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

Human eye

The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...

s.

Prevalence

True or primary anophthalmos is very rare. Only when there is complete absence of the ocular

Human eye

The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...

 tissue

Tissue (biology)

Tissue is a cellular organizational level intermediate between cells and a complete organism. A tissue is an ensemble of cells, not necessarily identical, but from the same origin, that together carry out a specific function. These are called tissues because of their identical functioning...

 within the orbit

Orbit (anatomy)

In anatomy, the orbit is the cavity or socket of the skull in which the eye and its appendages are situated. "Orbit" can refer to the bony socket, or it can also be used to imply the contents...

 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
  Brain
  The brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
  
   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 small 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 and Types

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 upon the presence of a normal-sized eye in utero. Anophthalmia is sometimes a clinical characteristic of Trisomy

Trisomy

A trisomy is a type of polysomy in which there are three copies, instead of the normal two, of a particular chromosome. A trisomy is a type of aneuploidy .-Description and causes:...

 13 (Patau syndrome

Patau syndrome

Patau syndrome, also known as trisomy 13 and trisomy D, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a nondisjunction of chromosomes during meiosis. Some are caused by Robertsonian translocations...

) which is a Gross Chromosomal Abnormality.

TYPES: Consecutive anophthalmia, primary anophthalmia, and secondary anophthalmia.

Treatments

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

External links

• MAPS Parent Support group for parents with Anophthalmic and Microphthalmic children
• http://www.anophthalmia.org/ ICAN - International Children's Anophthalmia and Microphthalmia Network
• Anophthalmia and Microphthalmia Resource Guide from the National Eye Institute (NEI).
• GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
• MACS The Micro and Anophthalmic Children's Society - Offers support and Information to families in the UK and around the world
• ABC News video of Brielle Garrison, a young infant born with the condition.