Anophthalmia refers to the congenital absence of one or both eyes. Microphthalmia, on the other hand, is the congenital condition where one or both eyes are smaller than normal. These eyes may sometimes have a limited degree of vision, but depending on the severity of the condition, individuals may not have any vision at all. In U.S. statistics, anophthalmia or microphthalmia is observed in approximately one child out of every 5,200 births. It can affect one eye (unilateral) or both eyes (bilateral).
What are the reasons?
The exact causes of anophthalmia and microphthalmia in many babies are not known. However, the following conditions can be considered among the causes of anophthalmia:
● Changes in genes and chromosomes.
● Use of certain medications during pregnancy (such as Isotretinoin, Thalidomide).
● Exposure to X-rays during pregnancy.
● Exposure to radiation.
● Taking or being exposed to certain chemicals.
● Contracting certain viral infections during pregnancy.
How is the diagnosis of anophthalmia or microphthalmia made?
During the pregnancy, anophthalmia/microphthalmia can be detected through prenatal ultrasound. After birth, families often notice it themselves and bring their child to us. The diagnosis of anophthalmia/microphthalmia can typically be made through a simple eye examination. However, sometimes we may request further tests like MRI or tomography to obtain more detailed information about the orbit.
How does the development of the eye and its surroundings occur in these children?
Firstly, it’s important to note that the eye, eyelids, eye surroundings, eyebrows, eyelashes, and the eye socket, known as the orbit, all develop together. The absence of one of these tissues significantly affects the development of the others. Therefore, the absence of an eye can result in insufficient development of the bones around the eye, leading to a narrow eye socket and underdeveloped eyelids. Eyebrows may be short or even absent, and the facial development on that side may be weak, resulting in facial asymmetry.
What is the treatment for anophthalmia or microphthalmia?
First and foremost, it is crucial for these children to be seen by an ophthalmologist, especially one who specializes in oculoplastic surgery, at a very early stage for evaluation and treatment planning. This is because both the treatment and follow-up process are lengthy, and the child needs to be monitored until their facial development is complete.
Is surgery the only treatment, or are there other options?
First, it’s necessary to perform an orbital CT scan to assess the eye and orbital bone structures and check for any other congenital anomalies. Then, a surgical plan is developed. In the surgery, a material called an expander, which creates volume, is placed in the orbit (the eye socket) to support the development of the eye socket and eyelids. This material is inserted during the surgery and has the property of expanding when filled with fluid, thus aiding in the development of orbital bone structure and eyelids. In a way, it fulfills the function of the eye that cannot see in terms of volume.
Is there anything else needed after surgery?
After surgery, we provide patients with temporary prostheses (Conformers) that match the structure of their eyes. These prostheses are temporary because as the child grows, they will need larger prostheses that fit their eye better. We typically schedule check-ups every 3 months. If the prosthesis becomes too small, we immediately prepare and attach new, larger prostheses. This process continues until the eye and eyelid development is complete.
When can a permanent prosthesis be installed?
Our goal is usually to fit a permanent prosthesis that matches the color and size of the other eye before the child starts elementary school. This time frame is typically around 5-6 years of age.
If none of these procedures are done, can a prosthesis be installed after the child grows up?
Of course, we do not leave these patients untreated. However, the process becomes more challenging, and unfortunately, we cannot achieve the desired final outcome. To fit prostheses and prepare the eye socket for these patients, multiple surgeries are required. Nevertheless, reaching the size of the other eye remains quite difficult.