Persistent Fetal Vasculature (PFV) is a crucial eye condition that can affect your child's vision. Our dedicated retina specialists are specially trained to assess and manage PFV to ensure your child receives optimal care. Explore how we can help today!
This page provides detailed insights into Persistent Fetal Vasculature (PFV), a developmental anomaly affecting the eye’s vascular regression. Explore its definition, classifications, diagnostic processes, treatment approaches, and long-term outcomes.
Persistent Fetal Vasculature (PFV), formerly known as Persistent Hyperplastic Primary Vitreous (PHPV), is a developmental anomaly that occurs when a network of fetal blood vessels in the eye fails to regress. This condition is important as it can be a major cause of leukocoria (a white reflection from the pupil) in infants, and it may lead to amblyopia and other visual disabilities in children. Although PFV itself does not worsen over time, the natural growth of the eye can lead to tractional changes that may result in complications later in life.
PFV is a condition in which components of the fetal vasculature remain intact instead of regressing, as they normally should before birth. Two key parts of this system are involved: the hyaloid system and the tunica vasculosa lentis. The hyaloid system includes a vessel that extends from the optic nerve to the posterior of the lens, along with additional vascular networks filling the vitreous cavity. On the other hand, the tunica vasculosa lentis is a capillary network that covers the lens surface and is crucial for proper lens development. When these vessels do not regress, the eye’s anatomy is altered, posing a risk for complications such as cataracts, glaucoma, retinal detachments, and even phthisis, which affects both vision and the cosmetic appearance of the eye.
During normal fetal development, the eye depends on a specialized network of vessels that nourish the lens before the aqueous humor is produced and the anterior chamber is formed. This vessel network is designed to disappear naturally by the later stages of pregnancy, generally between 28 to 30 weeks of gestational age. However, in a small percentage of cases, these vessels remain. Research suggests that this persistence is more common in premature infants but can also be seen in full-term babies. Despite extensive research, no single gene has been pinpointed as the major culprit, though some genetic factors may play a role, particularly in bilateral cases or when PFV is associated with other systemic conditions.
PFV can present in different ways, and understanding these presentations is crucial for correct management. There are two main categories:
This form is primarily characterized by changes in the tunica vasculosa lentis. It typically includes a retrolental opacity (a cloudy area behind the lens), an elongated ciliary process, or even cataract formation. In addition, membranes forming on the anterior vitreous face can lead to traction on the peripheral retina. Other features include a shallow anterior chamber, poor pupil dilation, and microphthalmia (an abnormally small eye).
In this type, the persistent fetal vessels mainly affect the hyaloid system. A distinctive feature is a stalk of tissue that extends from the optic nerve to the retrolental area, which may elevate the vitreous membrane from the optic nerve. Other signs of posterior involvement can include retinal folds, retinal dysplasia, or even retinal detachment, and a degree of optic nerve dysplasia.
It is also common for children to have a combination of anterior and posterior PFV, but differentiating between these influences the prognosis and choice of treatment.
PFV begins with a failure in the natural process of vessel regression that happens during the later stages of fetal development. Under normal circumstances, precise regulation of genes and growth factors ensures that the vascular networks serving the developing lens properly recede. Essential factors such as specific signaling proteins, like Wnt7b in hyalocytes, and growth regulators (including Angiopoietin 2, p53, and others) are responsible for initiating apoptosis (cell death) in these vessels. When these regulatory mechanisms fail or are disrupted—even if only in a subset of cells—the vessels persist, leading to the various manifestations of PFV.
This process is very delicate, and even slight imbalances in vascular growth factors can lead to dramatic outcomes. Many of the factors implicated in the process of PFV have been observed in experimental models, which, although not yet fully translated into human cases, shed light on the complexity of this condition. The fact that PFV does not typically worsen functionally over time but may lead to complications later due to normal eye growth emphasizes the importance of early detection and management.
While some forms of PFV can be inherited in an autosomal dominant or recessive manner, most cases occur sporadically without a clear genetic pattern. In instances where PFV is bilateral, extra caution is recommended to evaluate for associated systemic conditions. Conditions like Norrie disease, and other central nervous system complications or infections, may present alongside PFV, which may suggest a genetic predisposition.
Recent discussions in the research community have highlighted genes such as ATOH7 and NDP as potential players in the pathogenesis of PFV, though no single gene has been conclusively linked to the majority of cases. This multifaceted genetic scenario means that while family history is considered, many children with PFV do not have a well-defined genetic background influencing the condition. Understanding this can help reassure parents that, while genetic testing may be pursued in bilateral cases, a single clear cause isn’t always identifiable.
PFV most commonly presents shortly after birth, usually within the first two weeks, and its hallmark sign is leukocoria, or the appearance of a white pupil in the affected eye. This is sometimes accompanied by microphthalmia or a cataract, creating noticeable differences between the two eyes in an infant. Here are some typical symptoms that our retina specialists look for:
The most common clinical sign, arising from a variety of underlying issues such as a complete pupillary membrane or cataract formation.
A smaller than normal eye, often associated with PFV.
Clouding of the lens, which can significantly hinder normal vision development.
A cloudiness behind the lens caused by persistent vascular tissue.
Additionally, children with anterior PFV may exhibit structural changes such as abnormally drawn-in ciliary processes, a shallow anterior chamber, or even intraocular hemorrhages. In cases of the posterior form, a fibrous stalk might extend from the optic nerve to the back of the lens, sometimes leading to retinal folds or detachment. Recognizing these signs early is crucial because timely intervention can help minimize the risk of future complications.
When an infant presents with leukocoria or other concerning signs of PFV, our retina specialists perform thorough examinations to confirm the diagnosis. Because the condition can mimic other serious eye disorders—especially retinoblastoma, the most common intraocular malignancy in children—imaging studies play a critical role. Here’s an overview of the diagnostic process:
A detailed eye examination is the first step. The presence of persistent vascular components is assessed by carefully inspecting the eye.
This imaging modality helps to evaluate intraocular masses, detect fibrovascular stalks, assess for microphthalmia, and, importantly, identify if there is any calcification—a feature that tends to favor a diagnosis of retinoblastoma rather than PFV.
When enhanced with contrast, CT scans may highlight abnormal tissues. However, because radiation exposure carries risks for infants, careful consideration is given, and CT may be avoided if possible.
An MRI provides high-quality images without the risk of radiation, offering details about the retrolental mass, microphthalmia, and even vitreous hemorrhage.
This technique is useful to reveal abnormal blood vessel patterns, including the brittle star configuration and any non-perfusion areas in the peripheral retina.
These investigations not only establish the diagnosis of PFV but also help differentiate it from other conditions such as retinoblastoma. For example, the absence of calcification on imaging strongly supports PFV over the malignant retinoblastoma, where calcification is seen in the vast majority of cases. It is vital to perform a comprehensive evaluation, especially if the fellow eye needs to be assessed, to rule out any additional disorders.
One of the most critical challenges in diagnosing PFV is differentiating it from other causes of leukocoria. The leading concern in many cases is retinoblastoma—a malignant tumor that can be life-threatening if not treated promptly. Here’s how PFV differs from other causes of leukocoria:
PFV usually presents in a microphthalmic eye, whereas retinoblastoma typically occurs in eyes of normal size. The absence of calcification on imaging is also a key factor that can help distinguish PFV from retinoblastoma.
While congenital cataracts can also cause a white pupil, they lack the fibrovascular components and the associated structural changes seen in PFV.
Coats’ Disease involves abnormal retinal blood vessels that can lead to exudation and retinal detachment; however, the overall clinical picture and imaging findings are distinct from those seen in PFV.
Conditions such as astrocytic hamartomas, uveitis, toxocariasis, and even retinopathy of prematurity may be part of the differential diagnosis. In cases where the entire retina is detached with evidence of retrolental fibrous tissue, other conditions like familial exudative vitreoretinopathy must also be considered.
Accurately distinguishing between these conditions is essential because the treatment and prognosis for each can vary significantly. Our retina specialists use a combination of detailed patient history, clinical examination, and multiple imaging modalities to make an informed diagnosis and determine the best course of action.
The approach to managing PFV depends on the extent of the condition and the involvement of various ocular structures. While PFV itself does not worsen over time, its secondary effects on vision and eye structure can be significant. Here’s what you need to know about treatment and management:
Surgery is often required to remove media opacities that block light from reaching the retina. In cases of anterior PFV, procedures may include a lensectomy (removal of the lens), membranectomy (removal of abnormal membranes), and sometimes vitrectomy (removal of the vitreous gel). A limbal approach is commonly preferred because it can be safer for eyes that may have developmental abnormalities in the region near the retina or ora serrata.
If you suspect your child may have Persistent Fetal Vasculature (PFV), don't hesitate to reach out to our experienced team. Our specialists are dedicated to providing comprehensive evaluations and tailored treatment plans. Schedule an appointment now to ensure your child gets the best possible care for their vision health.
In addition to clearing the visual axis via surgery, treatment must manage complications such as glaucoma, intraocular hemorrhages, or retinal detachments that may occur due to traction from the persistent vessels.
Following surgery, ongoing management of refractive errors, amblyopia therapy (often involving patching the stronger eye), and close monitoring are crucial for achieving the best visual outcomes. Early surgical intervention, sometimes before 77 days of life, is associated with better chances of useful vision.
Management of PFV often involves a collaborative team approach. Pediatric eye specialists, retina experts, and glaucoma specialists work together to monitor the development of the eye and manage any complications that arise.
It is important to remember that each case of PFV is unique and requires an individualized treatment plan. Our retina specialists consider factors such as the degree of media opacity, the presence and extent of retinal involvement, and additional ocular abnormalities when developing a strategy for treatment.
One of the most significant factors in achieving a successful visual outcome in PFV is early diagnosis. By recognizing the signs of PFV—such as leukocoria, microphthalmia, and cataract formation—early intervention can help prevent complications that might otherwise lead to permanent vision loss. Screening newborns and infants for leukocoria is a vital step in ensuring that PFV is detected before secondary changes, such as intraocular hemorrhages or progressive glaucoma, can develop.
Early detection allows our retina specialists to initiate appropriate surgical treatment or observation strategies at a time when the eye’s structures are more adaptable to intervention. Studies have shown that surgery performed early in life can dramatically improve the visual prognosis, particularly in cases of anterior PFV where the retina remains largely unaffected. This reinforces the importance of parents promptly seeking evaluation if they notice any unusual signs in their child’s eyes.
The visual outcome for children with PFV depends largely on the extent of retinal involvement and whether the condition is strictly anterior, strictly posterior, or a combination of both. Generally, pure anterior PFV cases tend to have a more favorable prognosis compared to those with posterior involvement, where retinal dysplasia and folds can significantly affect vision. Even when surgery and appropriate interventions are pursued, the variability in visual outcomes can be considerable.
Another factor impacting prognosis is whether the PFV is unilateral or bilateral. Although most cases are unilateral, bilateral involvement—present in about 10% of instances—raises additional considerations, including the possibility of an underlying systemic or genetic condition. Early and aggressive treatment, combined with intensive postoperative amblyopia therapy, is key to maximizing any functional vision potential in affected children.
For families facing a diagnosis of PFV, understanding the condition and the steps involved in management can ease the anxiety that naturally accompanies such news. It is important to recognize that PFV is not a progressive disease in itself; however, untreated, it can lead to secondary ocular complications. In our practice, we emphasize clear communication, ensuring that parents understand both the challenges and the avenues available for preserving and improving vision.
Our retina specialists provide detailed explanations during consultations, discussing the role of surgery, the likelihood of needing amblyopia therapy, and the importance of regular follow-up visits. The goal is to help families set realistic expectations while offering the optimism that early and dedicated treatment can lead to meaningful visual improvements. Consistent monitoring and parental compliance with therapeutic regimens are essential components of success.
If you have noticed a white reflex in your baby’s eye or any asymmetry in eye size, it is important to consult with our retina specialists as soon as possible. While PFV is one potential explanation for these findings, appropriate imaging and a thorough evaluation are necessary to confirm the diagnosis and rule out more serious conditions such as retinoblastoma.
Remember, every minute counts when it comes to preserving visual development in infants. Early intervention can significantly reduce the risk of complications like glaucoma and retinal detachment and promote better long-term visual outcomes. Our office is ready to provide personalized guidance and support, ensuring that your child receives the most appropriate and effective care.
PFV results from the failure of the fetal vascular network, which nourishes the eye during development, to regress after birth. While genetic factors may contribute in some cases, the majority of instances are sporadic and do not follow a clear inheritance pattern.
PFV can lead to media opacities such as cataracts and affect the normal development of the eye. Depending on whether the anterior or posterior segments are involved, children may experience amblyopia, retinal detachment, or other complications that impact vision.
The primary anomaly of PFV does not progress as the child grows; however, eye growth can exacerbate secondary changes that may lead to complications later in life.
Management typically involves surgical removal of the persistent tissues, addressing any associated cataracts, and treating secondary complications like glaucoma. Intensive amblyopia therapy after surgery is critical for maximizing visual potential.
Our retina specialists rely on a combination of a detailed clinical examination and imaging studies, including ultrasonography, MRI, and sometimes CT scans, to diagnose PFV and rule out other conditions such as retinoblastoma.
Effective management of PFV extends beyond the initial treatment. Given the potential for secondary changes over time, ongoing observation and follow-up care are paramount. Our retina specialists work closely with families to monitor the affected eye's growth and development, ensuring that any emerging issues are addressed expeditiously.
Post-surgical care includes regular refraction assessments and amblyopia therapy. Because the risk of complications—such as recurrent hemorrhage or secondary glaucoma—remains, ongoing examinations are critical. In cases where additional surgical intervention is necessary, our team is well-prepared to act quickly, ensuring that the eye’s development is supported at every stage.
Follow-up visits offer the opportunity for our retina specialists to educate parents on home care and signs to watch for, helping ensure that potential problems are identified early. Continuous support and clear communication are essential aspects of long-term management, and our office is committed to walking this path together with every family we serve.
If you are preparing for an appointment regarding PFV, here are some tips to help you make the most of your visit:
Keep a record of any changes you notice in your child’s eyes, including details like color changes, differences between the eyes, or any unusual light reflections.
Be ready to provide a detailed family and prenatal history, as this information can help our retina specialists assess any potential genetic or systemic associations with PFV.
These steps not only aid our retina specialists in making a precise diagnosis but also empower you with the knowledge needed to participate actively in your child’s treatment plan.
While much has been learned about PFV, ongoing research continues to explore the intricacies of its pathophysiology and potential genetic influences. Advances in imaging technology and surgical techniques have improved the ability to diagnose and manage PFV, yet each case remains unique. The wide spectrum of clinical presentations—from purely anterior forms with relatively favorable visual outcomes to more complex cases involving the posterior segment—means that future research needs to address strategies for optimizing care regardless of the presentation.
Innovations in minimally invasive surgical techniques and improved postoperative therapies hold promise for further enhancing visual outcomes. However, current success hinges on early diagnosis and the coordinated care provided by specialized pediatric eye teams. As research deepens our understanding, our approach remains centered on individualized, compassionate care, with the central goal of supporting every child’s potential for the best possible vision.
Persistent Fetal Vasculature (PFV) is a complex condition that requires early detection, individualized treatment, and diligent follow-up. We encourage you to seek a consultation for personalized guidance tailored to your child's needs.
If you suspect your child may have Persistent Fetal Vasculature (PFV), don't hesitate to reach out to our experienced team. Our specialists are dedicated to providing comprehensive evaluations and tailored treatment plans. Schedule an appointment now to ensure your child gets the best possible care for their vision health.
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