Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous

Am J Ophthalmol. 1999 Apr;127(4):469-71. doi: 10.1016/s0002-9394(99)00003-3.

Abstract

Purpose: To report an unusual case of familial exudative vitreoretinopathy in an infant.

Methods: Case report. A 6-day-old girl had unilateral microphthalmia in the right eye, with a retrolental plaque initially diagnosed as persistent hyperplastic primary vitreous. Three months later, peripheral retinal vascular changes and a fibrovascular ridge were noted in the left eye, suggesting familial exudative vitreoretinopathy as the cause in both eyes.

Results: The microphthalmic right eye was unsalvageable. The left eye developed an exudative retinal detachment despite photocoagulation of the peripheral avascular retina. Additional cryotherapy resulted in resolution of the detachment and regression of the vascular changes.

Conclusions: With highly asymmetric involvement, neonatal familial exudative vitreoretinopathy can mimic persistent hyperplastic primary vitreous. Fellow eye involvement can progress rapidly.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cryotherapy
  • Diagnosis, Differential
  • Exudates and Transudates
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics
  • Female
  • Fundus Oculi
  • Humans
  • Hyperplasia
  • Infant, Newborn
  • Laser Coagulation
  • Microphthalmos / complications
  • Microphthalmos / diagnostic imaging
  • Retinal Detachment / surgery
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / genetics
  • Retinal Diseases / surgery
  • Ultrasonography
  • Vitreous Body / pathology*