Vision & Down Syndrome

Down syndrome can have effects on the eye(s) which impact the proper development of vision. Eye disease is reported in 60-80% of patients with Down Syndrome including less severe problems like tear duct abnormalities to vision-threatening diagnoses such as early age cataracts (Bull et al., 2022). For this reason, particular attention should be given to eye exams for people with Down syndrome. An initial eye exam is recommended at birth as well as within the first 6 months of life (Bull et al., 2022). 

Down syndrome is associated with common characteristic features of the eyes. This includes upward slanting of the eyelids, prominent folds of skin between the eye and the nose, and small white spots present on the iris (the colored part of the eye) called Brushfield’s spots. These spots do not affect vision and can be seen in people without Down syndrome as well. 

Typical Issues

Child in eyeglasses

Eyeglasses 

Prescription eyeglasses are more common in individuals with Down syndrome than in the general population. Refractive errors, or alterations in the shape of the eye, are often the cause of vision impairment. This refractive error can result in hyperopia (farsightedness), myopia (nearsightedness), or astigmatism (a combination of both). Refractive errors can be corrected with eyeglasses or contacts.  

Cataracts 

Of greater concern are congenital cataracts (present at birth) and acquired cataracts (develop later). Cataracts appear as cloudiness in the lens of the eye. They can be large or small. If cataracts are present from early in a child’s life, then a clear image is not delivered to the brain, and the brain does not “learn” to see. If the cataract is not removed, it can result in lifelong vision impairment. This is what makes early detection of cataracts in infants and children so important. A child with Down syndrome should be evaluated at birth and referred to an ophthalmologist (a doctor who has completed training in medical and surgical care of the eye) if cataracts are detected. Regardless of the findings at birth, all children with Down syndrome should see an ophthalmologist in the first six months of life who will again test for cataracts. Individuals should continue to be followed by an ophthalmologist throughout their lifespan.  

Glaucoma 

Glaucoma occurs occasionally and causes a buildup of pressure in the eye. It can damage the optic nerve resulting in vision loss if not controlled. Proper treatment is important and may include eye drops, oral medications, laser treatment, or surgery. 

Keratoconus 

Keratoconus is an eye disease that usually occurs during or after puberty. It can cause corneal thinning or haze and blurred vision. Eyeglasses are used as an early treatment. As the disease progresses, corneal collagen cross-linking can be used. This involves a solution being applied to the eyes followed by ultraviolet light which causes new collagen bonds to form. In advanced stages, surgical options may be considered. Keratoconus is extremely common in individuals with Down syndrome.

Tear Ducts 

Many individuals with Down syndrome have tear duct abnormalities. Family or caregivers may notice frequent tearing or discharge from the eyes that becomes worse during colds. Often the first line of treatment is massage over the space between the eye and the nose (tear sac region) 2-3 times a day to attempt to open the tear duct. If the symptoms continue, the tear ducts may need to be opened by a surgical procedure. 

Blepharitis 

Blepharitis is inflammation of the eyelids. Symptoms include redness at the edge of the lids and crusting around the lashes. It may cause a feeling of dryness or burning. Treatment usually consists of eyelid hygiene and topical antibiotics. 

Other Common Issues 

Other common eye issues in individuals with Down syndrome include strabismus (one or both eyes turn inward or outward), amblyopia (“lazy eye” with vision impairment), and nystagmus (involuntary movement of the eyes). Strabismus does not necessarily cause vision impairment. It can be treated with eyeglasses, eye patching, and (in severe cases) surgery. Left untreated, strabismus can cause amblyopia. Amblyopia occurs when vision does not develop normally due to the eyes being misaligned and results in vision loss. Nystagmus is an involuntary side-to-side, up and down, or circular movement of the eyes. It typically involves both eyes. Nystagmus may go away on its own with time, be managed with eyeglasses or contacts, or (in severe cases) require surgery. 

Closeup image of pupils during vision testing

Red Reflex Evaluation

It is recommended that newborns have the red reflex evaluation to look for cataracts and assess the eyes for strabismus or nystagmus. The red reflex can be seen in “red eye” photos, which is the normal reflex of the retina when struck by direct light. If a problem is found, the infant will be referred to a pediatric ophthalmologist. Ideally, a child with Down syndrome will have their first eye exam by six months of age. After that, individuals with Down syndrome usually see an ophthalmologist every one to two years. If any eye problems are detected, they might have more frequent appointments. 

Signs and Symptoms

Some individuals with Down syndrome may not complain about their eye or vision problems. This might be because they don’t notice the problem or because they have difficulty verbalizing the issue. Signs family and caregivers should look for include squinting or closing one eye, an unusual head tilt, crossing or wandering of one or both eyes, light sensitivity, and frequent tearing or discharge. Consistent eye exams with specialists are vital because eye disorders are so common and can be difficult for pediatricians and primary care physicians to diagnose. 

Danielle Ledoux, MD Assistant in Ophthalmology at Children’s Hospital, Boston, and instructor in Ophthalmology at Harvard Medical School assisted with and reviewed the content of this article. Dr. Danielle Ledoux can be reached at dledoux@specializedpediatriceyecare.com. 
 


Additional Resources

External Resources

  • Eyecare America – The Foundation of the American Academy of Ophthalmology 
    www.eyecareamerica.org 
    Raises awareness about eye disease and care, providing free eye health educational materials and facilitating access to medical eye care 

  • Light for Sight 21 
    lightforsight.org 
    Goal is to eliminate preventable blindness among children and adolescents with Down syndrome and keratoconus