1/15/2008 Case 2: Changes related to persistent vetrious blood vessels

Presented by: Dr. Rao - University Hospital SUNY HSCB

Clinical History:

Case of a 4 year old female with leukocoria in the right eye, which was enucleated because of suspicion of retinoblastoma.   The section showed an eye that was minimally small in size.  There was subcapsular globular degeneration of the lens, calcification of the lens, crenation of the posterior capsule with retrolental fibrosis, and retinal detachment with retina that is in the wrong location (in front of the vitreous).  The optic nerve is very small and there was osseous metaplasia in front of the nerve.

Diagnostic Notes:

The differential diagnosis of leukocoria was discussed and includes retinoblastoma, medulloepithelioma, retinal astrocytoma, leukemia, persistent hyperplastic primary vitreous and other entities.  The diagnosis of the present case is persistent hyperplastic primary vitreous (Reese 1946) also called persistent fetal vasculature (Goldberg 1997).  This is a usually unilateral developmental disorder in which the embryonic hyaloid artery fails to regress.  There is exuberant fibrosis behind the lens.   Delay in diagnosis may result in no functional vision.  If microsurgery is performed, vision is restored in 18%.  This entity is associated with many other unusual entities including Walker-Warburg syndrome, intrauterine use of Clomiphen, cocaine, LSD and alcohol, Tuberous sclerosis, Von Hippel-Lindau disease, and Neurofibromatosis Type 2. 


  • PNAS 2002;19,99,6:3848-53
  • Martin AC et al.  Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the Arf tumor suppressor gene.  Invest Ophthalmol Vis Sci 2004;45(10):3387-3396.
  • Goldberg MF.  Persistent fetal vasculature (PFV):  an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV)
  • LIV Edward Jackson Memorial Lecture.  Am J Ophthalmol 1997;124:587-;626.
  • AFIP Fascicle on Tumors of the Eye and Ocular Adnexa.

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