Lattice Corneal Dystrophy Type 3A

Lattice Corneal Dystrophy Type 3A

Article
Eye & Vision
Diseases & Conditions
+2
Contributed byMaulik P. Purohit MD MPHJul 11, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Lattice Corneal Dystrophy Type III A
  • LCD Type 3A (Lattice Corneal Dystrophy Type 3A)

What is Lattice Corneal Dystrophy Type 3A? (Definition/Background Information)

  • Lattice Corneal Dystrophy Type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision
  • Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light
  • Lattice Corneal Dystrophy Type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner
  • The condition is usually treated surgically

(Source: Lattice Corneal Dystrophy Type 3A; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Lattice Corneal Dystrophy Type 3A? (Age and Sex Distribution)

  • Lattice Corneal Dystrophy Type 3A is a rare congenital disorder. The presentation of symptoms occurs between the ages of 70 and 90 years
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Lattice Corneal Dystrophy Type 3A? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Lattice Corneal Dystrophy Type 3A can be inherited
  • Currently, no other risk factors have been clearly identified for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Lattice Corneal Dystrophy Type 3A? (Etiology)

  • Lattice Corneal Dystrophy Type 3A is caused by mutations in the TGFBI gene 
  • The TGFB1 gene codes for a protein known as transforming growth factor beta, which plays crucial roles in the division, growth, differentiation, adhesion, movement and death of cells
  • The protein is distributed in many parts of the body, including the cornea
  • In addition to TGFB1 gene mutation(s), changes in BIGH3 gene are also reported to cause LCD Type 3A
  • The condition is inherited in an autosomal dominant manner

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Lattice Corneal Dystrophy Type 3A?

The signs and symptoms of Lattice Corneal Dystrophy Type 3A may include:

  • Corneal erosion
  • Lattice corneal dystrophy
  • Reduced visual acuity
  • Visual impairment

(Source: IRAK-4 Deficiency Disorder; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

  • Sensitivity to bright light
  • Eye pain

How is Lattice Corneal Dystrophy Type 3A Diagnosed?

Lattice Corneal Dystrophy Type 3A is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Lattice Corneal Dystrophy Type 3A?

The complications of Lattice Corneal Dystrophy Type 3A may include:

  • Loss of vision acuity
  • Vision impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Lattice Corneal Dystrophy Type 3A Treated?

There is no cure for Lattice Corneal Dystrophy Type 3A, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Lattice Corneal Dystrophy Type 3A be Prevented?

  • Currently, Lattice Corneal Dystrophy Type 3A may not be preventable, since it is a genetic disorder.
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Lattice Corneal Dystrophy Type 3A? (Outcomes/Resolutions)

  • The prognosis of Lattice Corneal Dystrophy Type 3A is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Lattice Corneal Dystrophy Type 3A:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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