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Michael Trese, Joshua Robinson, Antonio Capone, Kimberly Drenser; Wnt Signaling Mutations can Compromise Peripheral Retinal Vascular Development and Confuse the Diagnosis in Prematurely Born Infants. Invest. Ophthalmol. Vis. Sci. 2013;54(15):603. doi: https://doi.org/.
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To determine if Wnt signaling mutations as known in familial exudative vitreoretinopathy (FEVR) may play a role in the lack of peripheral retinal vascular development in older premature infants (52 weeks postmenstrual age and older) and to develop a treatment paradigm for this clinical problem
20 premature infants (24 to 32 weeks gestational age) were followed for retinopathy of prematurity (ROP) who did not develop retinal vessels to within two disc diameters of the ora serrata by 52 weeks or more postmenstrual age were studied by wide-angle fluorescein angiography (WAFA), exam under anesthesia, and genetic testing to determine if they might actually have familial exudative vitreoretinopathy (FEVR) . Those with fluorescein findings of FEVR and leakage, or positive genetic testing, were treated with peripheral laser ablation. Children with positive fluorescein angiography or positive genetic testing also had their parents tested with WAFA looking for asymptomatic peripheral retinal vascular changes of FEVR.
Four children were found to have Wnt signaling mutations and 10 additional children had fluorescein angiographic changes consistent with FEVR and leakage, but without identifiable mutations. 20 percent of parents showed findings on WAFA consistent with Wnt signaling mutations of FEVR
We have previously reported that Wnt signaling mutations can result in more severe aggressive posterior ROP, but it also appears that there may be Wnt signaling mutations that also play a role in modulating peripheral retinal vascular development as is seen in FEVR. These mutations may be an explanation for these premature infants who show a lack of peripheral retinal vascular development when being followed for ROP. This type of mutation may also explain the larger infants seen in some parts of the world with the diagnosis of ROP.
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