Cryptophthalmos

Cryptophthalmos is a rare congenital disorder characterized by the absence of eyelid formation. The condition can be unilateral, affecting one eye, or bilateral, affecting both eyes. Cryptophthalmos is often associated with Fraser syndrome, a rare genetic disorder.

Etiology

The exact cause of cryptophthalmos is not known. However, it is believed to be associated with mutations in the FRAS1 gene, which is also associated with Fraser syndrome. The FRAS1 gene provides instructions for making a protein that is involved in the development of the skin and its appendages, including the eyelids.

Clinical Presentation

Patients with cryptophthalmos present with a continuous layer of skin covering the eye where the eyelids should have formed. The severity of the condition can vary, with some patients having a small amount of eyelid formation and others having no eyelid formation at all. In severe cases, the cornea may be completely absent. Other ocular abnormalities, such as microphthalmia (small eyes), anophthalmia (absence of the eye), and coloboma (a hole in the eye), may also be present.

Diagnosis

Diagnosis of cryptophthalmos is typically made at birth due to the obvious physical abnormalities. Genetic testing can be performed to confirm the diagnosis and identify any associated syndromes.

Treatment

Treatment of cryptophthalmos is primarily surgical and aims to create a functional eyelid. This can be a complex procedure and often requires multiple surgeries. In some cases, a prosthetic eye may be necessary.

Prognosis

The prognosis for patients with cryptophthalmos varies depending on the severity of the condition and any associated abnormalities. With appropriate treatment, many patients can achieve functional vision. However, in severe cases, the condition can lead to blindness.

See Also

• Fraser syndrome
• Microphthalmia
• Anophthalmia
• Coloboma

Cryptophthalmos Resources
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