By Dr. Charles J. Bock

Down Syndrome

Down syndrome, also called Down's Syndrome or Trisomy 21, is the result of an extra copy of chromosome 21 in the cells of the body. There a number of eye findings and conditions associated with Down syndrome, which are described below.

Brushfield spots

Brushfield spots are tiny white dots seen on the iris of 90% of children with Down syndrome. They represent isolated collections of hypertrophy (growth) of normal iris tissue. They are more commonly seen in children with lighter colored irises. Similar spots are seen in up to 20% of people without Down Syndrome.

Refractive error

Refractive error is the term used to describe a patient's glasses prescription, whether it is farsighted or nearsighted, with or without astigmatism. Children with Down syndrome are more likely to have either large amounts of farsightedness or nearsightedness, and more commonly have significant amounts of astigmatism than children without Down syndrome.

Children with Down syndrome have a strong aversion to having lenses placed in front of their eyes and to having glasses on their faces. Although many children with Down syndrome need to wear glasses, we know that for some children this will be a struggle. Patience and persistence usually pay off, however, and many children will learn to wear their glasses well.

Strabismus

Strabismus is the term used to describe any misalignment of the eyes, and children with Down syndrome are at increased risk for crossing of the eyes, called esotropia. Both infantile esotropia (onset prior to six months of age) and accommodative esotropia (associated with significant farsightedness) are seen.

Nystagmus

Nystagmus is a back and forth wiggling of the eyes. Children with Down syndrome, especially those with infantile esotropia, are at increased risk of developing nystagmus.

Hypersensitivity to medications

Children with Down syndrome can be hypersensitive to some drops used to dilate the eyes, particularly atropine. We avoid the use of atropine in many children with Down syndrome, especially those with known heart problems.

Examining the child with Down syndrome

Because of the conditions described above, it is recommended that children with Down syndrome have an annual examination with an ophthalmologist, and at any time when problems are noted.

For the most part, the examination of the child with Down syndrome does not differ from that of any other child, although we do our best to limit holding the child's head and touching the face, both of which upset many children with Down syndrome. If you are aware of any special considerations that will help us to examine your child while creating the least amount of distress, please let us know.