Anophthalmia

Anophthalmia
ICD-10	Q11.0-Q11.1
DiseasesDB	29617
eMedicine	oph/572

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Anophthalmia, also known as anophthalmos (Greek: ανόφθαλμος, "without eye"), is the congenital absence of one or both eyes.

Prevalence

True or primary anophthalmos is very rare. Only when there is complete absence of the ocular tissue within the orbit can the diagnosis of true anophthalmos be made. Extreme microphthalmos is seen more commonly. In this condition, a very small globe is present within the orbital soft tissue, which is not visible on initial examination.

There are three classifications for this condition.

• Primary anophthalmia is a complete absence of eye tissue due to a failure of the part of the brain that forms the eye.
• Secondary anophthalmia the eye starts to develop and for some reason stops, leaving the infant with only residual eye tissue or extremely tiny eyes which can only be seen under close examination.
• Degenerative anophthalmia the eye started to form and, for some reason, degenerated. One reason for this occurring could be a lack of blood supply to the eye.

Causes

Anophthalmia and microphthalmia may occur secondary to the arrest of development of the eye at various stages of growth of the optic vesicle. It is important to recognize microphthalmia because the development of the orbital region, as well as the lids and fornices, is dependent on the presence of a normal-sized eye in utero.

Treatments

Early treatment with various expanders or surgery, when necessary, will help decrease the orbital asymmetry and cosmetic deformities in these children.

External links

• Anophthalmia and Microphthalmia Resource Guide from the National Eye Institute (NEI).
• anophthalmia-ov at NIH/UW GeneTests

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