Coloboma is a rare condition that affects the development of the eye. During birth, a part of the eye fails to close completely, leaving a gap or a notch in the iris, retina, lens, optic nerve, or eyelid. It can affect one or both eyes, and can vary in size and shape.
Despite not knowing the exact cause of coloboma, it is believed that it is caused by genetic mutations or environmental factors that interfere with the normal growth of the eye. In addition to being an isolated defect, coloboma can also be a part of syndromes that affect other parts of the body, such as the CHARGE syndrome, the Cat eye syndrome, or Patau syndrome. It is also possible for coloboma to be inherited or spontaneously caused.
The symptoms of coloboma depend on the location and extent of the defect. Some common symptoms include:
A visible gap or notch in the iris, which may affect the shape and color of the pupil
Reduced vision or blindness in the affected eye, especially if the retina or optic nerve is involved
Increased sensitivity to light or glare
Nystagmus, which is involuntary eye movement
Strabismus, which is misalignment of the eyes
Ptosis, which is drooping of the eyelid
Doctors can diagnose colobomas using a slit lamp, a magnifying device that allows them to see the structures of the eye in detail. Other tests, such as:
Visual acuity test, which measures how well the eye can see
Visual field test, which measures the range of vision
Funduscopy, which uses a special camera to take pictures of the back of the eye
Ultrasound, which uses sound waves to create images of the eye
Genetic testing, which can identify the mutations or syndromes associated with coloboma
There is no cure for coloboma, but some treatments can help improve the vision and appearance of the eye. Some possible treatments include:
Glasses or contact lenses, which can correct refractive errors and protect the eye from injury
Artificial iris, which is a cosmetic device that covers the gap in the iris and matches the color of the eye
Surgery, which can repair the eyelid or the retina, depending on the type and severity of the coloboma
Low vision aids, which are devices that help the eye see better, such as magnifiers, telescopes, or electronic devices
Vision therapy, which is a program of exercises that helps the eye function better
Coloboma cannot be prevented, but some steps can be taken to reduce the risk of complications and improve the quality of life of the affected person. Some of these steps include:
Regular eye exams, which can monitor the eye health and detect any problems early
Sun protection, which can shield the eye from harmful UV rays and prevent further damage
Eye care, which can keep the eye clean and moist and prevent infections or irritations
Counseling, which can provide emotional support and coping strategies for the person and their family
Education, which can inform the person and their family about the condition and the available resources
