Persistent hyperplastic primary vitreous

Definition:

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. PHPV typically presents unilaterally without association with systemic findings, but sometimes PHPV may be associated with rare systemic syndromes. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait.

References:

[1]. Barkur S Shastry, et al. Persistent hyperplastic primary vitreous: congenital malformation of the eye. Clin Exp Ophthalmol. 2009 Dec;37(9):884-90. [Content Brief]

[2]. Kamron Khan, et al. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet. 2012 Feb 15;21(4):776-83. [Content Brief]

[3]. Marcia Beatriz Tartarella, et al. Persistent fetal vasculature: ocular features, management of cataract and outcomes. Arq Bras Oftalmol. 2013 May-Jun;76(3):185-8. [Content Brief]

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