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Peters Plus Syndrome.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2007 Oct 08 [updated 2014 Jan 23].

Excerpt

DISEASE CHARACTERISTICS:

Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, variable developmental delay/intellectual disability, characteristic facial features, and cleft lip/palate. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; while some adults have normal cognitive function, intellectual disability can range from mild to severe. Cleft lip is present in 45% and cleft palate in 33%.

DIAGNOSIS/TESTING:

Diagnosis is based on clinical findings and molecular genetic testing of B3GALTL, the only gene in which mutations are known to cause Peters plus syndrome. Most affected individuals tested to date are homozygous for a common splice-site mutation in intron 8 (c.660+1G>A).

MANAGEMENT:

Treatment of manifestations: Consideration of corneal transplantation (penetrating keratoplasty) for severe bilateral corneal opacification prior to age three to six months to prevent amblyopia; consideration of simple separation of iridocorneal adhesions in mild cases; management of amblyopia by a pediatric ophthalmologist; surgical/medical intervention for glaucoma as needed; developmental/educational interventions as needed. Surveillance: Assessment by a pediatric ophthalmologist every three months or as indicated to monitor for glaucoma and amblyopia; regular developmental assessments. Agents/circumstances to avoid: Agents that increase risk of glaucoma (e.g., corticosteroids).

GENETIC COUNSELING:

Peters plus syndrome is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes and thus carry one mutant allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. There is an increased chance for miscarriages and second- and third-trimester fetal loss of affected fetuses. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.

Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

PMID:
20301637
[PubMed]
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