The female carriers are otherwise asymptomatic and classically have normal renal and neurologic function. DNA diagnosis is the most accurate method to identify carriers of Lowe syndrome when the mutation in the family is known. 5-phosphatase that is deficient in OCRS patients. To date, more than 50 different mutations have been identified, with most of them being private mutations restricted to one family. A common mutation in the OCRS gene has not been identified among OCRS patients.
Acid phosphatase is elevated in most patients.
Mild ventriculomegaly is evident in about one third of patients. Additionally, in a periventricular and centrum semiovale distribution, increased signal intensity may occur on T2-weighted scans. These areas correspond to cysts of variable size and number and are yet of no known clinical significance. Renal histology usually is normal in utero and in neonates. However, within the first few months of life, these infants may show tubular abnormalities with dilation, atrophy, and accumulation of proteinaceous material in the tubule lumens.