Cornea plana 1

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Cornea Plana 1

Cornea Plana 1 (pronounced: kor-nee-uh plan-uh one), also known as CNA1, is a rare genetic disorder that affects the shape and function of the cornea, the clear outer layer of the eye.

Etymology

The term "Cornea Plana 1" is derived from the Latin words "cornea" meaning "horny", referring to the hard, clear outer layer of the eye, and "plana" meaning "flat". The "1" denotes that it is the first variant of this condition to be identified.

Symptoms

Individuals with Cornea Plana 1 typically have corneas that are flatter than normal, which can lead to nearsightedness (myopia) or astigmatism. Other symptoms may include hypermetropia (farsightedness), strabismus (crossed eyes), and nystagmus (involuntary eye movement).

Causes

Cornea Plana 1 is caused by mutations in the KERA gene. This gene provides instructions for making a protein that is essential for the normal development of the cornea. Mutations in the KERA gene disrupt the structure of the cornea, leading to the characteristic flat shape seen in Cornea Plana 1.

Diagnosis

Diagnosis of Cornea Plana 1 is typically made through a comprehensive eye examination, including a detailed examination of the cornea. Genetic testing may also be performed to confirm the diagnosis.

Treatment

Treatment for Cornea Plana 1 is typically focused on managing the symptoms and may include corrective lenses or surgery to reshape the cornea.

Related Terms

External links

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