Lattice corneal dystrophy
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:
- Blurred vision
- Photophobia (sensitivity to light)
- Eye pain
- Corneal erosion (breakdown of the outermost layer of the cornea)
- Recurrent corneal erosion (repeated breakdown of the corneal surface)
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:
- Artificial tears or ointments to relieve dryness and discomfort
- Corneal transplantation in severe cases
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
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This eye diseases related article is a stub.
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NIH genetic and rare disease info
Lattice corneal dystrophy is a rare disease.
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Rare diseases - Lattice corneal dystrophy
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| Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
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