-SICS in eyes with hard cataracts and corneal diameter of 6–8 mm. PE should be considered as the primary choice whenever permissible by the corneal diameter and severity of nuclear sclerosis. Poor functional outcomes were seen in eyes with smaller corneal diameter, extensive chorioretinal coloboma, and intraoperative complications.     

A case of chorioretinal coloboma in a patient with achondroplasia

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 μm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.     

先天性眼睑缺损修复术

目的：探讨利用皮肤旋转滑行皮瓣及异体巩膜分层修复先天性巨大眼睑缺损的效果。方法：设计分层修复巨大眼睑缺损的方法，采用局部转移结膜瓣修复睑结膜面，利用异体巩膜代替睑板，皮肤层面采用缺损区延长切口及鼻侧旋转滑行皮瓣修复，达到一期修复全层眼睑缺损的目的。结果：6例先天眼睑缺损再造术，术后随访6月以上，外观满意，睑裂闭合良好，眼睑瞬目功能正常，角膜透明。结论：皮肤及结膜旋转滑行瓣及异体巩膜代替睑板是一期修复先天性巨大眼睑缺损的简便有效方法。     

双眼眼部缺损合并非综合征性唇腭裂(英文)

患儿,男,2mo,非综合征性唇腭裂。检查发现患者下方虹膜缺损,玻璃体盖膜,视乳头和脉络膜缺损。核磁共振(MRI)检查显示双侧缺损性小眼球,眼球后囊肿,视神经细。每位唇腭裂患儿需经眼科医师检查以排除可能合并的眼部畸形。     

晶体脱位的人工晶体植入术

晶体脱位的手术治疗以往多行单纯的晶体摘除术[1]，随着手术显微镜的应用和现代人工晶体植入术的开展，我院自1992年1月至1993年12月，对10例晶体脱位患者进行了人工晶体植入术，现将治疗效果报告如下。资料和方法1．临床资料：10例患者均为单眼，男7例，女3例，年龄18～46岁。脱位原因；外伤8例，Marfan氏综合征1例，自发性1例。7例为不全脱位，2例为全脱位，另有1例晶体脱入前房。6例眼压正常，4例有继发性青光眼。7例晶体全混浊，3例晶体混浊不明显。2手术方法：依照一般白内障囊内摘除和后房人工晶体植入术方法在手术显微镜下按常规进…     

Choroidal neovascularization associated with coloboma of the choroid: a series of three cases

Choroidal neovascularization (CNV) is a rare complication associated with coloboma of the choroid. We describe three cases of coloboma choroid where there was loss of vision due to CNV development at the edge of the coloboma. One was managed by photodynamic therapy alone and two were managed by a combination of reduced fluence PDT and intravitreal bevacizumab. Significantly we noted that one treatment session was sufficient to achieve regression of the CNV and improvement in visual acuity.