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Unilateral cases of persistent fetal vasculature (PFV) are sporadic,1 while bilateral cases may be associated with X linked Norrie disease.2 Associated sensorineural deafness and mental retardation in males3 may be absent,4 and genetic testing can be useful in separating sporadic PFV from Norrie disease as the following report illustrates.
A male proband (III:1, fig 1), the first child of healthy non-consanguineous white parents, was born by normal vaginal delivery, at term, following normal pregnancy and weighed 3.64 kg. Bilateral PFV was noted (fig 2) with a normal systemic examination including hearing test. During bilateral vitreo-lensectomy, severe retinal and optic nerve dysplasia was found. The four generation family history …
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