Living with Oculorenocerebellar syndrome
A rare genetic condition affecting the eyes, kidneys, and brain, with profound intellectual disability and movement problems.
Understanding Oculorenocerebellar syndrome
Features include profound intellectual disability, unusual involuntary movements (choreoathetosis), stiffness in the legs that gets worse over time (spastic diplegia), and gradual damage to the retina. Kidney filter disease (glomerulopathy) is also described. GARD notes there have been no further descriptions in the literature since 1982. GARD lists infancy as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound intellectual disability
- Involuntary writhing movements (choreoathetosis)
- Muscle stiffness and low muscle tone
- Retina changes and optic nerve damage
- Kidney filter disease (glomerulopathy)
- Small or missing cerebellum
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.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 National Kidney 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 cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: hunter jurenka thompson syndrome; hunter-jurenka-thompson syndrome; orc (oculo-renal-cerebellar) syndrome; orc syndrome; severe oculo-renal-cerebellar syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculorenocerebellar syndrome.
Explore research for Oculorenocerebellar syndrome
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