Persistent hyperplastic primary vitreous

Changed by Yaïr Glick, 6 Feb 2024
Disclosures - updated 27 Aug 2023: Nothing to disclose

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Persistent hyperplastic primary vitreous (PHPV), also known as the persistent fetal vasculature,refers to a rare congenital developmental malformation of the eye.

Clinical presentation

Clinically, this condition usually manifests as unilateral or bilateral leucocoria. Patients may also have poor vision, small eye (microphthalmia(microphthalmia) and strabismus.

Pathology

It arises due to a failure of normal regression of the embryonic hyaloid vascular system. Normally, the primary vitreous forms around the 7th week of gestation and starts involuting around 20th week and has nearly always disappeared by birth. Persistent fetal vasculature in PHPV can lead to fibrosis, resulting in elongation of the ciliary processes, retinal detachment, and spontaneous cataracts.

Subtypes

PHPV can be divided into anterior (ventral) or posterior (dorsal) types, with with most patients with PHPV having a combination of these 3.

Associations

PHPV can occur on its own or in association with various other conditions, notably when bilateral. These include 9:

Radiographic features

From an imaging standpoint, only the features of posterior PHPV are well known 3.

General

In posterior PHPV, the globe is small and can contain retinal detachments.

Ocular ultrasound

An echogenic band may be seen in the posterior segment of the globe, extending from the posterior surface of the lens to the optic nerve head. On colour Doppler, arterial blood flow may be seen within this band.

CT

The CT appearance can be quite variable 9. The described spectrum of CT findings includes 1:

  • soft-tissue replacement (infiltration) of the vitreous body

  • retrolental soft tissue along the Cloquet canal: fine fine linear structureextending from the head of the optic nerve to the posterior surface of the lens 3

  • absence of abnormal calcification within the orbit

  • microphthalmus

  • retrohyaloid layered blood

  • hypervascularity of the vitreous humour: after after contrast administration, the vitreal abnormalities may enhance, which is believed to reflect a persistent hypervascular vitreous

  • retinal detachments can be hyperdense on CT

MRI

On MRI the retrolental tissue characteristic of this condition has a triangular shape resembling a martini glass, appearing as low T2 signal against the normal high T2 signal of the globe 10.

Differential diagnosis

  • clinically, it is one of the more significant and frequent conditions that can mimic a retinoblastoma

  • at ultrasound, the primary differential is of retinal detachment, which is commonly associated with PHPV

  • -<p><strong>Persistent hyperplastic primary vitreous (PHPV)</strong>, also known as the <strong>persistent fetal vasculature, </strong>refers to a rare congenital developmental malformation of the eye.</p><h4>Clinical presentation</h4><p>Clinically, this condition usually manifests as unilateral or bilateral <a href="/articles/leukocoria">leucocoria</a>. Patients may also have poor vision, small eye (microphthalmia) and strabismus.</p><h4>Pathology</h4><p>It arises due to a failure of normal regression of the embryonic hyaloid vascular system. Normally, the primary vitreous forms around the 7<sup>th</sup> week of gestation and starts involuting around 20<sup>th</sup> week and has nearly always disappeared by birth. Persistent fetal vasculature in PHPV can lead to fibrosis, resulting in elongation of the ciliary processes, <a title="Retinal detachment" href="/articles/retinal-detachment">retinal detachment</a>, and spontaneous <a title="Infantile cataracts" href="/articles/congenital-cataract">cataracts</a>.</p><h5>Subtypes</h5><p>PHPV can be divided into anterior (ventral) or posterior (dorsal) types, with most patients with PHPV having a combination of these <sup>3</sup>.</p><h5>Associations</h5><p>PHPV can occur on its own or in association with various other conditions, notably when bilateral. These include <sup>9</sup>:</p><ul>
  • -<li><a href="/articles/norrie-disease">Norrie disease</a></li>
  • -<li><a href="/articles/warburg-syndrome">Warburg syndrome</a></li>
  • -<li><a href="/articles/retinal-dysplasia">retinal dysplasia </a></li>
  • -</ul><h4>Radiographic features</h4><p>From an imaging standpoint, only the features of posterior PHPV are well known <sup>3</sup>.</p><h5>General</h5><p>In posterior PHPV, the globe is small and can contain retinal detachments.</p><h5>Ocular ultrasound</h5><p>An echogenic band may be seen in the posterior segment of the globe, extending from the posterior surface of the lens to the optic nerve head. On colour Doppler, arterial blood flow may be seen within this band.</p><h5>CT</h5><p>The CT appearance can be quite variable <sup>9</sup>. The described spectrum of CT findings includes <sup>1</sup>:</p><ul>
  • -<li>soft-tissue replacement (infiltration) of the <a title="Vitreous body" href="/articles/vitreous-body">vitreous body</a>
  • -</li>
  • -<li>retrolental soft tissue along the <a href="/articles/cloquets-canal-1">Cloquet cana</a>l: fine linear structure<br>extending from the head of the optic nerve to the posterior surface of the lens <sup>3 </sup>
  • -</li>
  • -<li>absence of abnormal calcification within the orbit</li>
  • -<li><a href="/articles/microphthalmia">microphthalmus</a></li>
  • -<li>retrohyaloid layered blood</li>
  • -<li>hypervascularity of the vitreous humour: after contrast administration, the vitreal abnormalities may enhance, which is believed to reflect a persistent hypervascular vitreous</li>
  • -<li>retinal detachments can be hyperdense on CT</li>
  • -</ul><h5>MRI</h5><p>On MRI the retrolental tissue characteristic of this condition has a triangular shape resembling <a href="/articles/martini-glass-sign">martini glass</a>, appearing as low T2 signal against the normal high T2 signal of the globe <sup>10</sup>.</p><h4>Differential diagnosis</h4><ul>
  • -<li>clinically it is one of the more significant and frequent conditions that can mimic a <a href="/articles/retinoblastoma">retinoblastoma</a>
  • -</li>
  • -<li>at ultrasound the primary differential is of <a href="/articles/retinal-detachment">retinal detachment</a>, which is commonly associated with PHPV</li>
  • +<p><strong>Persistent hyperplastic primary vitreous (PHPV)</strong>, also known as the <strong>persistent fetal vasculature,&nbsp;</strong>refers to a rare congenital developmental malformation of the eye.</p><h4>Clinical presentation</h4><p>Clinically, this condition usually manifests as unilateral or bilateral <a href="/articles/leukocoria">leucocoria</a>. Patients may also have poor vision, small eye (<a href="/articles/microphthalmia" title="Microphthalmia">microphthalmia</a>) and <a href="/articles/investigating-strabismus-summary" title="Investigating strabismus (summary)">strabismus</a>.</p><h4>Pathology</h4><p>It arises due to a failure of normal regression of the embryonic hyaloid vascular system. Normally, the primary vitreous forms around the 7<sup>th</sup> week of gestation and starts involuting around 20<sup>th</sup> week and has nearly always disappeared by birth. Persistent fetal vasculature in PHPV can lead to fibrosis, resulting in elongation of the ciliary processes, <a href="/articles/retinal-detachment" title="Retinal detachment">retinal detachment</a>, and spontaneous <a href="/articles/congenital-cataract" title="Infantile cataracts">cataracts</a>.</p><h5>Subtypes</h5><p>PHPV can be divided into anterior (ventral) or posterior (dorsal) types,&nbsp;with most patients with PHPV having a combination of these <sup>3</sup>.</p><h5>Associations</h5><p>PHPV can occur on its own or in association with various other conditions, notably when bilateral. These include <sup>9</sup>:</p><ul>
  • +<li><p><a href="/articles/norrie-disease">Norrie disease</a></p></li>
  • +<li><p><a href="/articles/warburg-syndrome">Warburg syndrome</a></p></li>
  • +<li><p><a href="/articles/retinal-dysplasia">retinal dysplasia</a></p></li>
  • +</ul><h4>Radiographic features</h4><p>From an imaging standpoint, only the features of posterior PHPV are well known <sup>3</sup>.</p><h5>General</h5><p>In posterior PHPV, the globe is small and can contain <a href="/articles/retinal-detachment" title="Retinal detachments">retinal detachments</a>.</p><h5>Ocular ultrasound</h5><p>An echogenic band may be seen in the posterior segment of the <a href="/articles/ocular-globe-1" title="Ocular globe">globe</a>, extending from the posterior surface of the <a href="/articles/crystalline-lens" title="lens">lens</a> to the <a href="/articles/optic-nerve" title="Optic nerve">optic nerve</a> head. On colour Doppler, arterial blood flow may be seen within this band.</p><h5>CT</h5><p>The CT appearance can be quite variable <sup>9</sup>. The described spectrum of CT findings includes <sup>1</sup>:</p><ul>
  • +<li><p>soft-tissue replacement (infiltration) of the <a href="/articles/vitreous-body" title="Vitreous body">vitreous body</a></p></li>
  • +<li><p>retrolental soft tissue along the <a href="/articles/cloquets-canal-1">Cloquet cana</a>l:&nbsp;fine linear structure<br>extending from the head of the optic nerve to the posterior surface of the lens <sup>3</sup></p></li>
  • +<li><p>absence of abnormal calcification within the orbit</p></li>
  • +<li><p><a href="/articles/microphthalmia">microphthalmus</a></p></li>
  • +<li><p>retrohyaloid layered blood</p></li>
  • +<li><p>hypervascularity of the vitreous humour:&nbsp;after contrast administration, the vitreal abnormalities may enhance, which is believed to reflect a persistent hypervascular vitreous</p></li>
  • +<li><p>retinal detachments can be hyperdense on CT</p></li>
  • +</ul><h5>MRI</h5><p>On MRI the retrolental tissue characteristic of this condition has a triangular shape resembling a <a href="/articles/martini-glass-sign">martini glass</a>, appearing as low T2 signal against the normal high T2 signal of the globe <sup>10</sup>.</p><h4>Differential diagnosis</h4><ul>
  • +<li><p>clinically, it is one of the more significant and frequent conditions that can mimic a <a href="/articles/retinoblastoma">retinoblastoma</a></p></li>
  • +<li><p>at ultrasound, the primary differential is of <a href="/articles/retinal-detachment">retinal detachment</a>, which is commonly associated with PHPV</p></li>

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