From the Research
Cryptophthalmos is a rare congenital birth defect characterized by the absence of eyelids, with skin continuously covering the eye, and is often associated with Fraser syndrome, a genetic disorder that can include additional abnormalities such as ear malformations, syndactyly, and urogenital defects. This condition typically presents as a smooth, uninterrupted extension of facial skin over the eyeball, without the normal eyelid structures, eyelashes, or visible eyeball. According to a study published in 2019 1, cryptophthalmos can affect one eye (unilateral) or both eyes (bilateral), with varying degrees of severity. The condition may be classified into three types: complete, incomplete, and abortive, as mentioned in a study from 1999 2.
Key Characteristics
- The skin passes continuously from the forehead to the cheek over a malformed eye
- Absence of eyelids, with or without other associated abnormalities
- Can be unilateral or bilateral, with varying degrees of severity
- Often associated with Fraser syndrome, a genetic disorder
Treatment and Management
Treatment generally involves surgical intervention to create functional eyelids and preserve vision, though outcomes depend on the underlying ocular development and associated abnormalities. A study from 2011 3 describes a two-stage reconstruction procedure for correcting upper eyelid and ocular bulb anomalies in cryptophthalmos. Another study from 2019 1 suggests a three-stage approach for reconstruction surgeries, including eyeball enucleation, creation of fornix, eyelid reconstruction with skin flaps/amniotic membrane, and implantation of prosthesis. Early diagnosis and multidisciplinary management are essential, as the condition can significantly impact vision development.
Underlying Cause
The underlying cause of cryptophthalmos is typically genetic, involving mutations that affect embryonic development of the eye and eyelid structures during the first trimester of pregnancy. A study from 2005 4 reports on a patient with characteristic features consistent with autosomal dominant bilateral complete isolated cryptophthalmos, highlighting the genetic basis of the condition.