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Persistent Hyperplastic Primary Vitreous and von Hippel‐Lindau Disease

Persistent hyperplastic primary vitreous (PHPV) is a rare benign developmental disorder of the globe in which the embryonic hyaloid artery fails to regress normally, resulting in abnormal lenticular development and secondary changes of the retina and globe, 1 The extremely varied clinical manifestations and the frequency of opaque ocular media often make the diagnosis of PHPV difficult. Although there are some reports on PHPV diagnosed in adulthood, it is mostly observed in a younger age group. 2 A vascular structure running from the lens to the optic disc and fibrovascular retrolental tissue in a microphthalmic eye is observed on imaging studies. We report the case of a young adult patient with a known history of von Hippel-Lindau (VHL) disease in whom PHPV was diagnosed incidentally on the basis of imaging studies. To our knowledge, this coincidental condition has not previously been reported. The beneficial role of color Doppler ultrasonography (CDUS) in the differential diagnosis of PHPV as opposed to other diseases has been emphasized, in addition to computed tomography (CT) and magnetic resonance (MR) findings.