Peters plus syndrome

Peters plus syndrome (also known as Krause-Kivlin syndrome or Peters-plus syndrome) is a rare autosomal recessive disorder characterized by a combination of anterior eye segment abnormalities, short stature with rhizomelic (proximal) limb shortening, distinctive facial features, and variable intellectual disability. The condition is caused by mutations in the B3GLCT gene (formerly known as B3GALTL), located on chromosome 13q12.3, which encodes an enzyme involved in protein glycosylation. The hallmark ocular finding is Peters anomaly, a developmental defect of the anterior chamber of the eye involving central corneal opacity (leukoma), defects in the posterior corneal layers (Descemet membrane and endothelium), and variable adhesions between the iris or lens and the cornea. These eye abnormalities are typically present at birth and can lead to significant visual impairment or blindness if untreated. Glaucoma is a frequent complication. Other ocular features may include microphthalmia, cataracts, and anterior synechiae. Additional clinical features include disproportionate short stature, a characteristic facial appearance with a prominent forehead, narrow palpebral fissures, a long philtrum, thin upper lip (often described as a Cupid's bow shape), and broad hands with clinodactyly of the fifth finger. Cleft lip and/or palate may occur. Developmental delay and intellectual disability of variable severity are common but not universal. Congenital heart defects, genitourinary anomalies, and structural brain abnormalities have also been reported in some patients. Treatment is primarily supportive and symptom-directed. Corneal transplantation (penetrating keratoplasty) may be attempted to improve vision, though outcomes can be variable. Glaucoma management, developmental support, and monitoring for associated anomalies are important components of care. No disease-specific therapy currently exists.

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