Microphthalmos

Microphthalmos is a developmental disorder of the eye in which one or both eyes are abnormally small and have anatomic malformations. The condition is usually present at birth and is often associated with other eye abnormalities.

Causes

Microphthalmos can be caused by genetic mutations or by environmental factors. The most common genetic causes are mutations in the SOX2, OTX2, PAX6, and CHX10 genes. Environmental factors that can cause microphthalmos include exposure to certain drugs or chemicals during pregnancy, such as thalidomide, alcohol, or retinoic acid.

Symptoms

The primary symptom of microphthalmos is a noticeably smaller than normal eye. The condition can also cause other eye abnormalities, such as cataract, glaucoma, or retinal detachment. Some people with microphthalmos also have other systemic abnormalities, such as intellectual disability or hearing loss.

Diagnosis

Microphthalmos is usually diagnosed at birth by a physical examination of the eyes. Additional tests, such as an ultrasound of the eye, may be used to confirm the diagnosis and to detect any other eye abnormalities. Genetic testing may also be performed to identify the cause of the condition.

Treatment

There is no cure for microphthalmos, but treatment can help manage the symptoms and prevent complications. Treatment options include corrective glasses or contact lenses to improve vision, surgery to correct other eye abnormalities, and prosthetic eyes to improve the appearance of the eye.

Prognosis

The prognosis for people with microphthalmos varies depending on the severity of the condition and the presence of other eye or systemic abnormalities. Some people with microphthalmos have normal vision, while others may have severe vision loss or blindness.

See also

• Anophthalmia
• Coloboma
• Nanophthalmos