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Genetics Home Reference: your guide to understanding genetic conditions
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Lattice corneal dystrophy type I

Reviewed April 2012

What is lattice corneal dystrophy type I?

Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern.

Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood.

How common is lattice corneal dystrophy type I?

Lattice corneal dystrophy type I is one of the most common disorders in a group of conditions that are characterized by protein deposits in the cornea (corneal dystrophies); however, it is still a rare condition. The prevalence of lattice corneal dystrophy type I is unknown.

What genes are related to lattice corneal dystrophy type I?

Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and provides structural support to tissues. The protein is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration).

The TGFBI gene mutations involved in lattice corneal dystrophy type I change single protein building blocks (amino acids) in the TGFBI protein. Mutated TGFBI proteins abnormally clump together and form amyloid deposits. However, it is unclear how the changes caused by the gene mutations induce the protein to form deposits.

Related Gene(s)

Changes in this gene are associated with lattice corneal dystrophy type I.

  • TGFBI

How do people inherit lattice corneal dystrophy type I?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of lattice corneal dystrophy type I?

These resources address the diagnosis or management of lattice corneal dystrophy type I and may include treatment providers.

  • American Foundation for the Blind: Living with Vision Loss (http://www.afb.org/info/living-with-vision-loss/2)
  • Genetic Testing Registry: Lattice corneal dystrophy Type I (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1690006)
  • Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination (http://www.merckmanuals.com/home/eye_disorders/diagnosis_of_eye_disorders/the_eye_examination.html)

You might also find information on the diagnosis or management of lattice corneal dystrophy type I in Educational resources (http://www.ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about lattice corneal dystrophy type I?

You may find the following resources about lattice corneal dystrophy type I helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for lattice corneal dystrophy type I?

  • Biber-Haab-Dimmer dystrophy

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about lattice corneal dystrophy type I?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding lattice corneal dystrophy type I?

acids ; amyloid ; autosomal ; autosomal dominant ; bilateral ; cell ; cell adhesion ; cornea ; extracellular ; extracellular matrix ; gene ; inherited ; photophobia ; prevalence ; protein ; sensitivity ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat. 2006 Jul;27(7):615-25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16683255?dopt=Abstract)
  • Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19236704?dopt=Abstract)
  • Liu Z, Wang YQ, Gong QH, Xie LX. An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. Mol Vis. 2008 Jun 30;14:1234-9. (http://www.ncbi.nlm.nih.gov/pubmed/18615206?dopt=Abstract)
  • Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997 Mar;15(3):247-51. (http://www.ncbi.nlm.nih.gov/pubmed/9054935?dopt=Abstract)
  • Schmitt-Bernard CF, Chavanieu A, Derancourt J, Arnaud B, Demaille JG, Calas B, Argiles A. In vitro creation of amyloid fibrils from native and Arg124Cys mutated betaIGH3((110-131)) peptides, and its relevance for lattice corneal amyloid dystrophy type I. Biochem Biophys Res Commun. 2000 Jul 5;273(2):649-53. (http://www.ncbi.nlm.nih.gov/pubmed/10873659?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2012
Published: November 24, 2014