Peters-Plus Syndrome

Clinical Characteristics
Ocular Features: 

Peters anomaly (306229) usually occurs as an isolated ocular malformation and is often unilateral.  However, in some patients with bilateral involvement it is part of a systemic syndrome or other congenital conditions such as chromosomal deletions and the fetal alcohol syndrome.  It is called Peters Plus syndrome in the condition described here because of the association of a specific combination of systemic features.

The ocular features are consistent with dysgenesis of the anterior chamber.  The clinical picture is highly variable but generally consists of iris adhesions to the cornea centrally (classical Peters anomaly), occasionally lenticular adhesions as well, and thinning of the central corneal stroma.  As a result, the cornea may become edematous, cataracts may develop, and glaucoma is common.

Systemic Features: 

Peters-plus syndrome consists of Peters anomaly plus various degrees of developmental delays and intellectual deficits, short digits and short stature, and cleft lip and palate.  The facies is said to be characteristic due to a prominent forehead, narrow palpebral fissures, and a cupid's bow-shaped upperlip. There may be preauricular pits present and the neck is often broad.  The ears may be prominent.  Congenital heart defects are present in a third of patients and a few have genitourinary anomalies.


This is an autosomal recessive disorder of glycosylation caused by a mutation in the B3GALTL gene on chromosome 13 (13q12.3).  At least some patients have a splicing mutation in this gene leading to a skipping of exon 8.

Autosomal recessive
Treatment Options: 

Treatment is directed at sight preservation by correcting the major ocular defects such as glaucoma and iridocorneal adhesions.  Corneal transplants and cataract removal are sometimes required.  Releasing the anterior synechiae can lead to significant clearing of the corneal edema.  Growth hormone replacement therapy may be beneficial.

Article Title: 

The Peters' plus syndrome: a review

Maillette de Buy Wenniger-Prick LJ, Hennekam RC. The Peters' plus syndrome: a review. Ann Genet. 2002 Apr-Jun;45(2):97-103. Review.

PubMed ID: 
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