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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

Lattice corneal dystrophy type II

Reviewed April 2012

What is lattice corneal dystrophy type II?

Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Amyloid deposits lead to characteristic signs and symptoms involving the eyes, nerves, and skin that worsen with age.

The earliest sign of this condition, which is usually identified in a person's twenties, is accumulation of amyloid deposits in the cornea (lattice corneal dystrophy). The cornea is the clear, outer covering of the eye. It is made up of several layers of tissue, and in lattice corneal dystrophy type II, the amyloid deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Because these protein deposits cloud the cornea, they often lead to vision impairment. In addition, affected individuals can 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). Amyloid deposits and corneal erosions are usually bilateral, which means they affect both eyes.

As lattice corneal dystrophy type II progresses, the nerves become involved, typically starting in a person's forties. It is thought that the amyloid deposits disrupt nerve function. Dysfunction of the nerves in the head and face (cranial nerves) can cause paralysis of facial muscles (facial palsy); decreased sensations in the face (facial hypoesthesia); and difficulty speaking, chewing, and swallowing. Dysfunction of the nerves that connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat (peripheral nerves) can cause loss of sensation and weakness in the limbs (peripheral neuropathy). Peripheral neuropathy usually occurs in the lower legs and arms, leading to muscle weakness, clumsiness, and difficulty sensing vibrations.

The skin is also commonly affected in people with lattice corneal dystrophy type II, typically beginning in a person's forties. People with this condition may have thickened, sagging skin, especially on the scalp and forehead, and a condition called cutis laxa, which is characterized by loose skin that lacks elasticity. The skin can also be dry and itchy. Because of loose skin and muscle paralysis in the face, individuals with lattice corneal dystrophy type II can have a facial expression that appears sad.

How common is lattice corneal dystrophy type II?

Lattice corneal dystrophy type II is a rare condition; however, the prevalence is unknown. While this condition can be found in populations worldwide, it was first described in Finland and is more common there.

What genes are related to lattice corneal dystrophy type II?

Lattice corneal dystrophy type II is caused by mutations in the GSN gene. This gene provides instructions for making a protein called gelsolin. This protein is found throughout the body and helps regulate the formation of the network of protein filaments that gives structure to cells (the cytoskeleton). Mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the gelsolin protein. The altered gelsolin protein is broken down differently than the normal protein, which results in an abnormal gelsolin protein fragment that is released from the cell. These protein fragments clump together and form amyloid deposits, which lead to the signs and symptoms of lattice corneal dystrophy type II.

Related Gene(s)

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

  • GSN

How do people inherit lattice corneal dystrophy type II?

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. Although a mutation in one copy of the gene can cause the disorder, people with mutations in both copies of the gene have more severe signs and symptoms.

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

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

  • American Foundation for the Blind: Living with Vision Loss (
  • Genetic Testing Registry: Meretoja syndrome (
  • Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination (

You might also find information on the diagnosis or management of lattice corneal dystrophy type II in Educational resources and Patient support.

General information about the diagnosis ( and management ( of genetic conditions is available in the Handbook. Read more about genetic testing (, particularly the difference between clinical tests and research tests (

To locate a healthcare provider, see How can I find a genetics professional in my area? ( in the Handbook.

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

You may find the following resources about lattice corneal dystrophy type II 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 II?

  • amyloid cranial neuropathy with lattice corneal dystrophy
  • amyloidosis due to mutant gelsolin
  • amyloidosis, Finnish type
  • amyloidosis, Meretoja type
  • amyloidosis V
  • familial amyloidosis, Finnish type
  • familial amyloid polyneuropathy type IV
  • gelsolin-related amyloidosis
  • Kymenlaakso syndrome
  • lattice corneal dystrophy, gelsolin type
  • Meretoja syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines ( and How are genetic conditions and genes named? ( in the Handbook.

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

Ask the Genetic and Rare Diseases Information Center (

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

amino acid ; amyloid ; amyloidosis ; autosomal ; autosomal dominant ; basement membranes ; bilateral ; cell ; cornea ; cranial nerves ; cytoskeleton ; familial ; gene ; inherited ; mutation ; neuropathy ; palsy ; peripheral ; peripheral nerves ; peripheral neuropathy ; photophobia ; prevalence ; protein ; sensitivity ; sensory cells ; sign ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Carrwik C, Stenevi U. Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). Acta Ophthalmol. 2009 Nov;87(8):813-9. doi: 10.1111/j.1755-3768.2009.01686.x. Epub . Review. (
  • Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Review. (
  • Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B. Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med. 1990 Dec 1;172(6):1865-7. (
  • Paunio T, Kangas H, Kalkkinen N, Haltia M, Palo J, Peltonen L. Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet. 1994 Dec;3(12):2223-9. (


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? ( in the Handbook.

Reviewed: April 2012
Published: February 1, 2016