Persistent hyperplastic primary vitreous


Persistent hyperplastic primary vitreous, also known as persistent fetal vasculature, is a rare congenital developmental anomaly of the eye that results following failure of the embryological, primary vitreous and hyaloid vasculature to regress. It can be present in three forms: purely anterior, purely posterior and a combination of both. Most examples of PHPV are unilateral and non-hereditary. When bilateral, PHPV may follow an autosomal recessive or autosomal dominant inheritance pattern.

Symptoms

The primary vitreous used in formation of the eye during fetal development remains in the eye upon birth and is hazy and scarred. The symptoms are leukocoria, strabismus, nystagmus and blurred vision, blindness.

Causes

  1. Trisomy 13
  2. Norrie disease
  3. Walker-Warburg syndrome
  4. Autosomal dominant
  5. Autosomal recessive

    Diagnosis

Causes a 'white reflex' in the affected eye, prompting further investigation.

Treatment

Pars plana lensectomy and vitrectomy