Anophthalmia and Microphthalmia

Condition Description

Microphthalmia is an eye condition that happens before birth. In this condition, one or both eyeballs are abnormally small. In some individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. There is no cure for these conditions, but many treatments are available. No treatment is needed for mild or moderate microphthalmia. Prosthetics will be used in anophthalmia as well as surgery to expand the palpebral fissures (opening of the eye between the upper and lower lids) and orbit (boney eye socket). Reconstructive surgery is typically performed a bit later in childhood to allow growth of the facial bones, although there may be some preliminary surgeries done earlier. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. Microphthalmia occurs in approximately 1 in 10,000 individuals.

Using data from Minnesota births between 2014-2018, we found 51 babies were born with anophthalmia & microphthalmia, resulting in a rate of 1.5 babies per 10,000 births. Annually, about 10 babies were born with anophthalmia & microphthalmia.

Parental education and support are essential, and local, regional, and national organizations may be very helpful. 

Condition specific organizations

• Genetics Home Reference
• Facts about Anophthalmia / Microphthalmia | CDC