Living with Gillespie syndrome
A rare condition with eye differences, low muscle tone, balance problems, and mild to moderate intellectual disability.
Understanding Gillespie syndrome
The colored part of the eye (iris) is underdeveloped, often with part of it missing in both eyes. The pupils are enlarged and do not get smaller in light. This can cause blurry vision, light sensitivity, and quick eye movements (nystagmus). The balance and movement problems come from an underdeveloped cerebellum. Other features can include spine bone differences and heart differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or underdeveloped iris (aniridia)
- Low muscle tone from birth (hypotonia)
- Poor balance and coordination (ataxia)
- Delayed development
- Intellectual disability
- Speech differences
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.
- 3Consider genetic testing
Changes in ITPR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 Aniridia Foundation International
- 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
Changes in the ITPR1 gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: aniridia cerebellar ataxia mental deficiency; aniridia-cerebellar ataxia-intellectual disability syndrome; aniridia, cerebellar ataxia and mental deficiency; aniridia, cerebellar ataxia, and intellectual disability; aniridia, cerebellar ataxia, and mental deficiency; aniridia, cerebellar ataxia, intellectual disability syndrome
Patient organizations
- Aniridia Foundation InternationalGillespie syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Gillespie syndrome.
Explore research for Gillespie syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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