Persistent Hyperplastic Primary Vitreous A Case Report of Adult Onset Acute Angle-closure Glaucoma

Sawada, Hideko; Fukuchi, Takeo; Ohta, Akiko; Suda, Kieko; Togano, Tetsuya; Nakatsue, Takeshi; Funaki, Sigeo; Hara, Hiroaki; Shirakashi, Masataka; Abe, Haruki

doi:10.1016/s0021-5155(01)00520-2

Cited by 1 publication

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“…Persistent hyperplastic primary vitreous can occur with other disorders such as Axenfeld–Rieger syndrome (involves anomalies of anterior segment of the eye), 15,16 neurofibromatosis, 17 Aicardi syndrome (involves infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae), 18–20 acute angle closure glaucoma, 21,22 myopia, 23,24 neurological abnormalities, 25 retinal tumour, 26 osteoporosis–pseudoglioma syndrome, 27 morning glory syndrome, 28 congenital grouped pigmentation, 29 megalocornea, 30 bilateral retinal vascular hypoplasia, 31 ROP, 32,33 fetal adenoma of the pigmented ciliary epithelium, 34 retinoschisis 35,36 and orbital lymphangioma 37 . These studies imply that: (i) the failure of hyaloid vasculature regression is associated with several ocular pathologies, or a number of diseases can lead to PHPV; (ii) the condition can be caused by many genes; and (iii) there is a relationship between the genes of other disorders and PHPV phenotype.…”

Section: Association With Other Disordersmentioning

confidence: 99%

Persistent hyperplastic primary vitreous: congenital malformation of the eye

Shastry

2009

Clinical Exper Ophthalmology

120

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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.

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