persistent hyperplastic primary vitreous

Persistent Hyperplastic Primary Vitreous (PHPV): A Congenital Eye Disorder

Persistent Hyperplastic Primary Vitreous (PHPV), also known as Persistent Fetal Vasculature, is a rare congenital developmental malformation of the eye. It occurs when the vascular structures present during the development of the eye fail to wither or regress as they should, leading to structural abnormalities and impairment of vision.

Causes and Characteristics

• PHPV arises due to a failure of normal regression of the embryonic hyaloid vascular system (HVS) [1].
• The condition is characterized by the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery [4].
• It can be caused by genetic mutations, also known as pathogenic variants, which can be hereditary or sporadic [12].

Symptoms and Effects

• PHPV can lead to leukocoria (a white pupillary reflex), impaired vision, microphthalmia (small eye), and retinal detachment [3].
• In some cases, patients may achieve limited vision, with 18.07% of patients in one series achieving 20/200 vision or better [14].

References

[1] Context result 2: Pathology. [3] Context result 3: Persistent hyperplastic primary vitreous (PHPV) is a congenital developmental malformation of the eye due to incomplete regression of the embryonic ocular blood supply... [4] Context result 4: Description. Persistent hyperplastic primary vitreous (PHPV) is a developmental malformation of the eye due to the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. [12] Context result 12: Description. Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. [14] Context result 14: While the great majority of patients with persistent hyperplastic primary vitreous never obtain useful vision, it is encouraging that 18.07% of all the patients in this series did achieve 20/200 vision or better (Table V).

Common Signs and Symptoms of Persistent Hyperplastic Primary Vitreous (PHPV)

Persistent Hyperplastic Primary Vitreous (PHPV) is a rare eye disorder that can cause various signs and symptoms. Some of the common ones include:

• Strabismus: A condition where the eyes do not align properly, causing one eye to turn inward or outward [1].
• Leukocoria: A white reflex in the pupil, which can be a sign of an underlying eye problem [2].
• Poor vision: In many cases, PHPV is associated with poor vision in the affected eye, especially if it's unilateral [7].
• Microphthalmos: A condition where one or both eyes are smaller than normal [3].
• Cataract: A cloudy lens that can affect vision [1].
• Eye crossing or drifting: In some cases, PHPV can cause the eye to cross or drift, which can be a sign of strabismus [1].

These symptoms can vary in severity and may not always be present. If you suspect someone has PHPV, it's essential to consult an eye care professional for proper diagnosis and treatment.

References: [1] Context result 1 [2] Context result 2 [3] Context result 2 [7] Context result 7

Diagnostic Testing for Persistent Hyperplastic Primary Vitreous (PHPV)

Persistent Hyperplastic Primary Vitreous (PHPV) is a rare eye disorder that can be diagnosed through various diagnostic tests. Here are some of the common methods used to diagnose PHPV:

• Ultrasonography: This non-invasive test uses high-frequency sound waves to create images of the eye and surrounding tissues. It can help confirm the diagnosis of PHPV by showing the presence of a persistent fetal vascular remnant [7].
• Computed Tomography (CT) Scan: A CT scan can be used to visualize the eye and surrounding structures, helping to confirm the diagnosis of PHPV [4].
• Magnetic Resonance Imaging (MRI): MRI scans can also be used to diagnose PHPV by showing the presence of a persistent fetal vascular remnant [5].
• Direct Visualization: The most common means for diagnosing PHPV is through direct visualization of the persistent vascular remnant using an ophthalmoscope or other visual examination tools [7].

It's essential to note that the diagnosis of PHPV can be challenging, and a combination of these diagnostic tests may be necessary to confirm the condition.

References:

• [3] Diagnostic testing​​ The most important disease to rule out when a child presents with leukocoria is retinoblastoma (a rare malignant tumor of the retina). ...
• [5] by E Katorza · 2008 · Cited by 34 — Postnatal diagnosis of PHPV is usually confirmed by high-frequency ultrasonography8, computed tomography or magnetic resonance imaging9 after ...
• [7] Feb 5, 2015 — The most common means for diagnosis is direct visualization of the persistent vascular remnant. Ultrasonography can be extremely useful to aid ...

Treatment Options for Persistent Hyperplastic Primary Vitreous (PHPV)

Persistent hyperplastic primary vitreous (PHPV) is a rare congenital eye disorder that can cause vision problems and other complications. While surgery is often the mainstay of treatment, there are some cases where drug treatment may be considered.

Medical Management

In some cases, PHPV may be managed medically, especially in patients who are not good candidates for surgery or have mild symptoms [1]. The goal of medical management is to control symptoms and prevent complications. This can involve the use of medications such as corticosteroids, antibiotics, and anti-inflammatory agents.

Surgical Intervention

However, most cases of PHPV require surgical intervention to improve vision and prevent further complications [2]. Surgery typically involves removing the lens and vitreous gel from the eye, followed by a procedure to remove any remaining vitreous or membrane. This can be done through various techniques, including lensectomy-membranectomy.

Recent Studies

Recent studies have shown that early surgical intervention with vitrectomy is beneficial in improving intraocular anatomy and reducing complications [3]. In fact, one study found that surgery resulted in improved vision and reduced the need for further treatment in patients with PHPV [4].

Postoperative Care

After surgery, it's essential to manage the eye on a higher frequency of topical steroids, along with cycloplegics and antibiotics, to prevent complications and promote healing [5]. Residual refractive error can also be addressed through additional treatments.

In summary, while drug treatment may be considered in some cases of PHPV, surgical intervention is often necessary to improve vision and prevent further complications. Recent studies have shown the benefits of early surgical intervention with vitrectomy.

References:

[1] ZF Pollard (1985) - Cited by 30 [2] L Li (2017) - Cited by 28 [3] Context result 3 [4] Context result 9 [5] Context result 3

Differential Diagnosis of Persistent Hyperplastic Primary Vitreous (PHPV)

Persistent hyperplastic primary vitreous (PHPV) is a congenital anomaly of the eye that can be challenging to diagnose, as it shares similar symptoms with other conditions. The differential diagnosis for PHPV includes:

• Retinoblastoma: A malignant tumor of the retina that can cause leukocoria (white reflex in the pupil).
• Congenital cataract: A clouding of the lens in the eye that can cause vision problems.
• Coat's disease: A rare eye disorder characterized by abnormal blood vessels on the retina, leading to retinal detachment and vision loss.
• Astrocytic hamartomas: Non-cancerous tumors of the retina that can cause vision problems.
• Retinopathy of prematurity (ROP): A condition that affects premature infants, causing abnormal blood vessel growth in the retina.

These conditions can be difficult to distinguish from PHPV, especially in the early stages. However, a thorough examination and imaging studies such as ultrasound, CT, or MRI can help differentiate between these conditions [4][5].

Key Features for Differential Diagnosis

• Leukocoria: A white reflex in the pupil is a common feature of all these conditions.
• Microphthalmia: Small eye size is often associated with PHPV and ROP.
• Cataract: Congenital cataract can cause similar symptoms to PHPV.
• Retinal detachment: Coat's disease and retinoblastoma can cause retinal detachment, which is not typically seen in PHPV.

References

[4] Galhotra, R. (2012). Typical imaging features of ultrasound, CT, and MRI can be helpful in the diagnosis and are important in differentiating this entity from the retinoblastoma. [5] Esmer, A. C. (2016). Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, ... [10] Persistent Fetal Vasculature (PFV), previously known as Persistent Hyperplastic Primary Vitreous (PHPV), is a failure of the regression of a component of fetal vessels within the eye. ... Other causes of leukocoria are most commonly congenital cataract or Coats’ Disease, but PHPV must be differentiated from these conditions. [11] Persistent hyperplastic primary vitreous (PHPV) is a congenital anomaly of the eye in which there is failure of regression of the fetal primary vitreous and hyaloid vasculature. ... Differential Diagnosis. PHPV must be differentiated from other causes of leukocoria such as congenital cataract, retinoblastoma, Coat’s disease, toxocariasis ... [12] Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV) is a constellation of ophthalmic findings typically consisting of microphthalmia, cataract (Figs. 8.1 and 8.2), centrally dragged ciliary processes, retrolental fibrous tissue, and a persistent hyaloid artery.It has long been recognized in the differential diagnosis of leukokoria or amaurotic ...