Lattice corneal dystrophy type 1 (LCD1) is an eye disorder that affects the cornea, the clear outer covering of the eye. In order to see properly, the cornea must remain clear. In LCD1, a protein, known as amyloid, builds up in a layer of the cornea called the stroma. Symptoms usually become apparent in childhood or adolescence and may include separation of layers of the cornea (corneal erosions), decreased vision, photosensitivity, and eye pain. LCD1 is caused by mutations in the TGFBI gene and is inherited in an autosomal dominant manner. Treatment focuses on relieving erosions with antibiotics and bandage contact lenses. If treatment is not successful and erosions become recurrent, phototherapeutic keratectomy to smooth the corneal surface and corneal transplant may be considered.

TGFB1 gene. The TGFB1 gene provides instructions for making a protein, called TGFB1, which is found in many tissues of the body, including the cornea. TGFB1 is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration).

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

If you are interested in learning more about the inheritance of lattice corneal dystrophy type 1 and risks for family members, we would recommend consulting with a genetic specialist. Click here to learn more about how to find a genetics clinic.

Genetic testing is available for LCD1. Genetic Testing Registry lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through Genetic Testing Registry do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view more information on genetic testing for lattice corneal dystrophy type 1, click here.

Treatment for lattice corneal dystrophy type 1 (LCD1) depends on the disease severity and the associated symptoms. Patching and soft contact lenses may be recommended for episodes of corneal erosion. Corneal transplant (i.e., penetrating keratoplasty) or phototherapeutic keratectomy may be an option for individuals with recurrent erosions and/or vision loss.