What is Microphthalmia/Anophthalmia?

Anophthalmia: an·oph·thal·mi·a (nf-thlm-)
The absence of one or both eyes, as a result of a congenital malformation (birth defect).

Microphthalmia: mi·croph·thal·mi·a (mkrf-thlm-)
An abnormally small eye or eyes, as a result of a congenital malformation (birth defect).

Anophthalmia and microphthalmia may involve one or both eyes. If it involves only one eye it is called 'unilateral'.  If it involves both eyes, it is called 'bilateral'.

What are the causes?

Some of our families know the causes of their children's anophthalmia or microphthalmia, and some do not.  Sometimes it is related to a Chomosome variation, sometimes it is related to a gene mutation.  There has also been discussion about environmental factors causing anophthlamia and microphthalmia in some (such as exposure to chemicals like Benlate).  And in some cases, the answer is just that nobody knows.  If you would like to learn more about some of the gene mutations that can be involved in A/M (such as SOX2, SIX6, and PAX6) and would like to learn about testing for these genes, visit the GeneDx website. Testing for these gene mutations may be covered by your insurance. 

What are the treatment options?

The moms of MAPS do not make medical recommendations, but we believe in sharing our experiences to help other families in making decisions relating to their children.  There are a variety of options available for children with A/M.  Some children use conformers, then progress to painted prosthetic eyes.  Some children wear scleral shells over their microphthalmic eyes. Some children have surgeries to expand their eye orbits to allow them to wear prosthetic eyes.  Some children do not wear any prosthetics at all.  The desision is a personal one that each family makes.  If you would like to talk to another family whose child is similar to yours, please contact us.