Clinical characteristics: Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. 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; intellectual disability can range from mild to severe.
Diagnosis/testing: The diagnosis of Peters plus syndrome is a clinical diagnosis that can be confirmed by identification of biallelic B3GLCT pathogenic variants on molecular genetic testing.
Management: Treatment of manifestations: Consideration of corneal transplantation (penetrating keratoplasty) for severe bilateral corneal opacification before 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 in infancy and childhood or as indicated later on 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 (i.e., carriers of one B3GLCT pathogenic variant). 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 once the pathogenic variants have been identified in an affected family member.
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