Secondary childhood glaucoma

继发性儿童青光眼
  • 文章类型: Journal Article
    儿童青光眼是一种罕见的疾病,从出生到青少年时期都是由房水通路异常引起的。大约50-70%的Peters异常伴有继发性儿童期青光眼。青光眼的存在会影响预后。我们报告了因Peters异常引起的继发性儿童青光眼的评估和治疗。一个5个月大的男孩从3个月大开始就出现左眼增大的抱怨。投诉伴随着令人垂涎的眼睛,并且经常在暴露于光线时关闭。左眼看起来比对侧更不透明。麻醉下检查显示,左眼眼压(IOP)为35mmHg,角膜直径为14mm。其他发现是角膜病变,弥漫性角膜水肿,buthalmos,浅前房,前粘连,和鼻区的线性狭缝状瞳孔。患者接受眼用马来酸噻吗洛尔治疗,随后进行小梁切除术。手术后1周,通过触诊评估的IOP表明右眼在正常范围内,而左眼的IOP比正常更高。眼睑痉挛,顿唇,畏光,bleb在上级,结膜下出血,buthalmos,角膜病变,角膜轻度水肿,前房图像浅,左眼眼前段可见后粘连。总之,如果在接受马来酸噻吗洛尔治疗后未观察到眼压降低,则建议进行小梁切开术和小梁切除术.手术管理的选择取决于方案的可行性。
    Childhood glaucoma is a rare disorder that occurs from birth until teenage years caused by an abnormality of aqueous humor pathways. About 50-70% of Peters\' anomaly is accompanied by secondary childhood glaucoma. The presence of glaucoma will affect the prognosis. We reported the evaluation and treatment of secondary childhood glaucoma due to Peters\' anomaly. A 5 months-old boy was presented with the complaint of a enlarged left eye since 3 months old. The complaint was accompanied by a watering eye and frequently closed upon light exposure. The left eye looked opaquer than contralateral. Examination under anesthesia showed that the intraocular pressure (IOP) was 35 mmHg in the left eye and the corneal diameter was 14 mm. Other findings were keratopathy, diffuse corneal edema, buphthalmos, shallow anterior chamber, anterior synechiae, and linear slit shaped pupils in the nasal region. Patient was treated with ophthalmic timolol maleate which was later followed by trabeculectomy. After 1 week post-surgery, IOP assessment by palpation suggested the right eye within normal range while the IOP of left eye was higger than normal. Blepharospasm, epiphora, photophobia, bleb on superior, subconjunctiva bleeding, buphthalmos, keratopathy, minimal corneal edema, anterior chamber with shallow image, and posterior synechia were found in left eye anterior segment. In conclusion, trabeculotomy and trabeculectomy are recommended if there is no reduction of IOP observed after receiving timolol maleate therapy. The choice of surgical management is dependent on the feasibility of the protocol.
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  • 文章类型: Case Reports
    UNASSIGNED: To report a case of congenital ciliary body cysts causing microspherophakia, ectopia lentis, and secondary angle closure glaucoma in an infant.
    UNASSIGNED: A 16-month-old male was found to have bilateral ciliary body cysts associated with zonular laxity or absence causing microspherophakia and ectopia lentis as demonstrated on multimodal imaging. Additionally, the patient had secondary angle closure glaucoma which was likely multi-factorial related to both lens abnormalities and anterior displacement of the iris from the cysts themselves. The patient underwent lensectomy and cyst removal which resulted in intraocular pressure stabilization and visual rehabilitation.
    UNASSIGNED: Congenital ciliary body cysts are a rare cause of lens abnormalities and secondary angle closure glaucoma in children. Information regarding genetic underpinnings or systemic associations is limited.
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  • 文章类型: Case Reports
    未经证实:为首次报道一名患有Axenfeld-Rieger综合征(ARS)的女性患者植入XEN45凝胶支架,一种罕见的先天性异常,由早期胚胎发育过程中异常的神经c迁移引起。这显示了作为ARS继发性青光眼治疗中的新的微创治疗选择的希望。
    未经证实:在霍隆的伊迪丝·沃尔夫森医疗中心对一名31岁女性进行了评估和治疗,以色列。她右眼的视力是手的动作,左眼的视力是20/25。在最大耐受治疗下,左眼的眼内压(IOP)高达31mmHg。她拒绝小梁切除术或青光眼引流装置(GDD)手术,但同意微创青光眼手术(MIGS)。在顺利的手术中植入了Xen装置。术后15个月她的IOP为8mmHg。
    未经批准:XEN植入,在技术上可行时,是ARS中的合适程序。这显示了作为ARS继发性青光眼治疗中的新的微创治疗选择的希望。这具有特别的意义,因为这些患者通常在年轻时需要手术。
    UNASSIGNED: To present the first report of a XEN45 gel stent implantation in a female with Axenfeld-Rieger syndrome (ARS), a rare congenital anomaly caused by abnormal neural crest migration during early embryogenesis. This shows promise as new minimally invasive therapeutic option in the treatment of secondary glaucoma in ARS.
    UNASSIGNED: A 31-year-old female with known sporadic ARS was evaluated and treated at the Edith Wolfson Medical Center in Holon, Israel. The vision in her right eye was hand motion and 20/25 in the left eye. In the left eye the intraocular pressure (IOP) was up to 31 mmHg under maximal tolerated treatment. She refused Trabeculectomy or Glaucoma Drainage Device (GDD) surgery, but agreed to Minimally Invasive Glaucoma Surgery (MIGS). A Xen device was implanted in uneventful surgery. 15 months post operatively her IOP is 8 mmHg.
    UNASSIGNED: XEN implantation, when technically feasible, is a suitable procedure in ARS. This shows promise as new minimally invasive therapeutic option in the treatment of secondary glaucoma in ARS. This has particular significance as these patients often require surgery at a young age.
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  • 文章类型: Case Reports
    背景:严重的先天性眼科畸形和青光眼可能是Coffin-Siris综合征(CSS)患者的重要偶发特征,特别是由SOX11突变引起的Coffin-Siris综合征9(CSS9,OMIM#615866)。最近,原发性(开角型)青光眼在两名儿童中被描述为最常见的Coffin-Siris综合征,CSS1(OMIM#135900)由ARID1B(含AT-富相互作用域的蛋白1B)基因突变。在这篇文章中,我们介绍了青光眼合并Coffin-Siris综合征9的第一份报告,以及继发性青光眼合并任何形式的Coffin-Siris综合征的第一份报告.这些发现表明,在Coffin-Siris综合征患者中,继发性青光眼是偶发的。
    方法:在美因茨的儿童青光眼中心对患有继发性儿童青光眼和其他眼部表现的儿童进行了评估和治疗。德国。全身麻醉下的检查显示眼眼前节发育不全(ASD)(Peters型虹膜角膜发育不全)合并先天性角膜缘干细胞缺乏症(LSCD),无虹膜,和白内障。患者还患有多种其他先天性异常和严重的发育迟缓。为了解释他的异常组合,我们在2018年末和2019年初进行了外周血分子遗传学分析.根据与先天性青光眼相关的18个基因的小组诊断结果,进行了全外显子组测序,发现了一个新的可能的致病性杂合变体c.251G>T,p.(Gly84Val)在SOX11基因(SRY相关的HMG-box基因11)中。该变体从头发生。因此,患者的多种先天性异常和发育迟缓代表Coffin-Siris综合征9(CSS9,OMIM#615866).
    结论:当眼部疾病与其他系统特征同时发生时,遗传分析可能是开创性的。结果表明,青光眼是Coffin-Siris综合征患者的偶发特征。早期治疗可以改善青光眼患者的视力,我们建议Coffin-Siris综合征患者应接受特定的眼科筛查.
    BACKGROUND: Severe congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffin-Siris syndrome (CSS), especially Coffin-Siris syndrome 9 (CSS9, OMIM #615866) caused by SOX11 mutation. Recently, primary (open-angle) glaucoma was described in two children with the most common form of Coffin-Siris syndrome, CSS1 (OMIM #135900) by ARID1B (AT-rich interaction domain-containing protein 1B) gene mutation. In this article, we present the first report of glaucoma with Coffin-Siris syndrome 9 as well as the first report of secondary glaucoma with any form of Coffin-Siris syndrome. These findings indicate that secondary glaucoma is an occasional finding in patients with Coffin-Siris syndrome.
    METHODS: A child with secondary childhood glaucoma and additional ocular manifestations was evaluated and treated at the childhood glaucoma centre in Mainz, Germany. Examination under general anaesthesia revealed ocular anterior segment dysgenesis (ASD) (Peters type iridocorneal dysgenesis) in combination with congenital limbal stem cell deficiency (LSCD), aniridia, and cataract. The patient also had multiple other congenital anomalies and severe developmental delay. To explain his combination of anomalies, molecular genetic analysis from peripheral blood was performed in late 2018 and early 2019. Following normal findings with a panel diagnostic of 18 genes associated with congenital glaucoma, whole exome sequencing was performed and revealed a novel likely pathogenic heterozygous variant c.251G>T, p.(Gly84Val) in the SOX11 gene (SRY-related HMG-box gene 11). The variant had occurred de novo. Thus, the multiple congenital anomalies and developmental delay of the patient represented Coffin-Siris syndrome 9 (CSS9, OMIM #615866).
    CONCLUSIONS: When eye diseases occur in combination with other systemic features, genetic analysis can be seminal. Results indicate that glaucoma is an occasional feature of patients with Coffin-Siris syndrome. As early treatment may improve the visual outcome of patients with glaucoma, we suggest that patients with Coffin-Siris syndrome should receive specific ophthalmological screening.
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  • 文章类型: Journal Article
    OBJECTIVE: To describe the referral patterns of children with primary childhood glaucoma (PCG) or secondary childhood glaucoma (SCG) and their presenting symptoms in Northern Tanzania.
    METHODS: A retrospective observational study of children <17y with PCG or SCG who were referred to Kilimanjaro Christian Medical Centre (KCMC) Eye Department between 2000 and 2013 was conducted. Presenting symptoms, age at presentation, place of origin, distance to hospital, type of glaucoma, visual acuity, optic disc appearance (vertical cup-to-disc ratio) and type of referral were described.
    RESULTS: Seventy patients with PCG and 27 patients with SCG were included in the study. Median age at first presentation was 1y in the PCG group (range 0-16y) and 9y in the SCG group (range 1-15y). In both groups around 87% of the children presented already with low vision (logMAR>0.48, better eye). Most of the children (60%) and their caretakers presented on their own initiative, while 24% were sent by different general health cadres and 16% by eye care professionals. Buphthalmos was the main symptom mentioned as a trigger for presentation.
    CONCLUSIONS: The study shows that most of the children presented late resulting in advanced stages of glaucoma at the time of initiation of treatment. The majority attended the referral eye department on their own initiative with buphthalmos being the most commonly described symptom. Awareness creation among caretakers of children, general health and eye care providers, ideally embedded in general child health promotion activities, is needed to increase and accelerate referrals.
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