Cornea plana 1
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| 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
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
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
Individuals with Cornea Plana 1 may experience:
- Reduced visual acuity
- Increased sensitivity to light (photophobia)
- Astigmatism
- Hyperopia
Diagnosis
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
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
References
| Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
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Contributors: Prab R. Tumpati, MD