What is Anophthalmia

Definitions

 

 

 

T2-weighted MR scan of a patient with unilateral anophthalmia.

MRI orbital MRI anophthalmosis

 

Note the presence of amorphous tissue and structures resembling extraocular muscles within the anophthalmic right orbit. The right optic nerve/chiasm junction appears attenuated rather than absent suggesting possible residual optic nerve neural tissue

There are three classifications for this condition:

Etiology

  1. Anophthalmia ( A medical term used to characterize the absence of the globe and ocular tissue from the orbit ) can be congenital (present at birth) or acquired later in life. Congenital anophthalmia can occur alone or along with other birth defects. Cases of Anophthalmia could lead to from inherited genetic mutations, sporadic genetic mutations, chromosome abnormalities, prenatal environmental insult or unknown. 
  2. 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.
  3. Anophthalmia and microphthalmia could 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. Anophthalmia is may be a clinical characteristic of Trisomy 13 which is a Gross Chromosomal Abnormality.

     (Anophthalmia is very rare but the exact incidence is unknown. One report from a prospective study of 50,000 newborns found an incidence of microphthalmia of 0.22 per 1,000 live births)

Demographics & Movie