Papillorenal syndrome primary prevention
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Primary Prevention
Treatment plans seem to be limited, as there is a large focus on the prevention of papillorenal syndrome and its implications. People with congenital optic nerve abnormalities should seek ophthalmologists regularly and use protective lenses. If abnormalities are present, a follow up with a nephrologist should be achieved to monitor renal function and blood pressure. Since the disease is believed to be caused by Pax2 mutations and is inherited in an autosomal dominant manner, family members may be at risk and relatives should be tested for possible features. About half of those diagnosed with the disease have an affected parent, so genetic counseling is recommended.
Prenatal testing is another possibility for prevention or awareness, and this can be done through molecular genetic testing or ultrasounds at later stages of pregnancy. Additionally, preimplantation genetic diagnosis (PGD) should be considered for families where papillorenal syndrome is known to be an issue.[1]