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Inheritance

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Medical Information

Cryptophthalmos

Background and History

This condition consists of a severe malformation of the eyelids and eyeballs.

Clinical Correlations

The basic condition involves fusion of the upper and lower eyelids called ankyloblepharon.  The skin of the forehead can appear continuous with that of the cheeks with no evidence of eyebrows or eyelashes.  However, in many cases the lids are partially formed.  The eyeballs are usually small and malformed as well.  This combination hides the eyes, a condition called cryptophthalmos.  It is sometimes associated with other malformations such as may be seen in the Fraser syndrome.  It may be unilateral or more often bilateral. 

Genetics

Cryptophthalmos has been found in multigenerational families in a pattern consistent with autosomal dominant inheritance in which it is passed from parent to child directly.

Diagnosis and Prognosis

An ophthalmologist is usually the one to make the diagnosis. When cryptophthalmos occurs in the absence of malformations elsewhere in the body, the prognosis for life is good.  However, blindness is common.  Surgical attempts to create an opening between the upper and lower lids frequently fail because the eye itself is malformed or it is fused to the inside of the eyelids.