Papillorenal syndrome risk factors: Difference between revisions
| Line 22: | Line 22: | ||
===''Genetic counseling''=== | ===''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.'' | ''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. | |||
==References== | ==References== | ||
Revision as of 23:21, 5 September 2020
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.
|
Papillorenal syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Papillorenal syndrome risk factors On the Web |
|
American Roentgen Ray Society Images of Papillorenal syndrome risk factors |
|
Risk calculators and risk factors for Papillorenal syndrome risk factors |
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.