Papillorenal syndrome risk factors
Overview
Risk factors
When it happens as a function of a genetic syndrome or chromosomal problem, it may cluster in households according to the inheritance pattern for that condition. Environmental factors that impact early development, such as the exposure to alcohol and particular drugs during pregnancy, might increase the risk of coloboma.
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he bottom line is, it arises from abnormal development of the eye during the 3rd trimester of pregnancy, when the eye is forming. The flaw takes place when the optic fissure does not close completely. Its area depends on which part of the optic fissure fails to close.
Keyhole pupil might occur spontaneously or it might be acquired. Persons with isolated coloboma can still pass the condition onto their children.
When it happens as a function of a genetic syndrome or chromosomal problem, it may cluster in households according to the inheritance pattern for that condition.
Environmental factors that impact early development, such as the exposure to alcohol and particular drugs during pregnancy, might increase the risk of coloboma.
Prenatal diagnosis or pre-implantation genetic testing is possible if a clearly pathogenic PAX2 mutation has been identified in a family.
Genetic counseling
RCS is inherited in an autosomal dominant pattern, though this is complicated by de novo cases, variable expression, incomplete clinical penetrance, and maternal and paternal gonosomal mosaicism.