Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous.
OBJECTIVE
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.
Chang-Godinich
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A
Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Texas Children's Hospital, Houston 77030, USA.
Paysse
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EA
Coats
D K
DK
Holz
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ER
D017679:Cryotherapy; D003937:Diagnosis, Differential; D005122:Exudates and Transudates; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D006965:Hyperplasia; D007231:Infant, Newborn; D017075:Laser Coagulation; D008850:Microphthalmos / Q000150:complications / Q000000981:diagnostic imaging; D012163:Retinal Detachment / Q000601:surgery; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D014463:Ultrasonography; D014822:Vitreous Body / Q000473:pathology*