Persistent Fetal Vasculature

Persistent hyperplastic primary vitreous (PHPV) is a rare ocular disorder caused by the incomplete regression of primary vitreous with the abnormal persistence of hyaloid vasculature. It is the second most common cause of leukocoria after retinoblastoma. Aim of this work is to report the case of unilateral PHPV in a 6 months old child. We will describe the main ocular, echographic and magnetic resonance findings, that are essential to conduct a right differential diagnosis.

Reply to Veromann

Fetal Adenoma of the Pigmented Ciliary Epithelium Associated with Persistent Hyperplastic Primary Vitreous

To observe the manifestations of RetCam Ⅱ and color Doppler imaging (CDI) in a retrospective case series of persistent hyperplastic primary vitreous (PHPV). Retrospective study. The medical records of 9 eyes/9 patients with PHPV went through RetCamⅡ and CDI from 2009 to 2014. There were 6 young boys and 3 young girl in this study, age from 2 months to 5 years. All the patients were born at full term. 9 eyes had complication (cataract). The manifestations of RetCam Ⅱ: There were pale in optic disc. There were white fibre rod connected with optic disc, then prolonged to vitreous cavity, connected with posterior lens capsule. CDI showed arterial blood stream signal in band-shaped echogenic structure within vitreous cavity, prolonged to lens from the optic disc, or showed funnel-shaped echogenic mass at the posterior surface of lens and anterior of vitreous body, adhered to ciliary body, lens and the optic disc. PHPV is congenital ocular anomalies because of a failure of primary vitreous and the hyaloids vascular system to regress. It manifests as unilateral and boys. We diagnosis PHPV by RetCamⅡ and CDI.

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.

A 15-year-old boy underwent phacoemulsification for a membranous cataract during which the presence of anterior persistent hyaloid artery and elongated ciliary processes were discovered. A posterior capsulorhexis was performed and the anterior part of the persistent hyaloid artery stalk was resected together with the posterior capsule. A foldable intraocular lens was implanted and the optic was captured in the posterior capsulorhexis margin. This is an unusual case of congenital membranous cataract associated with malformations of persistent fetal vasculature and elongated ciliary processes.

Bilateral persistent fetal vasculature: A study of 11 cases

Computed Tomography for Diagnosis of Persistent Hyperplastic Primary Vitreous (PHPV)

Persistent hyperplastic primary vitreous (PHPV) is a rare, predominantly unilateral congenital eye pathology associated with delayed reverse development of the hyaloid artery and embryonic vascular membrane of the lens and often co-occurs with congenital cataract and microphthalmos. AIM: To develop optimal differentiated tactics for surgical treatment and correction of aphakia in congenital cataract extraction in children with PHPV. MATERIAL AND METHODS: Fifty-two children (54 eyes) aged 3–10 months to 1 year and 8 months with unilateral (50 eyes, 92.6%) and bilateral (4 eyes, 7.4%) congenital cataract with PHPV were studied. Grade I microphthalmos was noted in 15 eyes; grade II microphthalmos in 9 eyes; a fibrous cord coming from the optic nerve disk in 49 eyes; a persistent vascular bag of the lens in 12 eyes; posterior synechiae in 9 eyes; a retrolental membrane with vessels and elongated ciliary processes fixed to it, occupying 1/8 to 1/2 of the area of the posterior chamber of the eye in 16 eyes; and a dislocation of the lens in 2 eyes. The children were comprehensively examined by biomicroscopy, ophthalmoscopy, biometrics, tonometry, keratorefractometry, B-scanning, ultrasound biomicroscopy, and color Doppler mapping. RESULTS: The clinical picture of eyes with congenital cataract in three groups of children, united by the severity of clinical manifestations of PHPV, was analyzed. Differentiated microsurgical tactics for the removal of congenital cataracts and indications for implantation of intraocular lenses are described. CONCLUSION: The clinical picture of PHPV in children with congenital cataracts is characterized by pronounced polymorphism, indicating the need for a differentiated approach in determining the optimal timing of surgery, surgical tactics, and method of aphakia correction.

To evaluate postoperative outcomes of cataract surgery in children with persistent hyperplastic primary vitreous (PHPV) and factors affecting outcomes. We analyzed 29 eyes of 28 children with PHPV presenting at a tertiary care center in northern India. All eyes underwent phacoaspiration followed by primary posterior capsulotomy with or without cauterization of persistent fetal vasculature under general anesthesia. Hydrophobic intraocular lens was implanted in selective cases. Postoperative outcomes such as clarity of visual axis, need for secondary surgical procedures, and complications were noted. Out of a total of 28 children (16 male and 12 female), 27 were unilateral while 1 patient had bilateral involvement. Mean age at surgery was 25.14 months, ranging from 2 months to 144 months. Mean axial length of the globe at surgery was 19.66 ± 2.28 mm. Cataract surgery with intraocular lens implantation was done in 22 eyes whereas 7 were left aphakic. The most common intraoperative complication noted was intraoperative bleed in 11 eyes (37.9%) resulting in postoperative hyphema in 9 eyes (31%) and vitreous hemorrhage in 8 eyes (27.5%). Visual axis opacification was seen in 12 eyes and all required membranectomy. Three eyes developed glaucoma while retinal detachment was noted in 2 eyes and 1 of them became phthisical. Favorable outcome was more often achieved in anterior PHPV. Surgical outcomes in eyes with PHPV undergoing cataract surgery are limited by intraoperative and postoperative complications such as hyphema, vitreous hemorrhage, recurrent visual axis opacification, glaucoma, and retinal detachment.

Persistent Hyperplastic Primary Vitreous: Surgical Treatment

Mice lacking the Arf tumor-suppressor gene develop eye disease reminiscent of persistent hyperplastic primary vitreous (PHPV). The current work explores mechanisms by which Arf promotes eye development, and its absence causes a PHPV-like disease. Chimeric mice were made by fusing wild-type and Arf(-/-) morulae. In these experiments, wild-type cells are identified by transgenic expression of GFP from a constitutive promoter. PCR-based genotyping and quantitative analyses after immunofluorescence staining of tissue and cultured cells documented the relative contribution of wild-type and Arf(-/-) cells to different tissues in the eye and different types of cells in the vitreous. The contributions of the Arf(-/-) lineage to the tail DNA, cornea, retina, and retina pigment epithelium (RPE) correlated with each other in wild-type<-->Arf(-/-) chimeric mice. Newborn chimeras had primary vitreous hyperplasia, evident as a retrolental mass. The mass was usually present when the proportion of Arf(-/-) cells was relatively high and absent when the Arf(-/-) proportion was low. The Pdgfrbeta- and Sma-expressing cells within the mass arose predominantly from the Arf(-/-) population. Ectopic Arf expression induced smooth muscle proteins in cultured pericyte-like cells, and Arf and Sma expression overlapped in hyaloid vessels. In the mouse model, loss of Arf in only a subset of cells causes a PHPV-like disease. The data indicate that both cell autonomous and non-cell autonomous effects of Arf may contribute to its role in vitreous development.

Two Large Yorkshire piglets were diagnosed as persistent hyperplastic primary vitreous (PHPV). In case 1, the white cord-like structure extending from optic disc to lens was observed in the normal-sized right eye. Case 2 showed buphthalmos of the right eye. The internal structure of the right eye was unclear due to bleeding, but a white cord-like structure was slightly observed. In both cases, histological examinations revealed the fibrovascular cord-like structure in hyaloid vitreous. The retina was detached, and dysplastic nervous tissue was observed in anterior vitreous. Immunohistochemistry using various neural markers suggested that dysplastic nervous tissue was derived from the detached neural retina. By the characteristic macroscopic and histopathological features, both cases were diagnosed as PHPV. To our knowledge, this is the first report of swine PHPV.

We report a case of morning glory syndrome (MGS) associated with persistent hyperplastic primary vitreous (PHPV) and Peters’ anomaly. A 2-day-old girl, born at term with a birth weight of 3,350 g was diagnosed with Peters’ anomaly, cataract, microphthalmia, PHPV, and MGS. A right limbal lensectomy and vitrectomy with stalk cauterization was performed 8 days later. No early postoperative complication occurred, the family was discharged with advice on medication, and follow-up examination was scheduled. The case report reveals the coexistence of PHPV, Peters’ anomaly, and MGS, which may suggest a genetic link.

The authors report a 15-month-old white male and his 30-year-old mother who both have persistent hyperplastic primary vitreous (PHPV) unassociated with other congenital anomalies. Although there are two previous reports of PHPV in siblings suggesting autosomal recessive inheritance, this is the first report compatible with autosomal dominant inheritance.