Living with Joubert syndrome with oculorenal defect
A rare form of Joubert syndrome that combines the brain features with both eye and kidney disease.
Understanding Joubert syndrome with oculorenal defect
People have the neurological features of Joubert syndrome, plus disease in the retina (the back of the eye) and the kidneys. It is noticed in newborns and infants. GARD lists blindness and eye gaps (colobomas) among the common features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Retinal dystrophy
- Blindness
- Gaps in the eye structures (coloboma)
- Low muscle tone
- Balance and coordination problems (ataxia)
- 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, genetic specialists and kidney 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); Kidney specialists (nephrologists)
- 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: arima syndrome; cerebello-oculo-renal syndrome; cerebellooculorenal syndrome; cors; dekaban-arima syndrome; joubert syndrome with bilateral chorioretinal coloboma
Patient organizations
- Joubert Syndrome & Related Disorders FoundationJoubert syndrome with oculorenal defect · United States
- National Ataxia FoundationAtaxia · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Joubert syndrome with oculorenal defect.
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