Persistent hyperplastic primary vitreous (PHPV) is an idiopathic congenital malformation confined to the eye that has no obvious cause and that is usually unilateral and sporadic. The clinical features of the classic PHPV syndrome include white, vascularized tissue covering some or all of the posterior surface of the lens; centrally dragged ciliary processes; secondary glaucoma caused by swelling of the lens or caused by contracture of the retrolental tissue, with anterior shifting of the lens-iris diaphragm; extensive intravitrael hemorrhaging; persistence of the hyaloid artery; and occasionally retinal detachment. In the present study we describe a patient with bilateral PHPV not associated with other diseases. Normal developmental milestones were reported. Family pedigree analysis revealed a similarly affected father, grandfather, 2 aunts, 1 paternal uncle and a grand uncle with 2 affected daughters. On examination the height, weight and skull circumference were on the 5th percentile. Bilateral B&A eye scan ultrasonography (B mode is two dimensional brightness mode ultrasonography, while A mode is one dimensional where echoes are represented by spikes of variable amplitude and timing) of both the patient and the father revealed a picture suggestive of persistent hyperplastic primary vitreous. Cytogenetics study by conventional culture technique using the CTG banding technique revealed a normal male karyotype 46, XY for both of them. Review of the London Dysmorphology Data Base (LDDB), OMIM, and recent medical literature revealed that this case to our knowledge represents the second report supporting autosomal dominant inheritance of PHPV not associated with other anomalies.

译文

永久性原发性玻璃体增生症(PHPV)是一种特发性先天性畸形,局限于眼睛,无明显原因,通常为单侧和散发性。经典的PHPV综合征的临床特征包括覆盖白色或部分晶状体后表面的白色血管组织。集中拖拉睫状过程;由晶状体肿胀或由后突组织挛缩引起的继发性青光眼,晶状体-虹膜隔膜前移;大量玻璃体内出血;舌骨动脉的持续性;偶尔视网膜脱离。在本研究中,我们描述了双侧PHPV与其他疾病无关的患者。报告了正常的发展里程碑。家庭血统分析显示,父亲,祖父,2个阿姨,1个父亲叔叔和1个有2个受影响女儿的祖父也受到同样的影响。经检查,身高,体重和颅骨围在第5个百分点。患者和父亲的双侧B&A眼部扫描超声检查(B模式是二维亮度模式超声检查,而A模式是一维,其中回声由可变幅度和定时的尖峰表示),显示出提示持续性增生性原发性玻璃体的图像。通过常规培养技术使用CTG显带技术进行细胞遗传学研究,发现两者均具有正常的男性核型46,XY。对伦敦变形形态数据库(LDDB),OMIM和最新医学文献的审查显示,据我们所知,此病例代表了第二个支持PHPV的常染色体显性遗传而不与其他异常相关的报告。

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