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Lowe syndrome
How is it diagnosed?
Reduction of a specific enzyme is known to be involved in Lowe syndrome so diagnosis is made by demonstrating the loss of function of this enzyme and can be carried out by a laboratory test. At present, carrier status can be determined clinically by family history and/or, in most cases, upon careful examination of the lenses of the eye for minor, but nonetheless characteristic, abnormalities. Direct detection of the carrier state can be accomplished in some families by testing the DNA itself. The enzyme test in skin samples is not useful for determining the carrier state.
What are the causes?
| How is it treated? 
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