Persistent fetal vasculature

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Persistent fetal vasculature
Other namesPersistent hyperplastic primary vitreous, congenital retinal detachment, non-syndromic congenital retinal non-attachment
Persistent hyperplastic primary vitreous.jpg
Falciform fold of detached dysplastic retina encircles the persistent hyaloid artery that extends from the optic nerve head to the retrolental mass.
Specialty Ophthalmology
Symptoms Defects including glaucoma, cataract, falciform retinal folds, funnel- or stalk-shaped retinal detachment, spontaneous fundus hemorrhage, and a congenitally small eye.
Complications Retinal detachment, blindness, and glaucoma, among other chronic diseases.
Usual onsetNeonatal, most often within 1–2 weeks of birth.
DurationPermanent.
TypesUnilateral and bilateral presentations of anterior, posterior, and combination types are possible.
CausesUnknown; genetic factors prevalent in bilateral cases.
Risk factors Premature birth.
Diagnostic method Advanced medical imaging required, symptoms of concern include strabismus, nystagmus, and amblyopia.
PreventionNone.
TreatmentSurgical intervention to preserve affected eye(s). Extensive monitoring advised.
Prognosis Varies; even if treated early, visual outcomes are often poor, though will not generally deteriorate later in life.
FrequencyUnknown.

Persistent fetal vasculature(PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), [1] is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully developed. [2] Defects which arise from this lack of vascular regression are diverse; as a result, the presentation, symptoms, and prognosis of affected patients vary widely, ranging from clinical insignificance to irreversible blindness. The underlying structural causes of PFV are considered to be relatively common, and the vast majority of cases do not warrant additional intervention. [3] When symptoms do manifest, however, they are often significant, causing detrimental and irreversible visual impairment. [4] Persistent fetal vasculature heightens the lifelong risk of glaucoma, cataracts, intraocular hemorrhages, and Retinal detachments, accounting for the visual loss of nearly 5% of the blind community in the developed world. [5] In diagnosed cases of PFV, approximately 90% of patients with a unilateral disease have associated poor vision in the affected eye. [6]

Contents

The presentation of persistent fetal vasculature is generally classified into three forms: purely anterior, purely posterior, or a mix of both. [7] Combined expressions of both classifications are by far the most common presentation, accounting for up to 62% of all cases. [8] Purely posterior presentations are often considered to be the most extreme variant and have the least successful surgical and visual outcomes. [9] The majority of PFV cases are unilateral, affecting only one eye, though roughly 2.4% to 11% of cases are bilateral, impacting both eyes. [8] Bilateral cases have generally poor visual outcomes and warrant heightened intervention regardless of presentation. They also may follow an autosomal recessive or autosomal dominant inheritance pattern, while no inheritance patterns have been conclusively identified for unilateral cases. [10]

Signs and symptoms

Persistent fetal vasculature manifests exclusively in newborn infants, generally within two weeks of birth, although it may not be diagnosed until much later. [4] Symptomatically, the presentation of PFV is traditionally marked by "cat's eye" or leukocoria (the whitening of the pupil) and cataracts. This presentation, in particular the display of leukocoria in infants, almost perfectly mimics that of retinoblastoma, a rare and severe form of retinal cancer. These two disorders are the most frequent cause of infantile leukocoria. As a result, PFV is sometimes referred to as a “benign retinoblastoma”, due to improved relative visual outcomes. [11] Symptoms which often draw caregivers to the presence of PFV include the presence of strabismus (crossed eyes), nystagmus (unusual or sporadic eye movements), or amblyopia (eyes which involuntarily drift from points of focus), though these symptoms are all indicative of visual disorders in general, and it is impossible to concretely identify PFV without advanced medical imaging. [12]

The most common cause of leukocoria is the primary vitreous used in the formation of the eye during fetal development, which in PFV remains in part or in whole within the eye upon birth, and whose tissue is hazy and scarred. [10] In unilateral cases, the abnormal eye will frequently be slightly smaller in size than the patient's unaffected eye, though this is not always the case, and the disparity gap is often reduced or erased prior to adulthood. Eye growth throughout adolescence is not generally altered by PFV, though associated conditions, in particular glaucoma, may impact this on a case-by-case basis. [13]

Among cases clinically significant enough to warrant intervention, the most common chronic symptoms are blindness and visual impairment; without treatment, up to 70% of serious cases result in blindness. [14] In virtually all cases, once damaged or lost, visual capacity cannot be restored. The precise extent and scope of this impairment is determined by diagnostic speed and the efficacy of surgical intervention, which may present different practical outcomes across otherwise identical patients, or even divergent outcomes in each eye, if the patient suffers from a bilateral expression of the disease. [8] Retinal detachment, when met with surgical intervention, can often preserve peripheral sight in the affected eye. Additionally, the structural anomalies inherent to PFV do not grow with time, which may alter visual or cosmetic prospects in the long term, as the muscles surrounding the eye react and adjust to the impairment. [15]

Genetics

Although some gene involvement has been proposed, no gene has yet been reported that can account for a substantial number of the cases of PFV. The majority of cases of PFV occur sporadically; however, some other patterns of inheritance have also been reported, such as autosomal recessive form in cases with ATOH7 gene mutation on chromosome 10q2. [16] A dominant pattern of inheritance in PFV was also described in an Egyptian family. NDP gene and COX15 gene mutations on chromosome 10 were also reported in bilateral PFV cases. [17] Apart from the aforementioned genes, the ZNF408 gene, which was previously found in autosomal recessive retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy (ADFEVR), was also described in PFV cases with microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma syndrome (MPPC syndrome). [18] FZD4 (Frizzled class receptor 4), which is a gene related to familial exudative vitreoretinopathy (FEVR), was also found to be related to some PFV cases. However, in bilateral cases of PFV with cardiovascular and central nervous system abnormalities, trisomy 13 (Patau syndrome) should be suspected and ruled out. Consultation with an ocular geneticist is recommended in cases of bilateral PFV to rule out other ocular or systemic associations, as well as for genetic counseling relative to future offspring in complex patients. [19] [20]

Causes

A limited medical understanding of how fetal vasculature evolves in-utero has largely handicapped efforts to determine foundational causes of the anomalies inherent to persistent fetal vasculature. Advances in modern imaging and DNA analysis have begun to illustrate new aspects of this broad disorder, though there is no consensus on the causality of any one factor, and multiple factors, both environmental and genetic, are likely at play. [21] Cases of Trisomy-13, Walker–Warburg syndrome, and Norrie diseases all frequently or exclusively include a PFV diagnosis. Differential diagnoses focus primarily on ruling out these disorders. [22] Additionally, as is often the case with congenital anomalies, a plausible risk factor for PFV is premature birth, though this link has not been extensively researched beyond case studies.

Diagnosis

Clear and quick diagnosis is a critical component for ensuring strong visual and cosmetic outcomes. [4] While structural elements of PFV occur in as many as 3% of all births, anomalies severe enough to warrant medical attention are very rare. Though PFV presents almost exclusively in the weeks immediately following birth, obtaining a concrete diagnosis can take months. Multiple conditions are associated with PFV or encompass aspects of its clinical presentation. Overlap between these conditions, as well as the breadth of their symptoms, and the challenges of identifying impacted patients all complicate the diagnosis. These related conditions include: [21]

Due to PFV’s close resemblance with retinoblastoma in particular, conclusively identifying PFV through advanced medical imaging is timely and crucial for an accurate diagnosis. Retinoblastoma presents with visible calcification, the presence of calcification at minimum confirms malignancy beyond the effects of PFV. [24] Both CT and MRI can also be used, although ultrasound is a perfectly viable option, and generally preferred by practitioners due to relative ease. [25]

Differential diagnosis

A differential diagnostic guide to conclusively determine PFV over disorders and anomalies of similar presentations was compiled by Dr. Olga Cerón, et al. & International Ophthalmology Clinics, pp 53–62, Spring 2008:

The differential diagnosis of PHPV includes congenital cataract, retinopathy of prematurity, Norrie disease, familial exudative vitreoretinopathy and retinoblastoma. PHPV can be distinguished from an uncomplicated congenital cataract by the presence of a fibrovascular stalk and other features such as elongated ciliary processes and a shallow anterior chamber. PHPV can be differentiated from retinopathy of prematurity by its unilateral occurrence in full-term healthy infants. Norrie disease can be differentiated from PHPV by its X-linked inheritance, associated systemic manifestations, and bilaterally. Retinoblastoma is commonly distinguished from PHPV by the lack of microphthalmia and cataract. [8] [26] [27]

Treatment

A wide range of treatments and potential outcomes exist for PFV on account of the wide spectrum of its presentation. The primary goal is visual preservation and the protection of healthy eye tissue, with cosmetic concerns as a secondary, and often long term, consideration. When diagnosed early, surgical intervention is statistically correlated with a higher probability of viable visual preservation in the impacted eye. [4] Anterior PFV is most often treated with observation, lensectomy and glaucoma management, whether medical or surgical. Posterior PFV is usually associated with a poor visual outcome regardless of intervention due to retinal and optic nerve abnormalities, though individualized surgical options are noting greater success since the 1990s. A bilateral disease is also typically associated with a poor outcome due to the high prevalence of posterior components. [28] Despite this, surgery is increasingly preferred as a treatment to both presentations, as it mitigates a number of chronic risks, and may help maintain at least subpar visual capacity. [29] In patients with a unilateral disease, “patching” is commonly prescribed as a post-operative recovery tool to maximize neurological plasticity in the ocular nerve. The healthy eye is covered with cloth or fabric, and the patient is forced to use the impacted eye for an acute duration to train visual awareness; care must be taken to avoid strain, however, which can cause discomfort or, in severe cases, atrophy. [8] The medical benefits of patching remain debated.

Cosmetic concerns with PFV patients, similar to surgical outcomes, vary considerably, and are tailored to individual needs. Prosthetic eyes are often required in the most severe cases, though not always, and later-in-life surgery is available to correct and stabilize ocular drifting if desired. [30] Surgical practices since the late 20th century have advanced considerably, increasingly allowing for the preferable preservation of functionally sightless eyes as a bulwark against chronic disease.

Prognosis

As a result of an increased risk of glaucoma and a wide array of additional diseases, patients with severe PFV will require lifelong medical monitoring, and increased consultation with specialists and occlusive therapists to ensure developmental milestones are reached, and chronic abnormalities and illnesses can be caught early and mitigated. [31] Generally, while vision cannot be restored, it can be stabilized through early intervention, and PFV alone does not directly cause any degenerative chronic disorders. After surgical intervention, physical therapy may be recommended to restore and enhance coordination and balance. [32] While individual outcomes are as diverse as PFV itself, those affected by the disease often maintain outwardly normal lives, and on account of its early presentation, many fully adapt to impairment, having not known any other form of vision. Damage to depth perception and reaction speed may impair certain capabilities, though in unilateral expressions especially, PFV will not necessarily prevent patients from driving safely, engaging in athletics, and developing advanced fine motor skills. Bilateral cases experience less adaptable visual outcomes, and additional consultation may be necessary to determine if genetic components of the disease are inheritable. [20]

Epidemiology

The statistical prevalence of clinically significant PFV remains unknown, though it is believed to be quite rare. A recent pilot study in China placed the rate of persistent hyaloid artery, a structural anomaly related to PFV, as diagnosable one week after birth in 54 of 15,398 cases (a rate of 0.351%). No further consultation was conducted, however, and the long-term outcomes of those diagnosed are unknown. [33]

History

The anomalies common to PHV were first reported by Jules Germain Cloquet in 1818, and since then the disorder has been called by various names, including: persistent posterior fetal fibrovascular sheath of the lens, persistent tunica vasculosa lentis (TVL), persistent hyperplastic vitreous (PHPV), congenital retinal septum, and ablation falciform. [34] Algernon B. Reese first described persistent hyperplastic primary vitreous (PHPV) in 1955 as a congenital malformation of the anterior portion of the primary vitreous. Due to both the hyaloid vessels and the tunica vascular lentis persisting in this condition, and the fact that “primary vitreous” refers only to the hyaloid vessels, Morton F. Goldberg introduced the term “Persistent fetal vasculature” as the condition’s new name in the 1997 Edward Jackson Memorial Lecture, stating that PHPV was a misnomer for only including those vessels that were posterior to the lens. [12] This broader nomenclature and medical definition is generally accepted as dominant in modern scholarship.

See also

Related Research Articles

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Floaters or eye floaters are sometimes visible deposits within the eye's vitreous humour, which is normally transparent, or between the vitreous and retina. They can become particularly noticeable when looking at a blank surface or an open monochromatic space, such as blue sky. Each floater can be measured by its size, shape, consistency, refractive index, and motility. They are also called muscae volitantes, or mouches volantes. The vitreous usually starts out transparent, but imperfections may gradually develop as one ages. The common type of floater, present in most people's eyes, is due to these degenerative changes of the vitreous. The perception of floaters, which may be annoying or problematic to some people, is known as myodesopsia, or, less commonly, as myodaeopsia, myiodeopsia, or myiodesopsia. It is not often treated, except in severe cases, where vitrectomy (surgery), laser vitreolysis, and medication may be effective.

<span class="mw-page-title-main">Vitreous body</span> Gel in eyeballs

The vitreous body is the clear gel that fills the space between the lens and the retina of the eyeball in humans and other vertebrates. It is often referred to as the vitreous humor or simply "the vitreous". Vitreous fluid or "liquid vitreous" is the liquid component of the vitreous gel, found after a vitreous detachment. It is not to be confused with the aqueous humor, the other fluid in the eye that is found between the cornea and lens.

<span class="mw-page-title-main">Vitrectomy</span> Surgery to remove vitreous humor from the eye

Vitrectomy is a surgery to remove some or all of the vitreous humor from the eye.

<span class="mw-page-title-main">Retinoblastoma</span> Medical condition

Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. It is the most common primary malignant intraocular cancer in children, and it is almost exclusively found in young children.

Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a disease of the eye affecting prematurely born babies generally having received neonatal intensive care, in which oxygen therapy is used because of the premature development of their lungs. It is thought to be caused by disorganized growth of retinal blood vessels and may result in scarring and retinal detachment. ROP can be mild and may resolve spontaneously, but it may lead to blindness in serious cases. Thus, all preterm babies are at risk for ROP, and very low birth-weight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of ROP.

<span class="mw-page-title-main">Phacoemulsification</span> Method of cataract surgery

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<span class="mw-page-title-main">Cataract surgery</span> Removal of opacified lens from the eye

Cataract surgery, which is also called lens replacement surgery, is the removal of the natural lens of the human eye that has developed a cataract, an opaque or cloudy area. The eye's natural lens is usually replaced with an artificial intraocular lens (IOL).

<span class="mw-page-title-main">Coloboma</span> Hole in one of the structures of the eye

A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births.

<span class="mw-page-title-main">Capsule of lens</span> Membrane surrounding the lens within the eyeball

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<span class="mw-page-title-main">Posterior vitreous detachment</span> Eye condition where vitreous membrane detaches from the retina

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Aphakia is the absence of the lens of the eye, due to surgical removal, such as in cataract surgery, a perforating wound or ulcer, or congenital anomaly. It causes a loss of ability to maintain focus (accommodation), high degree of farsightedness (hyperopia), and a deep anterior chamber. Complications include detachment of the vitreous or retina, and glaucoma.

<span class="mw-page-title-main">Ectopia lentis</span> Medical condition

Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. A partial dislocation of a lens is termed lens subluxation or subluxated lens; a complete dislocation of a lens is termed lens luxation or luxated lens.

<span class="mw-page-title-main">Leukocoria</span> Medical condition

Leukocoria is an abnormal white reflection from the retina of the eye. Leukocoria resembles eyeshine, but leukocoria can also occur in animals that lack eyeshine because their retina lacks a tapetum lucidum.

<span class="mw-page-title-main">Coats' disease</span> Human eye disease causing full or partial blindness

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<span class="mw-page-title-main">Persistent tunica vasculosa lentis</span> Medical condition

Persistent tunica vasculosa lentis is a congenital ocular anomaly. It is a form of persistent fetal vasculature (PFV).

<span class="mw-page-title-main">Optic disc drusen</span> Medical condition

Optic disc drusen (ODD) are globules of mucoproteins and mucopolysaccharides that progressively calcify in the optic disc. They are thought to be the remnants of the axonal transport system of degenerated retinal ganglion cells. ODD have also been referred to as congenitally elevated or anomalous discs, pseudopapilledema, pseudoneuritis, buried disc drusen, and disc hyaline bodies.

<span class="mw-page-title-main">Optic pit</span> Medical condition

Optic pit, optic nerve pit, or optic disc pit (ODP) is rare a congenital excavation (or regional depression) of the optic disc (also optic nerve head), resulting from a malformation during development of the eye. The incidence of ODP is 1 in 10,000 people with no predilection for either gender. There is currently no known risk factors for their development. Optic pits are important because they are associated with posterior vitreous detachments (PVD) and even serous retinal detachments.

<span class="mw-page-title-main">Serpiginous choroiditis</span> Medical condition

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References

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  2. ↑ Drack A (2005-08-11). "Book review pediatric retina: medical and surgical approaches edited by Mary Elizabeth Hartnett, Michael Trese, Antonio Capone, Jr., Bronya J.B. Keats, and Scott M. Steidl. 559 pp., illustrated. Philadelphia, Lippincott Williams & Wilkins, 2005. $249. 0-7817-4782-1". New England Journal of Medicine. 353 (6): 636–637. doi:10.1056/nejm200508113530623. ISSN   0028-4793.
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