Anophthalmos

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Anophthalmos

Anophthalmos (pronunciation: an-off-thal-mos) is a severe form of ocular malformation where there is a complete absence of ocular tissue in the orbit.

Etymology

The term Anophthalmos is derived from the Greek words 'an' meaning 'without' and 'ophthalmos' meaning 'eye'.

Definition

Anophthalmos is a rare congenital condition characterized by the absence of one or both eyes. It is often associated with other systemic anomalies and can be part of a syndrome.

Types

There are two types of Anophthalmos:

  • Congenital Anophthalmos: This is when the condition is present at birth. It can be caused by genetic mutations or environmental factors during pregnancy.
  • Acquired Anophthalmos: This is when the condition develops later in life, often as a result of trauma, infection, or surgery.

Symptoms

Symptoms of Anophthalmos can include:

  • Absence of one or both eyes
  • Small or underdeveloped eye socket
  • Droopy eyelid (Ptosis)
  • Absence of the optic nerve

Diagnosis

Diagnosis of Anophthalmos is typically made through a comprehensive Ophthalmologic examination. Genetic testing may also be performed to identify any potential genetic causes.

Treatment

Treatment for Anophthalmos primarily involves the use of prosthetic eyes to improve appearance and promote socket growth. In some cases, surgery may be required to enlarge the eye socket or correct other abnormalities.

Related Terms

  • Microphthalmos: A condition where the eye is abnormally small but some ocular tissue is present.
  • Cryptophthalmos: A rare condition where the skin of the forehead or cheek extends over the eye, giving the appearance of a missing eye.
  • Ocular Prosthesis: An artificial eye used to replace an absent natural eye.

External links

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