INTRODUCTION Cryptophthalmos syndrome is a rare congenital anomaly that manifests with varying degrees of completeness. It can be unilateral or bilateral. The condition occurs as an isolated anomaly in 20% of cases, whereas about 40% are familial. Cryptophthalmos can be seen with multiple congenital systemic malformations such as in Fraser syndrome where it is seen in 80% of affected individuals. Here it is associated with renal agenesis, laryngeal atresia, pulmonary hypoplasia, syn-dactyli, and low set ears. Such cases have been referred to as cryptophthalmos syndrome. They usually show an autosomal recessive pattern of inheritance, although several cases of dominant inheritance have been reported.
CLINICAL CHARACTERISTICS In cryptophthalmos the palpebral fissures are missing to varying degrees.
The underlying globe is incompletely developed, showing early arrest in development of the anterior segment. The cornea is opaque. Various internal structural elements of the eyelid, such as tarsus, orbicularis, levator aponeurosis, and conjunctiva, as well as the brows may be missing. Several types of cryptophthalmos have been described showing different degrees of eyelid formation. In complete cryptophthalmos the lids and brows are absent and a sheet of skin extends over the disrupted eyes from forehead to cheeks. In incomplete cryptophthalmos the palpebral fissure may be partially formed while portions of the lids are not developed and fused to the globes. In abortive cryptophthalmos (congenital symblepharon) the lids and fissure are better developed but partially fused to the globe.
TREATMENT Infants with the syndromic form of cryptophthalmos often die at birth from associated pulmonary and laryngeal malformations. In less severe and isolated cases abnormalities of the eye preclude visual rehabilitation, but surgical repair of the eyelids may be desired for improved cosmesis. Because of the absence of structural elements of the lid, reconstruction is challenging and difficult. Skin and mucous membrane grafts can sometimes lead to an acceptable result. In the symblepharon variant, lysis of the adhesions with a mucous membrane or amniotic membrane graft may restore function to the lid.
Was this article helpful?
All wart sufferers, this is the day to stop the shame. How I Got Rid Of My Warts Forever and How You Can Get Rid Of Warts Naturally In 3 Days. With No Blisters, No Scars, And No Pain Without medications or expensive procedures. All by applying a simple, very natural and unbelievable FREE substance that can be found in almost every household.