Norrie Disease

What Is Norrie Disease?

Norrie disease is an inherited condition found in males and characterized by an abnormal or immature retina (light-sensitive nerve tissue lining the back of the eyes) and possible deteriorating irises (colored portion of the eyes) and eyeballs. The baby will be born blind or develop severe vision loss soon after birth. Infants and children with Norrie disease frequently also have cataracts.

According to Genetic Home Reference, one-third of those with Norrie disease develop progressive hearing loss, and many are also delayed in gross motor skill development. Additional disabilities may also accompany Norrie, including intellectual disability or other medical issues.

How Is Norrie Disease Diagnosed?

Parents may notice a lack of eye contact and visual responsiveness and possibly a white or gray disk (leukocoria) in the center of the child’s eyes in a flash photograph and will have their child assessed by an ophthalmologist. In a dilated eye exam, the ophthalmologist will note that the retina has accumulated masses of immature cells and may be detached from the back of the eyeball and will diagnose Norrie disease. Genetic testing can confirm diagnosis.

Further tests will be administered to detect any accompanying hearing loss or medical issues.

Are There Treatments for Norrie Disease?

If the child has remaining vision, surgery or laser therapy may be an option to save vision. Hearing loss can be treated with hearing aids or cochlear implants. Additional therapy and medication may be available for accompanying medical issues.

How Would You Describe the Eyesight of Norrie Disease and How Will My Child Function with It?

If your child has both vision and hearing loss, he or she will have difficulty communicating with the general population and will have to intentionally combat social isolation. Your child’s educational team of professionals will assess your child and implement strategies to help your child function despite these difficulties. Strategies and tools may include sign language and use of communication technology.

To learn about your child’s hearing loss, please visit Hearing Loss Association of America.

Regarding your child’s visual impairment, your child’s teacher of students with visual impairments should perform a functional vision assessment to determine how your child uses available vision and a learning media assessment to determine which senses your child primarily uses to get information from the environment. These assessments, along with an orientation and mobility assessment conducted by a mobility specialist, will give the team information needed to make specific recommendations for your child to best access learning material and his or her environment.

You may learn your child has little to no useful vision and must be taught to accomplish tasks without the use of vision. If this is the case, your child may benefit from travel training from a mobility specialist. A teacher of students with visual impairments can provide instruction in braille, use of screen-reading software to use the computer, and other techniques for performing life skills and academic tasks.

Resources for Families of Children with Norrie Disease