Cornea plana 1

Cornea plana 1 is a rare genetic disorder characterized by a flattened cornea, the clear outer layer of the eye. This condition is also known as CNA1 and is primarily associated with reduced eye curvature, increased eye diameter, and hypermetropia, or farsightedness.

Genetics

Cornea plana 1 is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. The disorder is caused by mutations in the KERA gene, which is responsible for producing a protein called keratocan. This protein plays a crucial role in the development and maintenance of the cornea.

Symptoms

The primary symptom of Cornea plana 1 is a flattened cornea, which can lead to a variety of vision problems. These include hypermetropia, astigmatism, and strabismus. Some individuals may also experience nystagmus, a condition characterized by involuntary eye movements.

Diagnosis

Diagnosis of Cornea plana 1 typically involves a comprehensive eye examination, including a measurement of the curvature of the cornea. Genetic testing may also be performed to confirm the presence of mutations in the KERA gene.

Treatment

There is currently no cure for Cornea plana 1. Treatment is typically focused on managing the symptoms and may include corrective eyewear or refractive surgery to improve vision.

See also

• Cornea
• Genetic disorder
• KERA (gene)
• Hypermetropia
• Astigmatism
• Strabismus
• Nystagmus