Krause-Kivlin syndrome

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.

Genetics

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

Treatment

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.

References

Article Title:

First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome

Mahmoud AB, Siala O, Mansour RB, Driss F, Baklouti-Gargouri S, Mkaouar-Rebai E, Belguith N, Fakhfakh F. First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. Gene. 2013 Aug 14. [Epub ahead of print].

PubMed ID:

23954224

Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV. Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clin Genet. 2013 Jul 24. [Epub ahead of print].

PubMed ID:

23889335

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006 Sep;79(3):562-6. Erratum in: Am J Hum Genet. 2006 Nov;79(5):985.

PubMed ID:

16909395

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:

12119218

Peters' anomaly and associated congenital malformations

Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Arch Ophthalmol. 1992 Dec;110(12):1739-42.

PubMed ID:

1463415

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