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.     

Persistent hyperplastic primary vitreous associated with retinal folds

The paper presents the case of a 18 years old male suffering from persistent hyperplastic primary vitreous (PHPV) associated with congenital retinal folds. The clinical features and the pathogenic correlations of the two affections are discussed. Comparing to the PHPV, consequence of a embryogenesis flow appeared in the development of the primary hyaloid-vitreous complex, the congenital retinal folds are considered to be the expression of secondary changes, generated by the background of a varied vitreo-retinal pathology.     

Persistent hyperplastic primary vitreous and Aicardi syndrome

INTRODUCTION: Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This disorder affects mostly females, with early embryonic lethality in males. Numerous general and ocular disorders may be associated with this affection. We present here a case of persistent hyperplastic primary vitreous (PHPV) in association with Aicardi syndrome in a 30-year-old woman. CASE REPORT: The authors report a case of a 30-year-old woman with Aicardi syndrome associated with persistent hyperplastic primary vitreous. DISCUSSION: Aicardi syndrome is a polymalformative disease occurring at an early period of embryogenesis. It can affect many ocular structures. This syndrome is essentially described in female children, who rarely reach an adult age. The observation we report is particular because of the patient's age (30-years-old) and the association with a persistent hyperplastic primary vitreous, exceptional in this context. CONCLUSION: With a review of the literature, the Authors discuss the clinical neuroradiological and prognostic aspects of this polymalformative syndrome and different associated general and ocular abnormalities, emphasizing particularly those of persistent hyperplastic primary vitreous in this affection.     

Persistent hyperplastic primary vitreous syndrome in a girl with Aicardi syndrome

Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This disorder affects mostly females with early embryonic lethality in males. We present a case of persistent hyperplastic primary vitreous (PHPV) in association with Aicardi syndrome in a 2-year-old girl.     

Persistent hyperplastic primary vitreous. Middle-term results of vitrectomy]

In this study, the authors present a homogeneous series of seven children suffering from persistent hyperplastic primary vitreous, in its complete anterior and posterior form. These children were operated by pars plana lensectomy and vitrectomy. The surgical operation was beneficial in every case: not only were there no complications, but the operation also prevented progression towards neovascular glaucoma, vitreous hemorrhages and phtisis bulbi. In addition, one of the benefits of this technique was esthetic, with the disappearance of leucocoria, the occasional correction of strabismus and the reduction in microphthalmos. Visual recovery can be surprisingly good, in the absence of any associated retinal malformation.     

Persistent hyperplastic primary vitreous: congenital malformation of the eye

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management.