Living with Corneal-cerebellar syndrome
A rare genetic nervous system condition with cloudy corneas, vision loss, balance problems, and mild intellectual disability.
Understanding Corneal-cerebellar syndrome
Clouding of the cornea (the clear front of the eye) in both eyes can severely affect vision. People also have mild intellectual disability, balance problems (ataxia), walking changes, and tremor. Facial features can differ, and there may be mild muscle stiffness. It starts in infancy or childhood. GARD notes there have been no further descriptions in the medical literature since 1985.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy corneas (corneal dystrophy)
- Vision loss
- Balance and coordination problems (ataxia)
- Intellectual disability
- Tremor
- Muscle stiffness (upper motor neuron signs)
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 National Ataxia Foundation
- 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 autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: corneal cerebellar syndrome; corneal dystrophy with spinocerebellar degeneration; der kaloustian jarudi khoury syndrome; der kaloustian-jarudi-khoury syndrome; spinocerebellar degeneration and corneal dystrophy; spinocerebellar degeneration and corneal dystrophy syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Corneal-cerebellar syndrome.
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