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Growing up with a MACS condition - My story

Throughout my life I was told that I wouldn’t be able to do things because of my eye and no one other than my parents encouraged me to try. This is my story of how I proved them all wrong!

I was diagnosed with Microphthalmia when I was 6 weeks old at my local hospital, though medical staff had suspected as much when I was 11 days old, yet didn’t think this was something my parents needed to know at the time...

Fearing the unknown and not knowing what was in store for their new-born daughter and our family, we found MACS. It was through MACS that we were exposed to this new side of Microphthalmia and what it meant to me. A side with hope.

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Articles of Interest

A practical guide to the management of anophthalmia and microphthalmia

Congenital anophthalmia and microphthalmia are rare developmental defects of the globe. They often arise in conjunction with other ocular defects such as coloboma and orbital cyst. They may also be part of more generalised syndromes, such as CHARGE syndrome. Anophthalmia, microphthalmia, and coloboma are likely to be caused by disturbances of the morphogenetic pathway that controls eye development, either as a result of primary genetic defect, or external gestational factors, including infection or drugs that can influence the smooth processes of morphogenesis.

Anophthalmia and Microphthalmia (Missing or Small Eyes)

With anophthalmia and microphthalmia, one or both eyes is missing (in the case of anophthalmia) or abnormally small (microphthalmia) at birth. They are rare birth defects that may co-exist with other abnormalities that developed during pregnancy.

Anophthalmia And Microphthalmia: All You Need to Know

Microphthalmia and Anophthalmia are eye diseases in which there is a decrease in the size of an eye along with other problems such as, malfunctioning of the eye in the orbit and absence of an eye respectively.

At a glance: Anophthalmia and Microphthalmia

Babies and children with anophthalmia or microphthalmia may need special devices called conformers to help their eye socket grow and develop. They may also wear a prosthetic eye to change how they look and help their eye socket grow.

Genetic Mutation May Cause Some forms of Anophthalmia/ Microphthalmia

Now, researchers at University of Michigan and UC Davis have found a genetic mutation that explains why some children are born without eyes or with small eyes (microphthalmia). To put it simply, the mutation blocks retinol, a form of vitamin A essential for normal eye development, from reaching the developing embryo while the mother is pregnant.

Microphthalmia

Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all.

The Role of Ocularist in the Management of Congenital Anophthalmia and Microphthalmia

Customised Ocular Prosthesis fabrication is a mandatory requirement for children with anophthalmia and microphthalmia. This treatment will include serial socket expanders with the help of conformers. Conformers are made of clear plastic and are fitted into.

Resources

International Children's Anophthalmia Network

The International Children’s Anophthalmia & Microphthalmia Network (ican), a voluntary not-for-profit organization, is a group of families and professionals dedicated to lending support to individuals who want to learn more about microphthalmia and anophthalmia (eyes that are abnormally small, completely absent, or consist only of vestigial portions).

MACS

Our vision is of a world where all people affected by MACS conditions enjoy the same opportunities as everyone else. That’s why we work hard to ensure that all of our services are accessible to anyone affected by a MACS condition, regardless of their impairments, ethnicity, beliefs, sexuality, gender reassignment status, marital/civil partnership status and maternity status.

CDC

Anophthalmia and microphthalmia are birth defects of a baby’s eye(s). Anophthalmia is a birth defect where a baby is born without one or both eyes. Microphthalmia is a birth defect in which one or both eyes did not develop fully, so they are small.