Peters plus syndrome

What causes Peters plus syndrome?

Peters plus syndrome is caused by mutations in the B3GLCT _gene. The gene provides instructions for making an enzyme which is involved in the complex process of adding sugar molecules to proteins. This process if called glycosylation. When sugar molecules are added to proteins, proteins can perform a wider variety of functions. Mutations in the _B3GLCT gene results in a short and nonfunctional enzyme. It is unclear how this leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.

Last updated on 05-01-20

Is genetic testing available for Peters plus syndrome?

Genetic testing is available for Peters plus syndrome, including carrier screening for at-risk family members and prenatal diagnosis for pregnancies at increased risk, if the disease-causing mutations in the family are known. To learn more about the various options available to you, we recommend you work with your healthcare provider and/or a genetics professional.

Last updated on 05-01-20

How is Peters plus syndrome inherited?

is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the B3GLCT gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier

Last updated on 05-01-20

What is the long-term outlook for Peters plus syndrome?

The signs and symptoms of Peters plus syndrome vary greatly from person to person, as does the severity of the disease. There may be an increased risk for miscarriage and stillbirth among mothers of affected children. Additionally, some babies may not survive past infancy due to heart failure or other undetermined causes. However, the lifespan of some individuals with Peters plus syndrome is normal. A health care provider may be able to comment on the extent of the disease of an affected individual and discuss which signs and symptoms in the patient might impact lifespan.

Last updated on 05-01-20

How might Peters plus syndrome be treated?

Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended:

  • Eye examination
  • Growth hormone testing
  • Developmental assessment
  • Heart examination
  • Kidney examination
  • Head examination
  • Thyroid testing
  • Hearing assessment

Assessment by an ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments. Preservation of vision in the affected eye(s) often requires surgery such as corneal transplantation (penetrating keratoplasty).

Certain medications, such as corticosteroids, should be avoided, as they increase the risk of glaucoma.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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