Posterior polymorphous corneal dystrophy: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Posterior polymorphous corneal dystrophy | |||
| image = [[File:Posterior_polymorphous_corneal_dystrophy_1.JPEG|250px]] | |||
| caption = Slit lamp image showing posterior polymorphous corneal dystrophy | |||
| field = [[Ophthalmology]] | |||
| synonyms = PPCD | |||
| symptoms = [[Corneal edema]], [[blurred vision]], [[glare]], [[halos]] | |||
| complications = [[Glaucoma]], [[corneal decompensation]] | |||
| onset = Usually in [[childhood]] or [[early adulthood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Slit lamp examination]], [[corneal topography]], [[genetic testing]] | |||
| differential = [[Fuchs' dystrophy]], [[congenital hereditary endothelial dystrophy]] | |||
| treatment = [[Observation]], [[hypertonic saline]], [[corneal transplant]] | |||
| prognosis = Variable, can be stable or progressive | |||
| frequency = Rare | |||
| deaths = Not directly life-threatening | |||
}} | |||
'''Posterior Polymorphous Corneal Dystrophy''' (PPCD) is a rare genetic disorder that affects the [[cornea]] of the eye. It is characterized by changes in the innermost layer of the cornea, known as the [[endothelium]]. These changes can lead to a variety of symptoms, including blurred vision, glare, and in severe cases, loss of vision. | '''Posterior Polymorphous Corneal Dystrophy''' (PPCD) is a rare genetic disorder that affects the [[cornea]] of the eye. It is characterized by changes in the innermost layer of the cornea, known as the [[endothelium]]. These changes can lead to a variety of symptoms, including blurred vision, glare, and in severe cases, loss of vision. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of PPCD can vary greatly from person to person. Some individuals may have no symptoms at all, while others may experience significant vision problems. Common symptoms include: | The symptoms of PPCD can vary greatly from person to person. Some individuals may have no symptoms at all, while others may experience significant vision problems. Common symptoms include: | ||
* Blurred vision | * Blurred vision | ||
* Glare | * Glare | ||
| Line 9: | Line 27: | ||
* Pain or discomfort in the eye | * Pain or discomfort in the eye | ||
* Decreased visual acuity | * Decreased visual acuity | ||
== Causes == | == Causes == | ||
PPCD is caused by mutations in the [[COL8A2]] and [[ZEB1]] genes. These genes are involved in the development and function of the cornea. Mutations in these genes can lead to the abnormal development of the cornea, resulting in the symptoms of PPCD. | PPCD is caused by mutations in the [[COL8A2]] and [[ZEB1]] genes. These genes are involved in the development and function of the cornea. Mutations in these genes can lead to the abnormal development of the cornea, resulting in the symptoms of PPCD. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of PPCD is typically made based on a thorough eye examination, including a [[slit lamp examination]]. This examination allows the doctor to view the inner structures of the eye and identify any abnormalities. Genetic testing may also be performed to confirm the diagnosis. | The diagnosis of PPCD is typically made based on a thorough eye examination, including a [[slit lamp examination]]. This examination allows the doctor to view the inner structures of the eye and identify any abnormalities. Genetic testing may also be performed to confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for PPCD. Treatment is focused on managing the symptoms and preventing further damage to the cornea. This may include the use of eye drops to reduce inflammation and discomfort, or in severe cases, corneal transplantation may be necessary. | There is currently no cure for PPCD. Treatment is focused on managing the symptoms and preventing further damage to the cornea. This may include the use of eye drops to reduce inflammation and discomfort, or in severe cases, corneal transplantation may be necessary. | ||
== See Also == | == See Also == | ||
* [[Corneal dystrophy]] | * [[Corneal dystrophy]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Eye examination]] | * [[Eye examination]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Eye diseases]] | [[Category:Eye diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Eye-diseases-stub}} | {{Eye-diseases-stub}} | ||
{{Genetic-disorders-stub}} | {{Genetic-disorders-stub}} | ||
{{Rare-diseases-stub}} | {{Rare-diseases-stub}} | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:08, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Posterior polymorphous corneal dystrophy | |
|---|---|
| |
| Synonyms | PPCD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Corneal edema, blurred vision, glare, halos |
| Complications | Glaucoma, corneal decompensation |
| Onset | Usually in childhood or early adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history of the condition |
| Diagnosis | Slit lamp examination, corneal topography, genetic testing |
| Differential diagnosis | Fuchs' dystrophy, congenital hereditary endothelial dystrophy |
| Prevention | N/A |
| Treatment | Observation, hypertonic saline, corneal transplant |
| Medication | N/A |
| Prognosis | Variable, can be stable or progressive |
| Frequency | Rare |
| Deaths | Not directly life-threatening |
Posterior Polymorphous Corneal Dystrophy (PPCD) is a rare genetic disorder that affects the cornea of the eye. It is characterized by changes in the innermost layer of the cornea, known as the endothelium. These changes can lead to a variety of symptoms, including blurred vision, glare, and in severe cases, loss of vision.
Symptoms and Signs[edit]
The symptoms of PPCD can vary greatly from person to person. Some individuals may have no symptoms at all, while others may experience significant vision problems. Common symptoms include:
- Blurred vision
- Glare
- Halos around lights
- Pain or discomfort in the eye
- Decreased visual acuity
Causes[edit]
PPCD is caused by mutations in the COL8A2 and ZEB1 genes. These genes are involved in the development and function of the cornea. Mutations in these genes can lead to the abnormal development of the cornea, resulting in the symptoms of PPCD.
Diagnosis[edit]
The diagnosis of PPCD is typically made based on a thorough eye examination, including a slit lamp examination. This examination allows the doctor to view the inner structures of the eye and identify any abnormalities. Genetic testing may also be performed to confirm the diagnosis.
Treatment[edit]
There is currently no cure for PPCD. Treatment is focused on managing the symptoms and preventing further damage to the cornea. This may include the use of eye drops to reduce inflammation and discomfort, or in severe cases, corneal transplantation may be necessary.
See Also[edit]
References[edit]
<references />
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