Peters anomaly

Cryptophthalmos

Clinical Characteristics
Ocular Features: 

It may be that ankyloblepharon occurs in the absence of other abnormalities but in most cases the globes are small and malformed as well.  The combination of upper and lower lid fusion associated with microophthalmia effectively precludes visualization of the globes in many cases, hence the term cryptophthalmos. Lid colobomas may be present in patients with incomplete fusion of the lid margins.  There are often adhesions between the lids and cornea while the anterior chamber may have features of Peters anomaly.  Posterior chamber abnormalities such as optic nerve hypoplasia and retinal dysplasia with other tissues such as bone may also be present.  Rarely patients may respond to bright lights.  The condition may be unilateral or bilateral. The lacrimal drainage system may be malformed or absent while the eyebrows are often missing as well.  In severe cases, the forehead skin appears to be continuous with that of the cheeks.

Cryptophthalmos is also feature of other malformation syndromes most notably that described by Fraser (219000).

Systemic Features: 

The type of cryptophthalmos described here is sometimes called simple or isolated since no systemic malformations are associated.  It should be noted, however, that other ocular abnormalities are almost always associated and the clinical features of the hidden eye are anything but isolated or simple.

Genetics

A small number of families with a vertical pattern of inheritance suggest that at least some cases are inherited in an autosomal dominant pattern but no locus has been identified.  This pattern distinguishes such cases from those with the Fraser cryptophthalmos syndrome (219000) which has an autosomal recessive pattern of inheritance.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Attempts have been made to surgically create a lid fissure but the lack of conjunctival cul de sacs and fusion of the lids to the cornea in many cases can lead to irreparable complications.

References
Article Title: 

Isolated and syndromic cryptophthalmos

Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. Isolated and syndromic cryptophthalmos. Am J Med Genet. 1986 Sep;25(1):85-98. Review.

PubMed ID: 
3099574

Strømme Syndrome

Clinical Characteristics
Ocular Features: 

The core complex of Stromme syndrome consists of intestinal atresia and ocular abnormalities of the anterior segment.  The ocular anomalies consist of variable amounts of angle dysgenesis, anterior synechiae, corneal leukoma, iris colobomas and hypoplasia, sclerocornea, cataracts, and sometimes microcornea.  However, microphthalmia, tortuous retinal vessels, and optic nerve hypoplasia may also be present.  Hypertelorism and deep-set eyes have been described.  Glaucoma has not been reported.  Only about 10 cases have been reported since Stromme 's first report in 1993.  Most patients have been too young for reliable acuity testing. 

Systemic Features: 

The phenotype is highly variable.  The ears are often large and low-set.  Microcephaly is often present along with a cleft palate and micrognathia.  The intestinal atresia seems to involve the jejunum primarily and is usually surgically correctable.  The duodenum may also be involved and intestinal malrotation has been described.  Myopathic changes in the myocardium have been seen along with small cardiomyoctes.  Microcephaly seems to be progressive.  Short stature has been noted and the amount of developmental delay is highly variable.  Renal hypodysplasia and hydronephrosis have been described.

Some patients seem to develop and function almost normally while more severely affected individuals may not live beyond early infancy or childhood.

Genetics

Compound heterozygous mutations in the CENPF gene (1q41) segregate with this condition. 

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Infants do well following intestinal surgery.  Ocular surgery has not been reported.

References
Article Title: 

Stromme Syndrome: New Clinical Features

Stromme Syndrome: New Clinical Features Bayram Ali Dorum, Irmak Tanal Sambel, Hilal Ozkan, Irfan Kiristioglu, Nilgun Koksal APSP J Case Rep. 2017 Mar-Apr; 8(2): 14. Published online 2017 Mar 18.

PubMed ID: 
5371687

Stromme Syndrome is a Ciliary Disorder Caused by Mutations in CENPF

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Rosby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Stromme P. Stromme Syndrome is a Ciliary Disorder Caused by Mutations in CENPF. Hum Mutat. 2016 Jan 28. doi: 10.1002/humu.22960. [Epub ahead of print].

PubMed ID: 
26820108

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: 

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
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