Papillorenal syndrome risk factors

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.

Mar. 18, 2020

A coloboma is believed to be genetic and can be passed along in families.

Sometimes a coloboma is part of a genetic syndrome. For instance, cat eye syndrome, a rare disorder named after the distinctive shape of an iris coloboma, is caused by a specific genetic mutation and occurs along with other physical abnormalities.

However, not all babies born with a coloboma have a family history of this condition or a particular syndrome, suggesting that the disorder can appear by chance.

A coloboma describes conditions where normal tissue in or around the eye is missing at birth.

Coloboma comes from the Greek word that means "curtailed." The eye develops quickly during a fetus' first three months of growth. A gap, known as the choroidal fissure, appears at the bottom of the stalks that eventually forms the eye. This fissure generally closes by the seventh week of pregnancy. If it does not close, a coloboma or space forms.

A coloboma can affect one or both eyes. If both eyes are involved, it can affect them the same way or differently. There are different types of coloboma, depending on the part of the eye affected:

• Eyelid coloboma. A piece of the upper or lower eyelid is missing.
• Lens coloboma. A piece of the lens is missing.
• Macular coloboma. In this coloboma, the macula fails to develop normally.
• Optic nerve coloboma. In this coloboma, the optic nerve is hollowed out, reducing vision.
• Uveal coloboma. The uvea is the middle layer of the eye. This coloboma can affect the iris, the colored part of the eye, giving it a distinct keyhole or cat-eye appearance.
• Chorio-retinal coloboma. In this coloboma, part of the retina is missing.

The wide association between urinary tract malformations and dysplastic kidneys, known as CAKUT (Congenital Anomalies of the Kidney and Urinary Tract), could be caused by a single disorder of the embryonic development of the kidney and urinary tract. These complex patterns of development are under genetic control. A positive family history strongly suggests a genetic origin of these conditions. Linkage studies show an extreme genetic heterogenicity and an important phenotypic and clinical variability of the same mutation. Some urinary tract malformations have been investigated in the context of clinical syndromes. The renal-coloboma syndrome is an autosomal dominant human disease, secondary to mutation of the PAX2 transcription factor, characterized by optic nerve coloboma, renal anomalies and vesicoureteral reflux. However, most of the urinary tract anomalies can occur in isolation. Studies have shown the association of hereditary hydronephrosis with HLA antigens on chromosome 6 and the association of VUR with the mutations in a locus of chromosome 1. The higher frequency and severity of some uropathies in the male gender may be explained by a linkage-disequilibrium phenomenon or a X-linked transmission pattern. For example, the mutations in the AGTR2 gene on chromosome X were observed in animal models but not yet confirmed in human subjects. Finally, the ACE gene polymorphism is associated with a higher incidence of congenital hypo-dysplastic kidneys and represents a significant risk factor for the development of progressive