Am J Ophthalmol 1999 Apr;127(4):469-71 Related Articles, Links
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Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous.

Chang-Godinich A, Paysse EA, Coats DK, Holz ER.

Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Texas Children’s Hospital, Houston 77030, USA.

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.

PMID: 10218708 [PubMed – indexed for MEDLINE]


Am J Med Genet 1997 Oct 17;72(2):242-4 Related Articles, Links
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Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.

Torrente I, Mangino M, Gennarelli M, Novelli G, Giannotti A, Vadala P, Dallapiccola B.

Publication Types:
  • Letter

PMID: 9382152 [PubMed – indexed for MEDLINE]