Cornea plana 1

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Cornea plana 1
Autosomal dominant - en.svg
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:

Diagnosis

Diagnosis of Cornea Plana 1 typically involves a comprehensive eye examination by an ophthalmologist. This may include:

Treatment

There is currently no cure for Cornea Plana 1, but treatment focuses on managing symptoms and improving vision. Options may include:

See Also

References


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Contributors: Prab R. Tumpati, MD