Persistent hyperplastic primary vitreous
|Persistent hyperplastic primary vitreous|
|Other names: Congenital retinal detachment, Non-syndromic congenital retinal non-attachment|
|Falciform fold of detached dysplastic retina encircles the persistent hyaloid artery that extends from the optic nerve head to the retrolental mass.|
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 and signs
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.
- Trisomy 13 (Patau syndrome)
- Norrie disease
- Walker-Warburg syndrome
- Autosomal dominant
- Autosomal recessive
Causes a 'white reflex' in the affected eye (leukocoria), prompting further investigation.
Pars plana lensectomy with or without vitrectomy and trabeculectomy.
- ↑ 1.0 1.1 Silbert, Mira; Gunvood, Andrew S. (2000). "Clinical review, Persistent hyperplastic primary vitreous". Clinical Eye and Vision Care. Ireland: Elsevier Science Ireland Ltd. 12 (3–4): 131–137. doi:10.1016/S0953-4431(00)00054-0. PMID 11137427.
- ↑ Young, Jane. "Persistent Hyperplastic Primary Vitreous". Archived from the original on 2017-12-12. Retrieved 2009-05-11.
- ↑ "Persistent Hyperplastic Primary Vitreous (PHPV)". www.ssc.education.ed.ac.uk. Archived from the original on 2018-10-05. Retrieved 2016-09-19.
- GeneReviews/NIH/NCBI/UW entry on NDP-Related Retinopathies Archived 2010-06-02 at the Wayback Machine