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.

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

References

Saal HM, Traboulsi EI, Gavaris P, Samango-Sprouse CA, Parks M. Dominant syndrome with isolated cryptophthalmos and ocular anomalies. Am J Med Genet. 1992 Jul 15;43(5):785-8. Review.

PubMedID: 1642262

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.

PubMedID: 3099574