Cornea plana 1: Difference between revisions
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{{Infobox medical condition | |||
| name = Cornea plana 1 | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Cornea plana 1 is inherited in an [[autosomal dominant]] manner. | |||
| synonyms = Flat cornea | |||
| field = [[Ophthalmology]] | |||
| symptoms = Reduced [[visual acuity]], [[hyperopia]], [[astigmatism]] | |||
| complications = [[Keratoconus]], [[glaucoma]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Genetic mutation in the [[KERA]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Slit lamp]] examination, [[corneal topography]] | |||
| differential = [[Keratoconus]], [[sclerocornea]] | |||
| treatment = [[Corrective lenses]], [[corneal transplant]] | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
}} | |||
== Cornea Plana 1 == | == Cornea Plana 1 == | ||
'''Cornea Plana 1''' is a rare [[genetic disorder]] characterized by a significantly flatter [[cornea]] than normal. This condition affects the [[refractive power]] of the eye, leading to [[vision problems]] such as [[hyperopia]] (farsightedness) and [[astigmatism]]. | '''Cornea Plana 1''' is a rare [[genetic disorder]] characterized by a significantly flatter [[cornea]] than normal. This condition affects the [[refractive power]] of the eye, leading to [[vision problems]] such as [[hyperopia]] (farsightedness) and [[astigmatism]]. | ||
== Genetics == | == Genetics == | ||
Cornea Plana 1 is caused by mutations in the [[KERA gene]], which is responsible for encoding the protein [[keratocan]]. Keratocan is essential for maintaining the normal curvature and transparency of the cornea. The disorder is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. | Cornea Plana 1 is caused by mutations in the [[KERA gene]], which is responsible for encoding the protein [[keratocan]]. Keratocan is essential for maintaining the normal curvature and transparency of the cornea. The disorder is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. | ||
== Symptoms == | == Symptoms == | ||
Individuals with Cornea Plana 1 may experience: | Individuals with Cornea Plana 1 may experience: | ||
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* [[Astigmatism]] | * [[Astigmatism]] | ||
* [[Hyperopia]] | * [[Hyperopia]] | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Cornea Plana 1 typically involves a comprehensive [[eye examination]] by an [[ophthalmologist]]. This may include: | Diagnosis of Cornea Plana 1 typically involves a comprehensive [[eye examination]] by an [[ophthalmologist]]. This may include: | ||
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* [[Corneal topography]] to map the surface of the cornea | * [[Corneal topography]] to map the surface of the cornea | ||
* [[Genetic testing]] to identify mutations in the KERA gene | * [[Genetic testing]] to identify mutations in the KERA gene | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Cornea Plana 1, but treatment focuses on managing symptoms and improving vision. Options may include: | There is currently no cure for Cornea Plana 1, but treatment focuses on managing symptoms and improving vision. Options may include: | ||
* [[Corrective lenses]] such as [[glasses]] or [[contact lenses]] | * [[Corrective lenses]] such as [[glasses]] or [[contact lenses]] | ||
* [[Refractive surgery]] in some cases, although this is less common | * [[Refractive surgery]] in some cases, although this is less common | ||
== See Also == | == See Also == | ||
* [[Cornea]] | * [[Cornea]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Ophthalmology]] | * [[Ophthalmology]] | ||
== References == | == References == | ||
* [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234567/ Article on Cornea Plana 1] | * [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234567/ Article on Cornea Plana 1] | ||
* [https://www.genome.gov/genetics-glossary/Autosomal-Recessive Autosomal Recessive Inheritance] | * [https://www.genome.gov/genetics-glossary/Autosomal-Recessive Autosomal Recessive Inheritance] | ||
{{Genetic disorders}} | {{Genetic disorders}} | ||
{{Ophthalmology}} | {{Ophthalmology}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 13:28, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Cornea plana 1 | |
|---|---|
| |
| Synonyms | Flat cornea |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Reduced visual acuity, hyperopia, astigmatism |
| Complications | Keratoconus, glaucoma |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the KERA gene |
| Risks | Family history of the condition |
| Diagnosis | Slit lamp examination, corneal topography |
| Differential diagnosis | Keratoconus, sclerocornea |
| Prevention | N/A |
| Treatment | Corrective lenses, corneal transplant |
| Medication | N/A |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | N/A |
Cornea Plana 1[edit]
Cornea Plana 1 is a rare genetic disorder characterized by a significantly flatter cornea than normal. This condition affects the refractive power of the eye, leading to vision problems such as hyperopia (farsightedness) and astigmatism.
Genetics[edit]
Cornea Plana 1 is caused by mutations in the KERA gene, which is responsible for encoding the protein keratocan. Keratocan is essential for maintaining the normal curvature and transparency of the cornea. The disorder is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
Symptoms[edit]
Individuals with Cornea Plana 1 may experience:
- Reduced visual acuity
- Increased sensitivity to light (photophobia)
- Astigmatism
- Hyperopia
Diagnosis[edit]
Diagnosis of Cornea Plana 1 typically involves a comprehensive eye examination by an ophthalmologist. This may include:
- Keratometry to measure the curvature of the cornea
- Corneal topography to map the surface of the cornea
- Genetic testing to identify mutations in the KERA gene
Treatment[edit]
There is currently no cure for Cornea Plana 1, but treatment focuses on managing symptoms and improving vision. Options may include:
- Corrective lenses such as glasses or contact lenses
- Refractive surgery in some cases, although this is less common
See Also[edit]
References[edit]
| Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
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