Persistent fetal vasculature

Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV), is a rare congenital eye condition that affects the development of the eye's blood vessels. It is characterized by the failure of the primary vitreous and hyaloid artery to regress during fetal development, leading to various abnormalities in the eye.

Symptoms and Presentation

The symptoms of persistent fetal vasculature can vary depending on the severity of the condition. In mild cases, there may be no noticeable symptoms, while in more severe cases, the following symptoms may be present:

- Leukocoria (white pupil): This is the most common symptom of PFV and is caused by the presence of abnormal blood vessels in the eye. Instead of the normal red reflex, a white or yellowish reflex is seen when light is shone into the eye.

- Strabismus (crossed eyes): PFV can cause misalignment of the eyes, leading to strabismus. This occurs when the muscles that control eye movement do not work together properly.

- Poor vision: The abnormal blood vessels in the eye can interfere with the normal development of the retina, leading to reduced visual acuity.

Causes and Pathophysiology

The exact cause of persistent fetal vasculature is not fully understood. It is believed to be a result of abnormal development of the eye's blood vessels during fetal development. Normally, the primary vitreous and hyaloid artery regress and disappear as the eye develops. However, in PFV, these structures persist and can cause various abnormalities in the eye.

Diagnosis

Persistent fetal vasculature is typically diagnosed during a routine eye examination in infants or young children. The characteristic leukocoria (white pupil) is often the first sign that prompts further investigation. Additional diagnostic tests may include:

- Ophthalmoscopy: This is a visual examination of the inside of the eye using a specialized instrument called an ophthalmoscope. It allows the ophthalmologist to visualize the abnormal blood vessels and other structural abnormalities.

- Ultrasound: In some cases, an ultrasound may be performed to obtain more detailed images of the eye's structures. This can help confirm the diagnosis and assess the extent of the abnormalities.

Treatment

The treatment of persistent fetal vasculature depends on the severity of the condition and the associated visual impairment. In mild cases, no treatment may be necessary, and regular monitoring of the eye's development may be sufficient.

In more severe cases, treatment options may include:

- Surgery: Surgical intervention may be required to remove the abnormal blood vessels and correct any associated structural abnormalities. This can help improve visual acuity and alignment of the eyes.

- Visual aids: In cases where vision is significantly impaired, the use of visual aids such as glasses or contact lenses may be recommended to optimize visual function.

Prognosis

The prognosis for individuals with persistent fetal vasculature can vary depending on the severity of the condition and the extent of visual impairment. In mild cases, the prognosis is generally good, with minimal long-term visual impairment.

However, in more severe cases, the prognosis may be less favorable, and individuals may experience significant visual impairment or even blindness. Early diagnosis and appropriate treatment can help improve outcomes and maximize visual function.

References

1. Goldberg MF. Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). LIV Edward Jackson Memorial Lecture. Am J Ophthalmol. 1997;124(5):587-626. doi:10.1016/s0002-9394(14)70812-1

2. Shastry BS. Persistent hyperplastic primary vitreous: congenital malformation of the eye. Clin Exp Ophthalmol. 2009;37(9):884-890. doi:10.1111/j.1442-9071.2009.02147.x