Bilateral Persistent Hyperplastic Primary Vitreous Research Articles

A Rare Case Report of the Posterior and Bilateral Persistent Hyperplastic Primary Vitreous (PHPV)

A Rare Case Report of the Posterior and Bilateral Persistent Hyperplastic Primary Vitreous (PHPV)

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.

Bilateral persistent hyperplastic primary vitreous

A case of bilateral persistent hyperplastic primary vitreous (PHPV) in a 3-month-old male infant, who had bilateral leukokoria, is presented. The child was referred for imaging with a clinical suspicion of retinoblastoma. Gray-scale ultrasound evaluation revealed an echogenic band in the posterior segment of both globes, extending from the posterior surface of the lens capsule to the optic disc. Doppler examination revealed the presence of arterial flow in the band in both globes. Associated echogenic hemorrhage was also seen, which was confirmed by computed tomography. Most cases of PHPV are sporadic and unilateral, and bilateral PHPV is rare. The imaging features in this case suggest the diagnosis of bilateral PHPV and differentiate it from retinoblastoma. This entity, although infrequent, should be considered in the differential diagnosis while evaluating bilateral leukokoria.

Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous

Persistent hyperplastic primary vitreous (PHPV) is a rare developmental malformation of the eye characterized by the presence of a vascular membrane located behind the lens. We report, for the first time in the literature, the identification on ultrasound examination of bilateral cataract and thickened hyaloid artery-lens junction, leading to a diagnosis of bilateral PHPV, in a fetus at 23 weeks' gestation. Histological examination at postmortem confirmed the prenatal diagnosis of bilateral PHPV and cataract. A thorough ultrasound examination of the fetal eye in cases with cataract is recommended.

Leukocoria in Children

The aim of this study was to establish the causes of leukocoria in pediatric patients in a tertiary hospital environment. All patients younger than 10 years who presented with leukocoria between January 1, 1999, and December 31, 2000, were included in the study; 39 (55%) patients were boys and 32 (45%) patients were girls. Sixty percent of the patients who presented with leukocoria had congenital cataract (18% unilateral and 42% bilateral). Other causes included retinoblastoma (11% unilateral and 7% bilateral), retinal detachment (2.8% unilateral and 1.4% bilateral), bilateral persistent hyperplastic primary vitreous (4.2%), and unilateral Coats' disease (4.2%). Leukocoria in children demands immediate attention because a significant number of children have pathology that either threatens life or causes permanent visual disability.

Bilateral persistent hyperplastic primary vitreous

We report a case of bilateral persistent hyperplastic primary vitreous (PHPV) in a 5-month-old infant who presented with bilateral leukokoria. The child was referred for ocular ultrasound with a clinical suspicion of retinoblastoma. Grey-scale evaluation revealed an echogenic band in the posterior segment of the left globe extending from the posterior surface of the lens capsule to the optic disc. Doppler examination revealed the presence of blood flow in the band. Ultrasound assessment of the contralateral globe showed an elevated mass of echogenic tissue in the posterior segment, in contact with the optic disc. Most cases of PHPV are sporadic and unilateral. Bilateral PHPV is rare. In a study by Pollard of 83 cases, only two patients (2.4%) had bilateral PHPV. The imaging features in this case point toward the diagnosis of bilateral PHPV. We suggest that this entity, although rare, should be considered in the differential diagnosis while evaluating bilateral leukokoria.

Persistent Hyperplastic Primary Vitreous With Glaucoma Presenting in Infancy

Secondary glaucoma is a common and severe late complication of persistent hyperplastic primary vitreous (PHPV). 1 We describe an infant who presented with bilateral PHPV in which glaucoma presented at birth without an apparent secondary cause. Report of a Case. —A 4-day-old newborn boy with bilateral cloudy corneas was examined after anesthetization. He was the product of a full-term, uncomplicated pregnancy and weighed 2840 g. The delivery was also uncomplicated. The family history was unremarkable. Both corneas were 10.5 mm in diameter and cloudy. The anterior chambers were deep. The irides had engorged vessels (Figure). Intraocular pressure by pneumatonometry was 51 mm Hg in both eyes. The trabecular meshwork could not be visualized owing to corneal edema. After dilation, bilateral fibrovascular plaques adherent to the posterior lens capsules were discovered (Figure). Patent hyaloid arteries could be traced to the optic nerve heads. The cup-disc ratio was 0.8:1 in both eyes.

Rieger's eye anomaly and persistent hyperplastic primary vitreous

The authors present a Turkish family (two generations, five affected persons) with symptoms of Rieger's eye anomaly as well as Persistent Hyperplastic Primary Vitreous (PHPV). Although Rieger's anomaly has been described in combination with other conditions, according to their knowledge a familial combination of Rieger's anomaly and PHPV has never been described before. Only once an isolated case with the combination of an anterior chamber cleavage malformation and bilateral PHPV has been described. The authors suggest two possible explanations for the coexistence of PHPV and Rieger's eye anomaly. It is feasible that we are dealing with symptoms until yet not diagnosed within the anomaly of Rieger. Another possibility is that there is a linkage between the genes for PHPV and Rieger's anomaly and as a consequence they are inherited together in this family.

Microsurgery of Persistent Hyperplastic Primary Vitreous

6 patients with persistent hyperplastic primary vitreous (PHPV) were operated on using microsurgical techniques. There were 5 boys and 1 girl, all with normal birth weight and good general health. PHPV was present in the left eye in 4 patients, in the right eye in 1, and 1 patient had bilateral PHPV. The operative management consisted of a primary large-sector iridectomy (in 4 cases) and suction of the lens, combined with removal of the hyperplastic vitreous using a KlOti Vitreous Stripper in 5 patients, and small anterior chamber scissors in 1 patient. No major operative complications were experienced. The fundus was fully visible in 5 cases while in 1 eye remaining and new proliferations prevented visualization of the fundus. Postoperative visual acuity varied from light perception to 0.2 and the intraocular pressure was within normal limits. It was felt that a useful reserve eye was obtained, with marked improvement of the ocular cosmesis.

Oculodentodigital dysplasia

A five-year-old boy showed a typical oculodentodigital dysplasia (microphthalmos, microcornea, abnormal texture of the iris, corectopia, persistent pupillary membrane, cataract, short palpebral fissures and epicanthal folds). the ERG and VER were extinguished. Echography revealed a bilateral persistent hyperplastic primary vitreous. the cases of the literature are reviewed. In none of them this congenital anomaly was mentioned.