永存原始玻璃体增生症

永存原始玻璃体增生症（PHPV）是一种临床罕见的玻璃体先天发育异常,为胚胎期原始玻璃体未能正常退化所致。近年来对其研究较少,本文复习有关文献,对其病因、临床及病理特征、影像学表现、诊断、鉴别诊断及治疗方法作一简要综述。     

永存原始玻璃体增生症

永存原始玻璃体增生症(PHPV)是一种临床罕见的玻璃体先天发育异常,为胚胎期原始玻璃体未能正常退化所致.近年来对其研究较少,本文复习有关文献,对其病因、临床及病理特征、影像学表现、诊断、鉴别诊断及治疗方法作一简要综述.     

永存原始玻璃体增生症晶状体后纤维血管膜组织病理学观察

目的 研究永存原始玻璃体增生症(PHPV)患者晶状体后纤维血管膜的组织病理学特点,以期探讨其可能发病机制.方法 实验研究.对手术获取的6例(6只眼)PHPV患者晶状体后纤维血管膜HE染色和PAS染色,光镜下观察;应用Ⅰ型胶原抗原、Ⅷ因子相关抗原、平滑肌肌动蛋白、上皮膜抗原、神经元特异性烯醇化酶、胶原纤维酸性蛋白及增殖细胞核抗原进行免疫组织化学染色,观察其组织病理学特点和细胞增殖情况;应用TUNEL染色法观察其细胞凋亡情况.结果 HE染色可见PHPV晶状体后纤维血管膜含有致密的纤维结缔组织,其中可见淋巴细胞、肥大细胞等炎性细胞;PAS染色该组织内含有大量黏多糖成分;免疫组织化学染色可见PHPV晶状体后纤维血管膜中存在Ⅰ型胶原、上皮组织、平滑肌组织、血管组织和神经组织,并存在大量增殖细胞;TUNEL染色证实纤维血管膜中存在凋亡细胞,晶状体后囊膜下亦存在凋亡的晶状体上皮细胞.结论 PHPV晶状体后纤维血管膜组织构成与原始玻璃体细胞构成存在一致性,其形成机制可能系晶状体后纤维血管组织过度增殖及退化不足.炎症因素在其退化过程中扮演重要角色.     

永存原始玻璃体增生症的玻璃体手术治疗三例

永存原始玻璃体增生症(persistent hyperplastic primary vitreous，PHPV)是一种少见的先天性眼球发育异常，临床表现为一系列眼部异常，包括白瞳症，小眼球，前部或/和后部玻璃体血管残留。继发性青光眼、牵拉性视网膜脱离是视力丧失的常见原因。有手术适应证的病例及时手术对恢复视力、防止严重并发症、保存眼球有重要意义。本文报告3例(4只眼)PHPV玻璃体手术治疗，评估玻璃体手术在PHPV治疗中的作用。     

永存原始玻璃体增生症的临床分析

目的探讨永存原始玻璃体增生症(persistent hyperplastic primary vitreous,PHPV)经过手术或非手术治疗的视力预后及影响因素。方法回顾性分析我院2007年1月至2009年12月23例(25眼)PHPV患者的临床资料,20眼行玻璃体或晶状体切除手术,5眼未手术。术后随访1.0~2.5a,观察临床特征、视力预后及术后并发症等情况。结果 B超检查示25眼均有从视盘发出的蘑菇状回声;彩超示玻璃体内条索状回声影内有连续血流,由视盘向晶状体后延伸。手术组术后最佳矫正视力达有用视力14眼,其中小眼球畸形1眼,正常眼轴13眼,二者相比差异有统计学意义(P=0.014);视网膜脱离、皱襞及发育异常者3眼,无该病变者11眼,二者比较差异有统计学意义(P=0.018)。非手术组随访期内最佳矫正视力无一眼获得有用视力。术后手术组慢性低眼压、玻璃体出血1眼。结论 PHPV患者通过手术治疗可以改善视力、防止并发症;未手术治疗者视力预后差。视力预后与小眼球畸形、视网膜脱离、皱襞及发育异常有关。     

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。     

永存原始玻璃体增生症的临床表现及晶状体后纤维血管膜的病理学特征

背景 永存原始玻璃体增生症(PHPV)为儿童的先天性眼部疾病,因为其临床表现无特异性,易误诊为先天性白内障,预后较差.以往对PHPV的临床特点研究较多,但对其组织病理学特点和免疫组织化学染色的特点报道很少. 目的 研究PHPV的临床表现和晶状体后纤维血管膜的组织病理学特点,为其病理机制研究提供依据.方法 采用回顾性系列病例研究方法,收集2005年5月至2014年12月诊治的6例6眼PHPV患者的临床资料,所有患眼均接受先天性白内障针吸联合前部玻璃体切割术,对术中获取的晶状体后纤维血管膜标本进行苏木精-伊红染色和过碘酸希夫染色,分析其组织病理学特点.采用Envision二步法行免疫组织化学染色,检测晶状体后纤维血管膜标本中波形蛋白(Vimentin)、平滑肌肌动蛋白(SMA)、S-100、胶质纤维酸性蛋白(GFAP)、神经元特异性烯醇化酶(NSE)、上皮膜抗原(EMA)、CD34和增生细胞核抗原(PCNA)的表达情况.结果 6例患儿均于出生后发现单眼PHPV,主要临床表现类似于先天性白内障,其中5眼A型超声检查显示患眼眼轴短于对侧健眼,1眼伴眼球震颤、斜视和小角膜.6例患儿均行白内障针吸术联合前部玻璃体切割术,术中可见晶状体后囊膜后有白色纤维血管膜,其中2眼的纤维血管膜与玻璃体内纤维束相连.晶状体后囊膜纤维血管膜标本的组织病理学检查显示,纤维血管膜主要由疏松或黏液样结缔组织纤维、毛细血管或小静脉血管组成,有些病例内可见过碘酸希夫阳性染色物质、残留的透明状玻璃体动脉或分化的脂肪细胞.免疫组织化学检测显示,晶状体后囊膜纤维血管膜中可见短梭形或梭形细胞,具有纤维细胞的特点,部分细胞具有肌纤维母细胞的特征,增生活性较低.1例标本中可见纤维血管膜伸入晶状体囊膜内,导致晶状体和睫状体的发育异常.4例患儿随诊6～9年,术后最佳矫正视力(BCVA)分别为0.06、光感、0.05和0.07,眼压正常.结论 PHPV首诊多误诊为先天性白内障,术后BCVA较差.晶状体后纤维血管膜主要是由于原始玻璃体内中胚叶细胞持续增生和透明动脉不能退化所致,纤维血管膜的增生导致晶状体发育异常.     

先天性蹼状永存瞳孔膜显微切除术

目的 探讨先天性较大范围永存瞳孔膜的手术治疗。方法 在显微镜下,作角膜缘3mm切口,用囊膜剪沿瞳孔残膜始部剪断,用囊膜镊夹住取出,晶状体前囊的瞳孔残膜用注吸针头吸出,切口不缝合,结果 手术5例9例,瞳孔残膜全部取出,无晶状体混浊,前房出血等并发症发生。视力有不同程度增进,效果满意。结论 较大范围的先天性瞳孔残膜可应用显微手术治疗。     

23-G玻璃体手术治疗永存原始玻璃体增生症

目的分析23G微创玻璃体手术治疗永存原始玻璃体增生症的临床效果。方法永存原始玻璃体增生症患儿19名（19眼）,应用23G微创玻璃体手术系统行晶状体摘出联合玻璃体切除术,其中15例一期植入人工晶状体。术后随访6—36个月。观察术中、术后并发症,视力恢复及结构恢复情况。结果术中及术后均无明显的并发症;至随访期末,17眼（89．47％）视力有不同程度的提高,19例均获得了一定的视力,未发生因病情发展或因并发症而导致二次手术者。其中视力无变化者2眼,术中检查发现存在视网膜发育异常。结论应用23G微创玻璃体手术治疗永存原始玻璃体增生症是一种安全有效的方法,并发症少,术后反应轻,尽早手术可保护有用视力,防止并发症发生。     

先天性蹼状永存瞳孔膜显微切除术

目的 探讨先天性大范围永存瞳孔膜的手术方法。方法 在显微镜下，作角膜缘3mm切口，用晶状体囊剪沿瞳孔残膜始部剪断，用囊镊夹住取出，晶状体前囊所剩的残膜用注吸针头吸出，切口不必缝合。结果 手术5例9眼，瞳孔残膜全部取出。无晶状体浑浊或前房积血等并发症发生，视力有不同程度增进，效果满意。结论 大范围的先天性瞳孔残膜应用显微手术治疗效果满意。     

Phacoanaphylactoid reaction in persistent hyperplastic primary vitreous

Three cases of persistent hyperplastic primary vitreous (PHPV) showing a ruptured lens capsule and a phacoanaphylactoid reaction are presented. In two cases, there was evidence that the lens had been clinically clear in the presence of a ruptured capsule and posterior cortical granulomatous reaction. The capsular rupture and granulomatous reaction can begin in utero, as shown by the third case, a premature who died at one day of age. It is suggested that a phacoanaphylactoid reaction can contribute to the lens swelling, cataract, and anterior chamber narrowing which often initiate the downhill course in eyes with PHPV. The immunological implications of this reaction are discussed.     

Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous

AIM: To evaluate the surgical treatment and visual outcomes of eyes with cataract and persistent hyperplastic primary vitreous (PHPV). METHODS: This retrospective study included patients with cataract and PHPV treated with various strategies. Anterior PHPV was treated using phacoemulsification with underwater electric coagulation on posterior capsule neovascularization, posterior capsulotomy, anterior vitrectomy, and intraocular lens (IOL) implantation. Posterior PHPV was treated with lensectomy, posterior vitrectomy, retinal photocoagulation, and IOL implantation or silicone oil tamponade. Visual acuity (VA), pattern visual evoked potential (P-VEP), anatomic recovery, postoperative complications, and amblyopia outcome were examined. Subjects were followed-up for 3-48mo after surgery. RESULTS: Of the 30 patients (33 eyes) with congenital cataract and PHPV included (average age, 39.30±35.47mo), 9 eyes had anterior PHPV and 24 had posterior PHPV. Thirty-two eyes were surgically treated. Eyes with anterior PHPV received an IOL during one-stage (6 eyes) and two-stage (3 eyes) implantation. Postoperative complications included retinal detachment (1 eye) and recurrent anterior chamber hemorrhage (1 eye). In eyes with posterior PHPV, 6 and 11 eyes received IOLs in one- and two-stage procedures, respectively. Silicone oil was retained in 2 eyes, and IOLs were not implanted in 4 eyes. VA significantly improved in 25 eyes following operations and 3-48mo of amblyopia treatment. P-VEP P100 was improved following surgery in both PHPV types. CONCLUSION: Our surgical strategies are appropriate and effective for anterior and posterior PHPV. Early surgical intervention and amblyopia therapy result in positive treatment outcomes.     

重视婴幼儿永存胚胎血管的诊断和治疗

永存胚胎血管（PFV）是一组与胚胎血管退化失常相关的异常临床表现,如瞳孔残膜、晶状体后纤维血管膜,Mittendorf点、Bergmeister乳头、黄斑发育不全、视神经发育不良、视网膜皱褶等,大部分情况伴有晶状体混浊。由于PFV在临床上比较少见,表现形式又多种多样,是否正确诊断和合理治疗将显著影响患眼的预后。随着二孩政策而来的生育潮,小儿PFV病例可能会有所增加,笔者将从临床表现、诊断、分型、治疗等方面进行阐述,希望能规范该病的诊治并提高疗效。     

经角巩膜缘入路玻璃体切割手术治疗永存原始玻璃体增生症合并前房消失及角膜混浊的疗效观察

目的 观察经角巩膜缘入路玻璃体切割手术治疗永存原始玻璃体增生症（PHPV）合并前房消失、角膜混浊的临床效果。方法 临床确诊为PHPV且合并前房消失、角膜混浊的16例患儿16只眼纳入研究。所有患眼均为混合型PHPV,其中央角膜混浊、前房消失、瞳孔闭锁前粘连、晶状体混浊。患眼中,视力为跟随运动1只眼,强光刺激反应15只眼。合并有小眼球7只眼,视网膜全脱离4只眼,视盘发育不良3只眼,局限视网膜皱襞1只眼,高眼压4只眼。所有患眼行经角巩膜缘入路玻璃体切割手术,手术中分离房角、瞳孔成形,切除晶状体组织及其后增生膜,切除或切断晶状体后原始玻璃体增生条索;视网膜脱离者于玻璃体切割手术后注入长效气体。手术后随访时间为9~21个月,平均随访时间15.8个月。观察患眼视力、眼压和眼前后节结构。结果 手术中所有患儿均未出现玻璃体积血、医源性视网膜裂孔等并发症。末次随访时,所有患眼前房深度正常,瞳孔圆形,视轴中心区暴露,角膜混浊程度较手术前减轻。视力强光刺激8只眼,不配合视力检查但有注视跟随运动者6只眼,最佳矫正视力为20/940者1只眼,最佳矫正视力为20/500者1只眼。4只视网膜脱离眼中,视网膜复位3只眼,占75%;视网膜未复位1只眼,呈视网膜部分展开。手术前高眼压的4只眼中,手术后眼压降至正常3只眼,占75%;手术后眼压控制不理想1只眼,占25%。 结论 经角巩膜缘入路玻璃体切割手术能有效控制PHPV合并前房消失、角膜混浊患眼的病变发展,改善眼球外观,提高视力。     

Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature

This is a clinicopathologic study of 62 cases of persistent hyperplastic primary vitreous (PHPV). The cases were divided into two main groups. Group 1 consisted of 55 unilateral cases not associated with any systemic abnormalities, including 36 eyes (58%) which were considered “pure cases” (Group 1A) and 19 (31%) which disclosed other ocular abnormalities in addition to PHPV (Group 1B). Group 2 consisted of 7 (11%) bilateral cases of PHPV accompanied by other ocular and systemic malformations. The most common presenting clinical signs are leukocoria, microphthalmia and cataract. The main histopathologic features of this condition are outlined, including those responsible for the disastrous to the eye (retinal detachment, glaucoma, phthisis bulbi). Several clinical entities, usually mistaken for or associated with PHPV, such as retinoblastoma, congenital cataract, retinal dysplasia, trisomy 13 syndrome, and falciform retinal folds are discussed briefly.     

Application of immersion B-scan ultrasonography in diagnosis of complex retinal detachment, persistent hyperplastic primary vitreous and intraocular tumors

AIM: To evaluate the diagnostic value of panoramic immersion B-scan ultrasonography (Pano-immersion B-scan, PIB) in complex retinal detachment (RD), persistent hyperplastic primary vitreous (PHPV) and intraocular tumors. METHODS: The clinical data of 44 patients collected from May 2012 to December 2019 in Chinese PLA General Hospital was retrospectively studied. All of these patients underwent PIB of the eye, because it was difficult to diagnose by routine ocular fundus examination, conventional ultrasound or/and ultrasonic biomicroscope (UBM) due to opacity of refractive media, pupillary occlusion, large involvement or special location of the lesion. The imaging features of difficult cases in PIB were analyzed. The diagnosis accuracy rating of PIB were evaluated and contrasted with conventional ultrasound or UBM by the standard of intraoperative diagnosis or/and pathological results. RESULTS: According to intraoperative diagnosis or pathological results as gold standard, among the 44 cases, there were 19 cases missed diagnosis, misdiagnosed or difficult-to-diagnose by conventional ultrasound or UBM, including 4 cases of long-standing RD difficult to diagnose, 4 cases misdiagnosed, and 11 cases incompletely observed or miss diagnosed. The diagnostic accuracy rate of PIB and conventional ultrasound or UBM were 100% (44/44) and 56.82% (25/44), and the sensitivity of them were 100% and 56.82%. All the patients underwent PIB and were diagnosed as RD (15 cases), retinal and choroidal detachment (4 cases), subchoroidal hematocele (1 case), vitreous opacity and/or organic membrane formation (4 cases), PHPV (12 cases), iris and/or ciliary body tumors (3 cases), and choroidal tumors (6 cases). According to the intraoperative diagnosis or pathological results, the diagnostic coincidence rate of PIB was 100%, which was significantly higher than conventional ultrasound and UBM. CONCLUSION: PIB can help to accurately diagnose complex RD, PHPV, and intraocular masses with special location or/and excessive size. It has important diagnostic value for patients with equivocal findings at conventional ultrasound examination.     

婴幼儿白内障合并玻璃体异常的临床特点和病因分析

目的 探讨婴幼儿白内障合并玻璃体异常的临床特点和病因。设计 回顾性、非对照病例研究。研究对象 84例（114眼）3岁以下眼部彩色多普勒超声检查提示玻璃体异常的婴幼儿白内障患儿。方法 回顾性总结2013年1月至2014年7月在北京同仁医院眼科接受手术治疗的3岁以下合并玻璃体异常的婴幼儿白内障患儿。记录患儿月龄、主诉、体征、超声检查及超声诊断、术后确定诊断、既往史、家族史和母亲孕产史,对婴幼儿白内障合并玻璃体异常的病因和临床特点进行分析。主要指标 月龄、症状、病程、体征、超声表现及超声诊断、确定诊断。结果 在84例（114眼）患儿中,发病月龄0~15个月,平均（2.7±3.0）个月,确诊月龄2~20个月,平均（7.8±4.2）个月。81例（96.4%）为家长发现异常,3例（3.6%）为体检查出异常。主要首发症状为白瞳39例（46.4%）,不追物 16例（19.0%）,斜视10例（11.9%）,双眼不等大7例（8.3%）。白内障表现为全白内障75眼（65.8%）,后极性白内障38眼（33.3%）,膜性白内障1眼（0.9%）,可伴有眼球震颤、斜视、小眼球、浅前房、继发性青光眼、瞳孔残膜、牵拉性视网膜脱离、脉络膜缺损等。超声诊断为永存原始玻璃体增生症（PHPV）111眼（97.4%）,视网膜脱离 3眼（2.6%）。术后明确病因为 PHPV 76眼（66.7%）,家族性渗出性玻璃体视网膜病变14眼（12.3%）,先天性白内障24眼（21.0%）。69.3%患眼超声诊断与术后诊断一致。结论 婴幼儿白内障合并玻璃体异常患儿就诊时月龄较大,多以家长发现白瞳就诊,可伴有多种眼部异常,术前眼部彩色多普勒超声检查有助于发现玻璃体视网膜病变。（眼科,2015, 24： 103 -107）     

A comparison study of the clinical features between Chinese and Indian primary congenital glaucoma patients

To summarize the clinical features of Chinese primary congenital glaucoma(PCG) and to investigate the discrepancies of the clinical features between the Chinese and Indian patients. · METHODS: Clinical records of 40 Chinese PCG patients were reviewed. The clinical features were summarized as several quantifiable clinical parameters and the severity of the disease was evaluated. Both the quantified clinical features and severity were statistically compared with those of the Indian patients, which were cited from the previously published articles. · RESULTS: Forty Chinese and 43 Indian patients were included in the study. In Chinese patients, sex ratio (male to female )was about 2:1, family history was presented in 3 patients(7.5%) and consanguinity was found in one patient (2.5%). The main symptoms and signs observed in Chinese patients spanned a wide spectrum of manifestations. The most frequent signs noted in the initial examination were enlarged eyeball (42.5%) and decreased visual acuity(VA)(35.0%). Compared with Indian patients, Chinese patients had a later onset, a delayed diagnosis , more severe corneal changes and more severe optic nerve damages(P <0.01). The combined trabeculectomy and trabeculotomy operation was preferred by both Chinese and Indian doctors whereas a higher proportion of Indian patients received the combined operation (P <0.01). The proportions of the severity grade were different between Chinese and Indian patients. Most Chinese patients were in the severe grade while most Indian patients were in the very severe grade (P <0.01). · CONCLUSION: Chinese PCG patients were sporadic and non-consanguineous. Compared with Indian patients, Chinese patients had a relative later onset, a delayed diagnosis and treatment. More attempts are needed in Chinese PCG prevention and treatment.