Persistent Hyperplastic Primary Vitreous
Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), 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 (persistent tunica vasculosa lentis and persistent posterior fetal fibrovascular sheath of the lens), purely posterior (falciform retinal septum and ablatio falcicormis congenita) 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
- Trisomy 13 (Patau syndrome)
- Norrie disease
- Walker-Warburg syndrome
- Autosomal dominant
- Autosomal recessive
Diagnosis
Causes a 'white reflex' in the affected eye (leukocoria), prompting further investigation.
Treatment
Pars plana lensectomy with or without vitrectomy and trabeculectomy.
See also
- Persistent tunica vasculosa lentis