Cryptophthalmos is a rare congenital anomaly in which the

skin Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other cuticle, animal coverings, such as the arthropod exoskeleton, have diffe ...

is continuous over the eyeball with absence of

palpebral fissures The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open eyelids. In simple terms, it is the opening between the eyelids. In adult humans, this measures about 10 mm vertically and 30 mm horizontally. Var ...

and presence of eyelashes. It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying

cornea The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power ...

and

microphthalmia Microphthalmia (Greek: grc, μικρός, mikros, small, label=none, grc, ὀφθαλμός, ophthalmos, eye, label=none, also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both ( ...

. Cryptophthalmos usually occurs on both sides and occurs in association with multiple other malformations collectively referred to as

Fraser syndrome Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder, identified by several developmental anomalies. Fraser syndrome is named for th ...

. Along with microphthalmia (small or underdeveloped

globe A globe is a spherical model of Earth, of some other celestial body, or of the celestial sphere. Globes serve purposes similar to maps, but unlike maps, they do not distort the surface that they portray except to scale it down. A model globe ...

), it may be associated with a tuft of hair.

Signs and symptoms

Complete cryptophthalmos is the most severe form of Cryptophthalomos. Complete cryptophthalmos is characterized by complete occlusion of the eye sockets and fusion of the skin on the forehead and cheeks. Those with Complete cryptophthalmos have no eyebrows, gland structures, or eyelashes. They also lack a connjunctival sac and the overlying skin fuses with the cornea. Other deformities of the globe are often seen alongside Complete cryptophthalmos. Those with incomplete cryptophthalmos still have rudimentary eyelids as well as laterally placed small conjunctive sacs. Undeveloped parts of the eyelid still fuse to the malformed globe. The eye globe is typically smaller and covered by skin. In incomplete cryptophthalmos, the palpebral fissure is about a third of the typical length. Occular cysts can develop in both complete and incomplete forms of cryptophthalmos. Abortive cryptophthalmos is characterized by the absence of the upper eyelid as well as 75% of the cornea adhered to and covered by the forehead skin. The eye globe size often varies in Abortive cryptophthalmos.

Diagnosis

Ultrasound technology is able to detect cryptophthalmos around 18 weeks of gestation. Ultrasound will show a lack of palpebral fissure between the lower and upper eyelids. The skin from the cheek and forehead appears continuous on an ultrasound.

Treatment

There is not much potential for perfect vision in cryptophthalmos, therefore treatment is mostly focused on the reconstruction of the eye. Surgery can be used to separate fused eyelids and restore some function. When surgery is not possible prosthetic eyelids may be used.

References

External links

{{Congenital malformations and deformations of eye Congenital disorders of eyes