Papillorenal syndrome primary prevention
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]
Overview
Treatment plans for Renal-coloboma syndrome 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
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.
It is recommended that subjects who have been diagnosed with the syndrome allow for the family members to be evaluated for its presence, as well. Such indications of abnormalities that could potentially arise from the papillorenal syndrome include, but are not limited to:
- abnormal blood flow resistance
- multiple cilioretinal vessels
- atypical morning glory cases
- abnormal insertion of vessels posterior to the globe
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]