Bilateral Persistent Hyperplastic Primary Vitreous:  A Close Mimic of Retinoblastoma

Abstract

Bilateral persistent hyperplastic primary vitreous (PHPV) is a rare disorder of eye. It is one of the most important differential diagnoses of retinoblastoma, hence early and accurate diagnosis is important. We here report a case of an 11-month-old child which was referred to ocular OPD with complaints of bilateral leukocoria. Examination revealed greyish-white masses posterior to both lenses, raising the clinical suspicion of retinoblastoma. Ultrasonography demonstrated echogenic masses extending from the posterior surface of the lens to the optic disc with reduced axial lengths. These masses demonstrated flow on color Doppler evaluation. CT scan revealed hyperdense masses behind the lens without any evidence of intralesional calcification. Clinical features and imaging findings point towards the diagnosis of bilateral PHPV. PHPV is a developmental disorder of the globe in which the hyaloid vasculature fails to regress normally. While unilateral PHPV is common, bilateral PHPV is a rare entity. It is one of the most important conditions mimicking retinoblastoma; hence early and accurate diagnosis is required. Ophthalmological examination is still the best way to confirm the diagnosis. However, if the diagnosis remain unclear, further evaluation using ultrasonography, Color Doppler, and CT scan is useful.

A clinicopathological study of persistent fetal vasculature

“…Incidence of bilateral PFV is < 10%. [7] All our patients were males and none had microphthalmos, not consistent with other studies. [8] PFV has never been reported and confirmed on histopathology in age as less as 2 weeks, as seen in our study.…”

Non-typical persistent hyperplastic primary vitreous: a rare case report and review of the literature

“…Clinically, the diagnosis of PHPV is usually made based on typical clinical signs and imaging manifestations. It is now accepted that the b-scan ultrasonography, color doppler ultrasound, CT, and MRI are vital for disease diagnosis, especially in eyes in which the posterior segment is not visible [ 3 , 28 ]. The b-scan ultrasound can show the stalk going from the lens to the posterior pole, moreover, the color-flow doppler can show the vascular nature of PHPV lesions [ 13 ].…”

Prenatal Ultrasound Diagnosis of Persistent Hyperplastic Primary Vitreous with Retinoblastoma

“…Retinoblastoma, the most common malignant intraocular neoplasm of childhood, is the most common cause of leukocoria, which closely resembles PHPV [3,8]. Very few studies have been conducted in in utero imaging of retinoblastoma.…”