Visual impairments are fairly common among individuals with Joubert syndrome. For instance, most are born with ocular motor apraxia, a condition that makes it hard to control eye movements but tends to improve as children mature, according to the 2019 journal article Healthcare recommendations for Joubert syndrome. Other common abnormalities, according to the article, include strabismus (aka crossed-eyes – >31% prevalence), retinal dystrophy (30% prevalence), ptosis (drooping upper eyelid – >19% prevalence) and coloboma (a gap or missing piece of eye tissue – 17% prevalence). Note: The likelihood that a particular individual will have a condition often depends on the genetic variant that caused them to have Joubert syndrome.
To learn more, visit jsrdf.org/healthcare-recommendations. Also, to see a short video about JS-related vision problems featuring Dr. Wadih Zein, visit jsrdf.org/interviews and scroll down to the bottom.
Please consider printing this one page Family Welcome Letter to distribute to new patients and their families.
Austin was a happy, healthy two-month-old and I was enjoying every second of my sweet, laid-back second child. It was during his second month that my family and I noticed that instead of making eye contact, he was looking around me. His eyes were twitching rapidly from side to side and sometimes in a circular pattern. His right eye was drifting up and out. As a nurse practitioner, I knew this was not normal. As a mom, I couldn’t believe that I had not noticed this before!
Over the next several months, we saw his pediatrician who was “not excited” but referred us to ophthalmology. The ophthalmologist said there was nothing structurally wrong with his eyes but admitted his eye movements were abnormal: nystagmus, rotary nystagmus and ocular motor ataxia. From there, Austin had an MRI and appointments with both neurology and neurogenetics. When he was 9 months old, Austin finally had a diagnosis: Joubert syndrome.
Click here to read the rest of Austin’s story and to get tips from other JS families dealing with vision issues.
Vision conditions often associated with Joubert syndrome
Reduced vision in one eye generally caused by abnormal abnormalities in the pathways between the eyes and the brain. This leads to one eye being stronger and one eye being weaker or “lazy.”
A gap or missing piece of eye tissue that occurs before birth. In children with JS, the retina or optic nerve are most commonly affected thus causing some degree of visual impairment.
A rare genetic disorder affecting the retina often causing blindness. Affected infants may display strabismus, nystagmus, photophobia (sensitivity to light) and other eye abnormalities. JS and LCA have overlapping eye symptoms.
Night blindness is a symptom of retinal dystrophy. Other related terms include nyctalopia and cone-rod dystrophy. Individuals cannot see well in dark or dim environments and their peripheral vision is generally poor.
Rapid, involuntary eye movement. This frequently is described as rapid eye twitching or rolling.
A condition that makes it difficult to make purposeful eye movements.
Drooping of the upper eyelid that may or may not affect vision.
Abnormalities in the shape of the eye that lead to blurred vision. The most common errors are called myopia (nearsightedness), hyperopia (farsightedness), presbyopia (loss of near vision with age) and astigmatism (abnormality in the shape of the cornea).
A degenerative disease that can be apparent at birth or lead to a progressive decline in vision. It can cause low vision in darkness (night blindness) or eventual blindness.
Or crossed eyes: A vision condition where the eyes look in different directions and do not focus simultaneously on a single point.
A health care professional who provides vision care including eye exams, vision testing and providing prescriptions for corrective lenses. An optometrist can also detect some eye abnormalities and prescribe medications for certain eye conditions.
A medical or osteopathic doctor who specializes in eye and vision care. Ophthalmologists differ from optometrists in their levels of training and in what they can diagnose and treat. An ophthalmologist can diagnose and treat all eye diseases, provide prescriptions for corrective lenses, perform eye surgeries and may be involved in scientific research about visual conditions.
A test that assesses the electrical response of the light-sensitive cells (rods and cones) of the retina to determine the overall health and function of the retina.
A technique used to take pictures of the retina to detect and diagnose retinal conditions.
A type of therapy that aims to improve vision. It often uses therapeutic lenses, prisms or patches to improve how visual information is interpreted by the brain.
Most states have a school for the blind and visually impaired as well as a foundation for blind children. Search online to determine what is available in your state.
- American Council of the Blind: www.acb.org
- American Foundation for the Blind: www.afb.org
- Center for Parent Information and Resources: www.parentcenterhub.org/visualimpairment/#teachers
- College of Optometrists in visual development (to find an eye doctor or vision therapist): http://locate.covd.org/
- Disability awareness and sensory education toys: https://specialneedstoys.com/usa
- Family Connect: https://familyconnect.org
- IRIS Center, Setting up a Classroom for Students with Visual Disabilities: https://iris.peabody.vanderbilt.edu/module/v01-clearview/
- National Braille Association: www.nationalbraille.org
- National Eye Institute, National Institutes of Health: www.nei.nih.gov
- National Organization of Parents of Blind Children Division: https://nopbc.org
- Teaching visually impaired: www.teachingvisuallyimpaired.com
- Visual stimulation applications for iPad:
- EDA Play Toby: Application inspired by the development of children’s vision and by exercises that support vision skills development.
- Onni & Ilona: Happy Animals is specifically designed to support early development of eyesight in babies aged 0-12 months.