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Background: Persistent fetal vasculature (PFV) is a spectrum of congenital anomalies caused by complete or partial failure of the ocular fetal vasculature to regress. We report the visual and anatomic outcomes in a large cohort of patients who underwent early surgery for PFV., Methods: We retrospectively reviewed the medical records of patients who underwent lensectomy and anterior or core vitrectomy for unilateral PFV without primary intraocular lens implantation through limbal or pars plana/plicata approach. Inclusion criteria were surgery prior to 7 months of age, with at least 12 months of follow-up. Eyes with severe posterior segment involvement and retinal detachment deemed beyond repair were excluded., Results: A total of 58 patients met inclusion criteria. Mean age at surgery was 2.1 ± 1.5 months. Mean follow-up was 6.7 ± 4.2 years. At final follow-up, 19 eyes (33%) had visual acuity better than 1.0 logMAR. Thirty-three eyes (57%) developed 1 or more postoperative adverse events: glaucoma in 21 (36%) and retinal detachment in 11 (19%), 8 of which occurred in eyes that had pars plana or pars plicata incisions (P = 0.002). In patients with limbal incisions, 17 of 40 (43%) achieved a visual acuity better than 1.0 logMAR, compared with 2 of 18 patients (11%) with a pars plana/pars plicata incision (P = 0.03)., Conclusions: In our study cohort, early surgery for PFV achieved functional visual acuity in about one-third of patients. Limbal approach to surgery may result in better visual acuity and anatomic results., (Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Purpose: The purpose of this study was to classify combined persistent fetal vasculature (PFV) on the basis of the ultrasonographic and Doppler characteristics. The potential clinical significance for both surgery design and prognosis determination was discussed., Design: A cross-sectional case series., Participants: The eyes of 54 children diagnosed with unilateral combined PFV were evaluated using B-mode ultrasound and color Doppler imaging (CDI)., Methods: Each participant's age at first presentation, diagnosis for referral, gender, family history, and systemic or other ocular anomalies were recorded. Retinal detachment, optic nerve abnormalities, and macular dislocation were also recorded in detail according to the RetCam (Clarity Medical Systems, Pleasanton, CA), ultrasound, and Doppler findings. The PFV eyes were divided into 4 groups on the basis of the ultrasound and CDI findings. Intergroup analysis was performed., Main Outcome Measures: Overall and intergroup analyses of the demographic features of the children with PFV were performed. The axial length, depth of the anterior chamber, and lens thickness were compared between the affected eyes and the fellow healthy eyes among the 4 groups., Results: Some 22.2%, 18.5%, 33.3%, and 25.9% of the eyes were grouped into type I ("I" shape), II ("Y" shape), III (inverted "Y" shape), and IV ("X" shape) combined PFV, respectively. The age at first presentation for type I was older than that for the other groups (P = 0.014). The axial length was reduced (P = 0.012) and the anterior chamber more shallow (P = 0.011) than in fellow healthy eyes for type IV eyes, but not for the other 3 groups., Conclusions: Ultrasound and CDI are informative screening and diagnostic tools that show characteristic flow patterns in the 4 types of combined PFV. This novel classification system provides new and important information for the diagnosis of PFV and, if validated, may play a role in guiding treatment recommendations in the future., (Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

The persistence of the fetal vascular system is a rare ocular malformation whose origin remains unknown. It comprises a group of complex ocular malformations from which the various clinical forms have a heterogeneous functional prognosis. The diagnosis depends on a precise and complete examination of the child's eye, often under general anesthesia. Various clinical forms can be found together, ranging from the tiny form with no visual repercussion or ocular or systemic anomaly associated with the major forms involving the totality of the ocular structures and systemic syndromes. A systematic general pediatric examination is therefore recommended. The treatment is adapted individually for early and specific surgical and medical treatment. In the event of intervention, the induced aphakia will be corrected in one procedure with an implantation, generally sutured with the sclera, or at the time of a second intervention after the wearing of glasses or a contact lens. However, the complications can sometimes lead to rapid phthisis bulbi. Whatever solution is chosen, the final functional result has progressed thanks to early diagnosis, the surgical techniques suggested, even if implantation continues to be debated. Amblyopia must be treated for the entire sensitive period. However, despite good rehabilitation, the average functional prognosis remains disappointing, probably because of the overall ocular malformation.

Purpose: 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., Methods: 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., Results: 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., Conclusions: 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.

We describe a father and son with persistent hyperplastic primary vitreous occurring in association with neurofibromatosis 2. This report demonstrates rare vertical transmission compatible with autosomal dominant inheritance and the uncommon association of the autosomal dominant systemic disorder neurofibromatosis 2.

Purpose: Pseudorabies virus (PRV), a representative member of the alpha-herpesvirus family, causes nervous symptoms and ocular lesions, such as keratoconjunctivitis and retinal degeneration in piglets. The immediate-early protein IE180 of the PRV is known to be essential, not only in viral gene expression, but also in the cellular gene expression in host cells. The purpose of this study was to examine the effect of IE180 on the development of the mouse eye, by using transgenic technology., Methods: Transgenic mice expressing IE180 were generated and their eyes analyzed by histology, immunocytochemistry, and the bromodeoxyuridine cell proliferation assay., Results: A fibrovascular retrolental tissue analogous to persistent hyperplastic primary vitreous (PHPV) in humans was observed in a transgenic mouse line expressing IE180. The gross anatomy of the eye showed white pupils. Analysis of hematoxylin and eosin-stained sections revealed that the retrolental tissue adhered to the neuroretina, the inner nuclear and ganglion cell layers were disorganized, and rosettelike arrangements of dysplastic photoreceptor cells were present. Bromodeoxyuridine-positive cells were detected in the retrolental tissues of postnatal day (P)1, P7, and P14 mice. The retrolental mass in the P7 transgenic mouse was composed of melanocytes and endothelial cells, which were detected by a cocktail of antibodies against endoglin, CD31, and VEGF receptor-2., Conclusions: The observation that the eye disease in transgenic mice is similar to that in PHPV in humans raises the possibility that expression of the immediate-early gene of alpha-herpesviruses may contribute to PHPV.

Background: The mechanism responsible for optic disc pit maculopathy is unclear, but abnormal vitreous structures, including the anomalous Cloquet's canal at the optic disc pit, have been suggested as important factors., Case: We report the intraoperative and ultrastructural findings of an unusual posterior vitreous strand in the eye of an 8-year-old girl with optic disc pit maculopathy., Observations: The patient presented with decreased vision in the left eye. Examination of the left eye revealed a best-corrected visual acuity (VA) of 0.08 and a macular detachment associated with an optic disc pit. Vitrectomy was performed with the adjunctive use of triamcinolone acetonide intraoperatively. The presence of an unusual posterior hyaloid strand tightly attached to the margin of the optic disc pit was noted. An unusual movement of this strand was observed during the surgery. The strand was excised, and fluid-gas exchange was performed using gas tamponade with 20% SF(6). After 12 months, a complete macular reattachment was obtained, with the VA improving to 1.2. Electron microscopic examination of the removed strand revealed abundant thick collagen fibrils with a frame of fine fibrils., Conclusion: The unusual posterior vitreous strand connected to the optic disc pit may have contributed to the pathogenesis of maculopathy in this young child.

Purpose: Persistent hyperplastic primary vitreous (PHPV) is an idiopathic developmental eye disease associated with failed involution of the hyaloid vasculature. The present work addressed the pathogenesis of PHPV in a mouse model that replicates many aspects of the human disease., Methods: Ophthalmoscopic and histologic analyses documented pathologic processes in eyes of mice lacking the Arf gene compared with Ink4a-deficient and wild-type control animals. Immunohistochemical staining, in situ hybridization, and RT-PCR demonstrated the expression of relevant gene products. Arf gene expression was determined by in situ hybridization using wholemounts of wild-type mouse eyes and by immunofluorescence staining for green fluorescent protein (GFP) in Arf(+/GFP) heterozygous knock-in mouse eyes., Results: Abnormalities in Arf(-/-) mice mimicked those found in patients with severe PHPV. The mice had microphthalmia; fibrovascular, retrolental tissue containing retinal pigment epithelial cells and remnants of the hyaloid vascular system; posterior lens capsule destruction with lens degeneration and opacity; and severe retinal dysplasia and detachment. Eyes of mice lacking the overlapping Ink4a gene were normal. Arf was selectively expressed in perivascular cells within the vitreous of the postnatal eye. Cells composing the retrolental mass in Arf(-/-) mice expressed the Arf promoter. The remnant hyaloid vessels expressed Flk-1. Its ligand, vascular endothelial growth factor (Vegf), was expressed in the retrolental tissue and the adjacent dysplastic neuroretina., Conclusions: Arf(-/-) mice have features that accurately mimic severe PHPV. In the HVS, Arf expression in perivascular cells may block their accumulation or repress Vegf expression to promote HVS involution and prevent PHPV.

Purpose: To investigate the nature and origin of the vitreous membranes in mice with knock-out of the Norrie gene product (ND mice)., Methods: Eighty-two eyes of ND mice of different age groups (postnatal day [P]0-13 months) and 95 age-matched wild-type control mice were investigated. In vitreoretinal wholemounts and in sagittal sections, vessels and free cells were visualized by labeling for lectin. In addition, staining with a marker for macrophages (F4/80) and collagen XVIII/endostatin known to be involved in regression of hyaloid vessels was performed for light and electron microscopic investigations. Endostatin expression was confirmed by Western blot analysis., Results: Wild-type controls showed the typical pattern of hyaloid vessels, their regression and concomitantly retinal vasculogenesis and angiogenesis. Hyaloid vessels all stained for endostatin, whereas retinal vessels remained unstained. In ND mice, 1 to 5 days after birth, the hyaloid and retinal vasculatures were comparable to that in control mice. The hyaloid vessels also stained for endostatin. Numerous F4/80-positive cells were present adjacent to the vessels. With increasing age, only a few connecting branches of the hyaloid vessels regressed. Even in old mice most of the hyaloid vessels persisted. The vessels still stained for endostatin. Retinal angiogenesis was impaired., Conclusions: Retrolental membranes in ND mice consist of persistent hyaloid vessels, indicating that the ND gene product is important for the process of regression of these vessels. The ND gene product neither influences endostatin expression nor the presence of macrophages.

Purpose: To determine indications and document anatomic and functional outcomes for lens-sparing vitreous surgery in eyes with predominantly posterior persistent fetal vasculature syndrome and nonaxial lens opacification., Study Design: Retrospective interventional clinical series., Methods: The authors performed lens-sparing vitreous surgery on nine eyes of infants with predominantly posterior persistent fetal vasculature syndrome and nonaxial lens opacification without removing the crystalline lens. Indications for surgery included primarily posterior complications of persistent fetal vasculature syndrome (localized tractional retinal detachment), a centrally clear lenticular axis, and frequently strabismus., Results: Postoperatively, seven of nine eyes showed no evidence of increasing lens opacification with a median follow-up period of 16.8 months (range, 5-29 months). The first eye operated on developed a rapidly progressive cataract and prompted modification of the surgical technique. One additional eye also required cataract extraction for progressive lenticular opacification 23 months after surgery. No eyes developed postoperative retinal detachment, and all eyes maintained vision at the final follow-up. Of the seven eyes with strabismus, five improved after vitreous surgery alone, and two required additional strabismus surgery., Conclusions: This series shows that, in selected cases of persistent fetal vasculature syndrome that are predominantly posterior in nature with nonaxial lens opacification, lens-sparing vitrectomy can be of benefit.

Purpose: To identify clinical characteristics associated with outcomes of treatment for persistent fetal vasculature (PFV based on a modified classification., Methods: In this noncomparative case series, 54 eyes of 47 consecutive patients with PFV managed from 1981 until 1998 at a tertiary eye hospital were reviewed. Pars plicata lensectomy and vitrectomy was performed in 34 eyes and translimbal lensectomy and vitrectomy in five. Fifteen eyes were managed non-surgically. The following outcomes were measured: 1) "Visual improvement", defined as at least one Zipf's category improvement of best corrected final vision as compared with initial visual acuity, provided that final vision of CSUM (central, steady, unmaintained) equal to 20/100-20/30 was obtained. 2) "Cosmetic acceptability", defined as the absence of the following: small orbit, externally small appearing eye with microcornea and hypotony, eye deviation more than 35 prism diopters without strabismus surgery and corneal opacity., Results: Six eyes were inoperable. In 10 out of 33 operated eyes (30.3%) improvement of vision was obtained including four eyes with an anterior form and six eyes with a combined form of PFV. In univariate analysis, factors such as anterior form of PFV surgery in the combined form and having a normal retina, had a weak association with a higher chance of visual improvement. In multivariate regression analysis the likelihood of unacceptable cosmetic appearance was higher in females than males (OR = 10.5), and in bilateral cases (OR = 7.9). Offspring of consanguineous marriages had more severe forms of PFV., Conclusions: Although visual potential is limited in PFV some eyes with an anterior or combined form and normal retina achieved improvement of visual acuity after surgery. However, statistically no single factor except sex and bilateral PFV (for cosmetic unacceptability) reliably predicted the results of treatment. Therapy should be individualized based on clinical findings. Genetic studies in offspring of consanguineous marriages with PFV may prove informative.

Purpose: To evaluate a surgical technique that allows safe, effective, near-total removal of retrolenticular fibrotic membranes in eyes with persistent fetal vasculature syndrome (PFVS)., Setting: Pediatric ophthalmologist's academic practice., Methods: This retrospective review comprised 5 children (6 eyes) who had excision of a retrolenticular fibrovascular membrane during cataract surgery over a 6-month period. Long, spoke-like radial incisions of the membrane were made to the ciliary processes, resulting in wedge-shaped segmentation of the membrane. A vitrector was used to excise each wedge and perform an anterior vitrectomy., Results: The mean age at time of surgery was 8 months (range 1 to 24 months) and the mean follow-up, 9 months (range 2 to 13 months). The membrane was successfully removed in all eyes. One eye of a patient who did not comply with the postoperative medical regimen or follow-up developed pupillary block glaucoma requiring pupilloplasty and trabeculectomy., Conclusion: This anterior surgical technique to remove tenacious retrolenticular membranes associated with PFVS was effective, allowing near-total removal of the offending fibrovascular membrane.

Herpes simplex virus can cause serious ocular and systemic disease in the neonate. The mode of transmission to the neonate is usually from the maternal birth canal to the fetus intrapartum; but much more rarely, hematogenous transplacental infection can affect the developing fetus months prior to birth. Persistent fetal vasculature occurs when there is persistence of the fetal ocular vasculature, which normally regresses prior to birth. To our knowledge, we report the first case of serologically proven intrauterine herpes simplex virus infection associated with bilateral persistent fetal vasculature in a surviving term infant. Arch Ophthalmol. 2000;118:837-840

Purpose: To investigate visual acuity outcomes in patients with persistent fetal vasculature (PFV) left untreated or treated with vitreoretinal surgical techniques and to investigate clinical features associated with prognosis., Design: Retrospective, noncomparative case series., Participants: All patients with PFV examined at the Bascom Palmer Eye Institute from January 1, 1983 through December 31, 1998., Intervention: All patients in the study had unilateral PFV. Of 42 PFV patients identified, 30 patients underwent vitreoretinal surgery. Indications for surgery included media opacity (e.g., cataract), vitreoretinal traction, and retinal detachment., Main Outcome Measures: Final best postoperative visual acuity, prognostic ocular clinical features, and surgical complications., Results: In the surgical group of patients, median age at diagnosis was 8 weeks, and median length of follow-up was 32 months, with all patients having at least 1 year of follow-up. Two patients had clinical and echographic findings consistent with anterior PFV, 2 patients had strictly posterior PFV, and the remaining 26 patients had components of both anterior and posterior PFV. Fourteen eyes (47%) achieved a final visual acuity of 20/400 or better at last follow-up. Risk factors for a poor visual acuity outcome (<20/400) included microphthalmia (28% of patients with microphthalmia versus 67% of patients with normal axial length achieved a final vision of 20/400 or better; P = 0.061) and preoperative retinal detachment or retinal or optic nerve abnormalities, or both, such as hypoplasia, folds, or indistinct macula with hypopigmentation (25% of patients with any of these anomalies versus 61 % of patients without these findings achieved a final vision of 20/400 or better; P = 0.072). After surgery, retinal detachment developed in three eyes, chronic hypotony in two other eyes, and neovascular glaucoma in one eye. In the nonsurgical group there were 6 male and 6 female patients. Two patients with posterior PFV had minimal disease and were not considered surgical candidates, whereas 10 patients with combined anterior and posterior PFV had advanced pathologic features, and it was believed that surgery would not offer significant visual improvement; median age at diagnosis was 9.5 months, and median length of follow-up was 36 months, with all patients having at least 1 year of follow-up. At last follow-up, 3 eyes (25%) had a final visual acuity of 20/400 or better. During follow-up, retinal detachment developed in 2 eyes and chronic hypotony in an additional 2 eyes., Conclusions: The current study indicates that approximately 50% of patients undergoing surgery for PFV will achieve useful vision. Visual acuity outcomes in patients with PFV are correlated with the nature and extent of ocular risk factors. Some patients may not be candidates for surgery because of either minimal changes or advanced disease that limit the potential of visual improvement.

A 5-wk-old female dromedary camel (Camelus dromedarius) was clinically diagnosed with bilateral corneal dermoids, incomplete congenital cataracts, a left persistent hyaloid artery (PHA), and a ventricular septal defect (VSD). The corneal dermoids were removed by lamellar keratectomy, and vision improved in the left eye. Thirteen months after dermoid surgery, the calf was presented for enlargement of the right eye. Glaucoma was confirmed in the right eye, and corneal fibrosis and cataract were noted in the left eye. Persistence of the VSD was confirmed by cardiac ultrasonography. The calf was euthanized, and necropsy findings confirmed VSD. Histopathologic examination revealed bilateral corneal thinning and fibrosis, cataracts with retrolental fibroplasia, and retinal dysplasia. Additional changes in the right globe were anterior segment dysgenesis, ruptured lens capsule, chronic phacoclastic uveitis, and retinal separation. The PHA was confirmed in the left eye.

Purpose: To evaluate the surgical success of patients with persistent hyperplastic primary vitreous (PHPV) and to identify preoperative indicators of visual outcome., Design: Noncomparative case series., Methods: The diagnosis of PHPV was made in 35 eyes of 27 patients from 1982 to 1994. In each case, anterior and/or posterior PHPV findings, preoperative testing, surgical procedures, and visual outcomes were documented. Twenty-nine of 35 eyes were managed surgically. Follow-up ranged from 2 months to 12 years., Results: Of the 35 eyes, 2 (5.7%) had strictly anterior PHPV, 8 (22.9%) had strictly posterior PHPV, and 25 (71.4%) had components of both anterior and posterior disease. Initial lensectomy and vitrectomy was performed in 24 eyes (68.6%). Surgery was withheld in four eyes secondary to severity of disease with an unrecordable visual-evoked potential (VEP). Reoperation rate was 32.3% for membrane reproliferation, glaucoma, vitreous hemorrhage, retinal detachment, or strabismus. Best-corrected final visual acuity ranged from 20/60 to no light perception. Six eyes (17%) maintained Snellen visual acuity despite posterior PHPV with some degree of retinal dysplasia., Conclusions: Surgical treatment of PHPV can result in functional visual outcome despite posterior segment involvement. The degree of ocular malformation, however, will ultimately limit the amount of visual improvement. Preoperative testing, including VEP, may aid in determining surgical candidates.

Objective: To determine the visual outcome after surgery for persistent hyperplastic primary vitreous using modern vitreoretinal techniques., Design: Retrospective medical record review during a 5-year period (June 1992 to June 1997). Information recorded for each patient included age, medical history, sex, results of preoperative ocular examination, age at diagnosis, procedure performed, intraoperative and postoperative complications, location and number of sclerotomy sites, type of aphakic rehabilitation, amblyopic therapy given, final visual acuity, and length of follow-up., Results: Fourteen patients who underwent surgical management of combined anterior and posterior persistent hyperplastic primary vitreous were identified. Eleven patients underwent aphakic rehabilitation and aggressive amblyopic therapy consisting of occlusive therapy for several waking hours each day. One additional older patient received aphakic rehabilitation only. Ten eyes (71%) achieved a visual acuity of 20/300 or better, and 8 (57%) obtained a final visual acuity of 20/100 or better. Average length of follow-up was 22 months (range, 4-57 months). Nine patients were fitted with an aphakic soft contact lens, 2 older patients had a posterior chamber intraocular lens placed at the time of vitrectomy, and 1 patient wore aphakic spectacles., Conclusions: With modern vitreoretinal techniques, aphakic rehabilitation, and aggressive amblyopic therapy, useful vision can be obtained in the majority of patients with combined anterior and posterior persistent hyperplastic primary vitreous.

Ultrasonography was performed on a Basset hound and a Doberman clinically suspected of persistent hyperplastic tunica vasculosa lentis/persistent hyperplastic primary vitreous. In both dogs, hyperechoic lenses with a triangular-shaped echodense structure retrolentally were visible, and a very thin hyperechoic strand was seen penetrating the anechoic vitreous from this retrolental tissue to the area of the optic nerve. Using color Doppler imaging, blood flow was evident in parts of the retina in both dogs. With power Doppler imaging there was blood flow in the lens and hyperechoic strand of the Basset hound on the first examination; whereas, on re-examination 5 months later, this was not found. Other abnormalities, such as retinal detachment, endophthalmitis, vitreous hemorrhage, microphthalmia, and posterior neoplasia could be excluded.

In order to investigate whether the p53 gene product plays a role in normal eye development, age matched p53-deficient mice and wild-type controls were sacrificed from day 2 to day 21 after birth. Eyes were paraffin-embedded and sectioned. Serial sections were taken at the level of the tunica vasculosa lentis and the hyaloid artery. The terminal dUTP nick-end labelling technique (TUNEL) was used to detect the number of cells displaying DNA fragmentation within these structures. Eyes were also prepared for scanning electron microscopy and resin embedded for semi-thin sections. Adult wild-type mice and p53-deficient mice were examined ophthalmoscopically in vivo. Ophthalmoscopical examination of mice completely deficient in p53 revealed them to be normal except for the persistence of the hyaloid vasculature, a structure that normally regresses during eye development. In adult animals there was also a high frequency of cataracts. Using morphological assessment and TUNEL we could show that in normal mice, regression of the primary vitreous, which includes the hyaloid artery, the vasa hyaloidea propria as well as the tunica vasculosa lentis, occurs via apoptotic cell death within 5 - 6 weeks after birth. The number of TUNEL-positive cells within these structures was significantly reduced in the p53-deficient mice in which parts of the hyaloid vasculature persisted and developed into a fibro-vascular retrolental plaque analogous to persistent hyperplastic primary vitreous (PHPV) described in humans. As in humans, PHPV in mice resulted in the development of cataracts. We have identified a role for p53-dependent apoptosis in the regression of the hyaloid vasculature and tunica vasculosa lentis. Our results provide further evidence for the importance of p53 in normal development and provide the first detailed evidence of its role in postnatal development in remodelling the developing eye.