Medical Monday: Eye Conditions Frequently Experienced with Down Syndrome

Wyatt and his beautiful baby blues

Like many new parents of a child with Down syndrome, we were referred to an eye specialist for early testing. I was unsure what to expect and was generally unaware of the variety of eye/vision issues that a child with Trisomy 21 could potentially experience in their lifetime. We were seen by both an opthomologist (a physician who specializes in diseases of the eye) and an orthoptist (a professional who primarily specializes in the functioning of the muscles of the eye). This list was compiled in the interests of self-education and is shared now for those of a similar mindset. As stated earlier, it is by no means comprehensive. Any or all concerns that you may have about your child should be discussed with your physician.

Eye conditions often experienced by those with Down syndrome (Trisomy 21) can include (but are not limited to) the following:

Conditions corrected using glasses or contacts (and in some cases, minor surgery)

Strabismus
Often referred to as "lazy eye", strabismus is a condition where the eyes do not line up properly. This is usually due to the muscles of the eye not operating together to focus both eyes on a single point.

Hypermetropia
"Longsightedness" is generally the term used to describe this condition. Hypermetropia occurs when the lens of the eye is unable to focus properly on near objects. The lens is unable to focus properly which results in a blurry image..

Myopia
Myopia, more commonly known as "nearsighted" also is due to the lens being unable to focus properly, this time on objects that are far away. The lens of the eye is unable to focus the image on the retina, causing blurred vision unless looking at close objects.

Astigmatism
When either the lens or the cornea of the eye is curved or tilted, the image may be blurry due to a condition known as astigmatism.

Presbyopia
An age related condition, presbyopia is the gradual loss of the ability to focus on near objects.

"Weak accommodation"
This term describes the condition where the individual has difficulties focusing on near objects in addition to being near-sighted or far-sighted. This may occur with or without the use of glasses.

Eye Conditions Treated with Medication

Nystagmus
This condition is characterized by small involuntary eye movements that may appear jerky in nature. While tracking a moving object, the eye is observed jerking back occasionally as the eye moves in one direction. This irregular eye movement is called nystagmus.

Blepharitis
Blepharitis is the term given to a chronic inflammation of the eyelid. The inflammation can be caused by a variety of sources including dry skin and excreted oils, parasites and bacteria. A daily cleaning regimen helps prevent infections that need antibiotic treatment.

Additionally, people with Down syndrome can often experience watering eyes and recurrent eye infections

Eye Conditions Treated by Medication or Surgery

Glaucoma
Glaucoma is a progressive condition where damage to the optic nerve is caused by increased pressure in the eye. Glaucoma may be managed by medication initially, yet surgical intervention may be required.

Cataracts
A cataract is a clouding of the lens of the eye; a progressive condition that will eventually lead to blindness if not treated. These are removed surgically.

Keratoconus
With this condition, the cornea of the changes shape and eventually becomes cone-shaped rather than a gentle curve when the eye is viewed from the side. Keratoconus will cause blindness if left untreated. In the initial stages this is addressed with contact lenses that adhere to the cornea, changing its shape. Eventually, surgical intervention may be needed. Progression of this condition is very rapid in those with Down syndrome.

As with any list of "things that can occur with Down syndrome", some individuals may have some, or none of the above conditions. It is also noteworthy that all of the above conditions are easily treated and occur spontaneously in the general population as well.