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Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous
A Chang-Godinich1, E A Paysse, D K Coats
1Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Texas Children's Hospital, Houston 77030, USA.
Insights
Familial exudative vitreoretinopathy can mimic persistent hyperplastic primary vitreous in infants, even with asymmetric eye involvement. Prompt treatment is crucial as fellow eye involvement can progress rapidly.
Area of Science:
- Ophthalmology
- Genetics
Background:
- Familial exudative vitreoretinopathy (FEVR) is a genetic disorder affecting retinal vascular development.
- Persistent hyperplastic primary vitreous (PHPV) is a congenital condition causing visual impairment.
Observation:
- A 6-day-old infant presented with unilateral microphthalmia and a retrolental plaque, initially diagnosed as PHPV.
- The fellow eye later showed peripheral retinal vascular changes and a fibrovascular ridge, indicative of FEVR.
Findings:
- The affected right eye was unsalvageable.
- The left eye developed exudative retinal detachment, which resolved with photocoagulation and cryotherapy.
- Treatment led to regression of vascular changes in the left eye.
Implications:
- Neonatal FEVR can present with highly asymmetric ocular involvement, mimicking PHPV.
- Early diagnosis and intervention are critical for managing FEVR and preventing rapid progression in the fellow eye.
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.
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