The Conditions
What is Anophthalmia?
Anophthalmia is the absence of one or both eyes.
More specifically, it is a condition defined as the absence of the globe and ocular tissue from the orbit of one or both eyes.
Anophthalmia is rare, but between 60 and 70 children in the UK are born with it each year. Some of the children are affected by additional physical disabilities.
In an anophthalmic eye there is total blindness.
What Can be Done?
A baby with anophthalmia will need to have specialist medical attention immediately. The ocular orbits or eye sockets are very important in facial development. If the eye is missing or too small, the face will not grow properly. The insertion of plastic conformers and artificial eyes as early as possible enables the growth of the eye socket and the bones in the child’s face to develop normally - as well as helping aesthetically.
Later, as the child gets older and the eye sockets and facial bones develop, an ocularist can make prosthetic eyes. Each child is different, so the age when a child is ready for a prosthetic eye varies.
Researchers are currently working on identifying the gene or genes related to the development of the eye. Finding these genes might give information about anophthalmia and enable geneticists to provide more accurate counselling and advice about the risks of recurrence.
What is Microphthalmia?
Microphthalmia is the condition of a very small eye or eyes.
Microphthalmia (microphthalmos) is a very similar congenital condition to anophthalmia, but in which the eye or eyes stop growing during pregnancy, leaving the infant with a small eye or eyes. The size of the eye will vary from child to child. If very mild, it can almost go unnoticed, but it is usually fairly obvious. There is also extreme microphthalmia, which is almost the same as anophthalmia.
Complex Microphthalmia is where an eye that is small has been found to have additional problems. These can include a cataract (clouding of the lens), Coloboma (see below), or an orbital cyst. The degree of vision is dependent on the extent and location of these conditions.
The terms Anophthalmia and Microphthalmia are often interchangeable as CT or MRI scans show some remnants of either the globe or surrounding eye tissue in most cases. Anophthalmia and Microphthalmia can affect only one eye with the other eye being normal, or both eyes, resulting in blindness.
What is Coloboma?
A Coloboma is a gap in any part of the structure of the eye.
This gap can be of any size but is usually in the bottom part of the eye.
Coloboma can affect one or both eyes - known as unilateral or bilateral - and can affect a number of different parts of the eye. A coloboma doesn’t mean there is a hole in the eye, but that certain structures or parts within the eye are not fully formed.
A coloboma can affect the iris, which is the coloured part at the front of the eye, or the lens, which is the part of the eye that helps focus light onto the retina.
A Coloboma can also affect the choroids, the network of thin blood vessels that help keep the retina healthy. Lastly it can affect the retina itself, at the back of the eye. Very rarely Coloboma will affect the optic disc or the eyelid.
This condition occurs in about 1 in 10,000 births.
What Causes Anophthalmia, Microphthalmia and Coloboma?
Anophthalmia, Microphthalmia and Coloboma are the result of damage to the developing eye in the embryo at the beginning of the pregnancy. The eyes normally develop between the fourth and fifteenth week of pregnancy, though development is usually completed around 8 to 10 weeks.
According to recent research carried out at Oxford University, most cases of these conditions are congenital, and are present at birth, but can sometimes develop later in life.
Congenital Anophthalmia can occur alone or along with other birth defects. Anophthalmia may also result from sporadic genetic mutations, chromosome abnormalities, prenatal environmental damage or other unknown factors.
Some cases have external causes such as damage to the eye resulting from medication taken by the mother in early pregnancy.
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