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Corneal Dystrophy, Lattice Type I

OMIM ID:

autosomal dominant

Corneal Dystrophy, Lattice Type I

Alternate Names

lattice corneal dystrophy
LCD1
CDL1
LCD
Biber-Haab-Dimmer dystrophy

Defective Genes

TGFBI

Clinical Characteristics

Ocular Features

Lattice corneal dystrophy type I is one of the more common corneal dystrophies and occurs throughout the world.  Randomly oriented linear opacities resembling cotton threads accumulate in the central portions of the stroma.  These usually become apparent in the first decade of life although they are sometimes seen in infancy.  The peripheral cornea is relatively spared and intervening stromal areas are clear.  This is a progressive disorder in which vision during childhood is often normal but by the fifth and sixth decades most patients have severe visual impairment due to increasing accumulations of amyloid.  Corneal erosions may occur in the absence of stromal infiltrates.

Systemic Features

No systemic disease is found in LCD1 (as opposed to LCD type II).

Genetics

Inheritance

Type I lattice dystrophy is an autosomal dominant disorder as the result of mutations in the TGFBI gene (5q31).  Other corneal dystrophies (granular I or Groenouw type I, combined granular/lattice or Avellino type, Thiel-Behnke, Reis-Bucklers, epithelial basement membrane disease) have mutations in the same region of the same gene casting doubt on the value of using solely clinical and histologic distinctions in current classifications of these corneal disorders.

Pedigree

Autosomal dominant

Autosomal dominant disorders require only one mutation for the disease to be expressed.  Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease.  It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).

Image
Sample pedigree of autosomal dominant inheritance

Autosomal dominant inheritance leads to a vertical pattern of transmission

Treatment & Management

Recurrent corneal erosions benefit from standard treatments while penetrating keratoplasty may be necessary by the fifth decade to improve acuity.

Selected Resources

Publications

Displaying 1 - 3 of 3

Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene

PubMedID: 15531312

Molecular properties of wild-type and mutant betaIG-H3 proteins

PubMedID: 11867580

Three autosomal dominant corneal dystrophies map to chromosome 5q

PubMedID: 8136834