Persistant hyperplastic primary vitreous (PHPV) is associated with which of the following?
Correct Answer: Patau syndrome
Description: Trisomy 13 (Patau Syndrome) -- associated with microphthalmia and varying degrees of incomplete development of forebrain, olfactory and ophthalmic structures. Persistent hyperplastic primary vitreous is an impoant cause of congenital leukocoria, It typically occurs in a microphthalmic eye and is almost always unilateral. It is characterized by a retrolental mass into which elongated ciliary processes are inseed. With time the mass contracts and pulls the ciliary processes centrally so that they become visible through the pupil. An associated dehiscence involving the posterior capsule may lead to subsequent cataract formation. Ultrasonography and computed tomography are helpful in diagnosing this condition. If diagnosed at an early stage it may be possible to aspirate the lens followed by excision of the retrolental membrane and a vitrectomy. Visual prognosis is poor.
Category:
Ophthalmology
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