Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Peters plus syndrome alone.
Find your community on the free RareGuru App.Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features. The most common eye abnormality is Peters anomaly, which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities, such as glaucoma and cataracts are also common. The severity of symptoms may vary from person to person. It is caused by mutations in the B3GLCT gene and is inherited in an autosomal recessive fashion. Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended.
Source: GARD Last updated on 05-01-20
The main signs and symptoms of Peters plus syndrome include the following:
Other associated findings include congenital heart defects, abnormalities of the kidney, structural brain malformations, congenital hypothyroidism, and conductive hearing loss.
Last updated on 05-01-20
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
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
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:
Last updated on 05-01-20
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
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:
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
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.