OMIM ID:
Peters-Plus Syndrome
Alternate Names
Defective Genes
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.
Genetics
Inheritance
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.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.