Initially, a newly diagnosed individual should have assessments by a primary care physician, ophthalmologist, dermatologist, and cardiologist.
PXE is inherited as an autosomal recessive disorder. This means that both copies of the gene for PXE must have a mutation in order for a person to have signs and symptoms of PXE. A person with a mutation for PXE on only one gene is called a carrier. A carrier doesn't usually have PXE since the working gene still performs its function.
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This is an exciting time for PXE research. The gene associated with PXE has been identified and a genetic test for PXE is available.
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We cannot recommend a doctor who is familiar with PXE unless you are looking for an ophthalmologist or dermatologist.