Behind the eyes of Down syndrome

How Down syndrome affects eyes and vision

Up to 80% of children with Down syndrome experience vision issues. Between 46% and 100% of all Down syndrome patients are at risk of issues stemming from uncorrected refractive errors, glaucoma and more. 

Early diagnosis and treatment of these vision issues are necessary for individuals with Down syndrome. This will help to maximize their developmental potential.

What is Down syndrome?

Down syndrome is a genetic condition that affects both physical and mental development. One of the most recognizable traits of the condition is the unique facial features. These include upward turned, almond-shaped eyes. Those with Down syndrome also have intellectual disabilities and are often shorter in height.

Down syndrome is one of the most common chromosomal abnormalities in childhood. The abnormality lies in chromosome 21. Instead of the typical chromosome duplication, a Down syndrome individual ends up with three copies of chromosome 21. This extra genetic material results in the physical characteristics and systemic conditions associated with Down syndrome.

How Down syndrome affects vision

It’s very common for those with Down syndrome to experience vision problems. In fact, 60% to 80% of adolescent patients have vision disorders or are at risk for eye disease, according to the American Academy of Pediatrics. Other sources report that between 46% and 100% of all Down syndrome patients are at risk for a variety of eye conditions.

Down syndrome can affect vision in a number of ways. Many of the vision conditions Down syndrome patients face are not unique to the disorder. Although the complications can be higher for these individuals, they are treatable in most cases. 

It is important to identify and treat vision issues early in a Down syndrome individual. Early treatment often results in improved compliance, improved results and an overall positive effect on the developmental growth of the individual.

Eye problems in Down syndrome patients

Several areas of vision and visual function can be affected in those with Down syndrome. This includes both refractive errors and an increased risk for certain eye conditions.

Some of the most common vision issues seen in an individual with Down syndrome include the following: 

• Refractive errors such as nearsightedness, farsightedness or astigmatism 

  • Children with Down syndrome often have higher refractive errors than is age expected. Due to this, a large percentage of Down syndrome individuals need a glasses prescription.

• Challenges with accommodation (ability to focus clearly on objects)

  • Down syndrome individuals often have less efficient visual accommodative or focusing systems. A bifocal or reading prescription may be needed to support their focusing ability. 

• Amblyopia

  • Amblyopia is decreased vision in one or both eyes that is not due to eye disease. High uncorrected refractive errors and/or strabismus (eye turn) can lead to the development of amblyopia.

• Strabismus

  • People with Down syndrome often feature eye misalignment. This can include esotropia (when the eyes shift inward) and exotropia (when the eyes shift outward). Some cases of strabismus respond well to a glasses prescription, while some may require a surgical procedure. 

• Nystagmus

  • Nystagmus is characterized by involuntary jerking movements in the eyes. This is typically congenital and can have a mild to significant effect on vision. 

• Excessive tearing

  • This is due to blocked tear ducts. The constant tearing can lead to recurrent eye infections. Many tear duct blockages open spontaneously by one year of age. If persistent past one year, a surgical procedure may need to be considered.

• Blepharitis

  • Blepharitis is eyelid inflammation that causes dryness, redness and crusting along the eyelashes. Proper eyelid hygiene and topical antibiotic eye drops are the most common treatments. 

• Keratoconus

  • This is when the outer layer of the eye (cornea) bulges forward in a cone shape (the structure is usually round). Keratoconus causes thinning and a significant reduction in vision. Typically, keratoconus is treated with a rigid contact lens. Initiating contact lens wear in a Down syndrome individual may present some additional challenges. 

• Glaucoma

  • Glaucoma involves higher than normal eye pressure that can damage the optic nerve and lead to secondary vision loss. Glaucoma is uncommon in children with Down syndrome, but experts believe the risk is higher for adults.

• Cataracts

  • Cataracts cause clouding in the lens of the eye. There is a higher incidence of congenital cataracts in Down syndrome patients. Cataracts that present in childhood can lead to the development of amblyopia. 

Certain vision problems are more common than others, and not all Down syndrome patients will experience the same concerns. 

Many of the conditions listed above do not cause vision loss but need to be diagnosed and treated for the comfort of the patient. Some of the conditions outlined do have an effect on vision and vision development and must be identified in a Down syndrome individual. 

Regular eye exams are the best way to determine the needs of the patient and to develop a long-term care and treatment plan.

Eye features in Down syndrome patients

The physical features of the eyes in Down syndrome patients are unique and often easy to identify. 

Some common characteristics include:

• Almond-shaped eyes

• Upward-slanted eyelids

• Noticeable skin folds between the eyes and nose

• Brushfield spots – benign gray, white or brown speckles in the iris (the colored part of the eye)

While these features do not necessarily affect visual acuity, they may be accompanied by other vision or eye conditions.

Eye exams for people with Down syndrome

Comprehensive eye exams can be more challenging for children and adults with Down syndrome. But they are very important — especially due to the increased possibility of visual diagnoses that can occur.

The American Academy of Pediatrics recommends infants with Down syndrome be evaluated with a full comprehensive eye examination in the first six months of childhood. This evaluation will rule out vision and eye conditions that can affect the development and well being of a Down syndrome individual

A comprehensive eye exam should be performed yearly up to the age of 5. Patients should be seen biannually between 5 and 13. After 13 years of age, annual eye exams will monitor eye and vision health. 

Speak with your eye doctor about the effects on vision in Down syndrome patients if you have additional questions. Because there are numerous potential eye issues, awareness and understanding are key components in the vision care of someone with Down syndrome.

Page published on Wednesday, March 1, 2023

Page updated on Tuesday, March 7, 2023

Medically reviewed on Tuesday, January 31, 2023