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TGFBI gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TGFBI gene

The TGFBI gene provides instructions for making a protein that supports tissue structure and cell adhesion, particularly within the cornea of the eye.

Normal Function

The TGFBI gene provides instructions for making a protein called transforming growth factor beta induced (TGFBI). This protein is secreted from cells and becomes part of the extracellular matrix, an intricate network that provides structural support to tissues. The TGFBI protein plays a role in cell adhesion and migration and is found in many tissues, including the cornea.

Health Conditions Related to Genetic Changes

Lattice corneal dystrophy type I

At least 26 mutations in the TGFBI gene can cause lattice corneal dystrophy type I, an inherited eye condition characterized by the accumulation of amyloid deposits in the cornea. These deposits cloud the cornea and impair vision.

  • Mutations change single amino acids in the TGFBI protein.
  • The most common mutation is Arg124Cys (R124C).
  • Altered TGFBI proteins abnormally clump together to form amyloid deposits in the stromal layer of the cornea.

Keratoconus

MedlinePlus Genetics provides information about Keratoconus.

Other disorders

TGFBI gene mutations are involved in several other types of corneal dystrophy, where protein deposits form in different shapes, patterns, and layers of the cornea. Common mutations include:

  • Arg124His: Most often causes Avellino corneal dystrophy.
  • Arg124Lys: Most often causes Reis-Bucklers corneal dystrophy.
  • Arg555Gln: Most often causes Thiel-Behnke corneal dystrophy.
  • Arg555Trp: Most often causes Groenouw corneal dystrophy.

Frequently Asked Questions

Early signs often include mild blurry vision, glare, or halos around lights, especially in low light. Patients may notice a slight decrease in visual acuity or a feeling that something is “in the eye” before any visible deposits are seen on slit‑lamp examination.
Testing is usually done by sequencing the TGFBI gene from a blood sample (or saliva if blood is not feasible). The lab looks for known pathogenic variants such as Arg124Cys, Arg124His, Arg124Lys, Arg555Gln, and Arg555Trp. Results typically return within 2–4 weeks and can confirm the specific dystrophy subtype.
Transplant (penetrating keratoplasty or deep anterior lamellar keratoplasty) is considered when visual acuity drops below 20/60 despite optimal medical therapy, or when recurrent erosions cause pain. Modern lamellar techniques preserve the endothelium and have lower rejection rates; most patients regain functional vision (20/30‑20/40) within 3–6 months, though the underlying genetic defect can cause recurrence of deposits in the graft over years.
There is no proven cure, but protecting the eyes from UV exposure (sunglasses with 100% UV‑A/B protection), avoiding chronic eye irritation, and using preservative‑free artificial tears can reduce secondary inflammation that might accelerate deposit formation. Some clinicians trial topical steroids or anti‑inflammatory agents during flare‑ups, but evidence is limited.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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