Lattice corneal dystrophy

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Lattice corneal dystrophy is a rare, inherited disorder characterized by the abnormal accumulation of amyloid deposits in the cornea, the clear, outermost layer of the eye. It is named for the characteristic lattice-like pattern that the deposits form.

Symptoms

The primary symptom of lattice corneal dystrophy is the presence of abnormal, lattice-like deposits in the cornea. These deposits can cause a variety of symptoms, including:

Causes

Lattice corneal dystrophy is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues, including the cornea. Mutations in the TGFBI gene lead to the production of an abnormal protein that cannot be broken down properly, leading to the accumulation of amyloid deposits in the cornea.

Diagnosis

Diagnosis of lattice corneal dystrophy is typically made based on the characteristic appearance of the cornea under examination with a slit lamp. Genetic testing can also be used to confirm the diagnosis.

Treatment

There is currently no cure for lattice corneal dystrophy. Treatment is focused on managing symptoms and may include:

Prognosis

The prognosis for individuals with lattice corneal dystrophy varies. Some individuals may have mild symptoms and maintain good vision throughout their lives, while others may experience severe vision loss.

See also




NIH genetic and rare disease info

Lattice corneal dystrophy is a rare disease.



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