Living with Joubert syndrome with ocular defect
A common form of Joubert syndrome that combines the brain features with a retinal disease affecting vision.
Understanding Joubert syndrome with ocular defect
Along with pure Joubert syndrome, it is the most frequent subtype. People have the neurological features of Joubert syndrome, such as low muscle tone, balance problems, and developmental delay. They also have retinal dystrophy, in which light-sensing cells in the back of the eye break down. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Retinal dystrophy (breakdown of light-sensing cells)
- Low muscle tone
- Balance and coordination problems (ataxia)
- Breathing pauses or irregular breathing
- Fast, rhythmic eye movements (nystagmus)
- Developmental delay and intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Joubert Syndrome & Related Disorders Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: joubert syndrome with retinopathy; js-o
Patient organizations
- Joubert Syndrome & Related Disorders FoundationJoubert syndrome with ocular defect · United States
- National Ataxia FoundationAtaxia · United States
You are more than your diagnosis
Perspectives from people navigating life with Joubert syndrome with ocular defect.
Explore research for Joubert syndrome with ocular defect
Explore actively recruiting Joubert syndrome with ocular defect studies with HealthSpark.
Find actively recruiting studies for Joubert syndrome with ocular defect with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Joubert syndrome with ocular defect studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Joubert syndrome with ocular defect
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Joubert syndrome with ocular defect experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.