From the Research
Gillespie syndrome is a rare genetic disorder characterized by partial absence of the iris (aniridia), cerebellar ataxia, and intellectual disability, with the most recent and highest quality study confirming its association with mutations in the ITPR1 gene 1. The condition typically presents with eye abnormalities, including partial aniridia, which can lead to light sensitivity and vision problems. The cerebellar ataxia component affects movement coordination, causing unsteady gait, poor fine motor skills, and speech difficulties. Intellectual disability varies in severity among affected individuals.
Key Features of Gillespie Syndrome
- Partial absence of the iris (aniridia)
- Cerebellar ataxia
- Intellectual disability
- Autosomal recessive inheritance pattern
- Mutations in the ITPR1 gene The diagnosis of Gillespie syndrome should be considered in any hypotonic child presenting with bilateral but partial aniridia, and genetic testing can confirm the diagnosis and provide information on recurrence risks for family members 1.
Management and Treatment
- Supportive care, including special education, physical therapy, occupational therapy, and ophthalmological interventions to address vision problems
- No cure for Gillespie syndrome, but management of symptoms can improve quality of life
- Genetic counseling for families to discuss recurrence risks and reproductive options It is essential to prioritize the management of symptoms and provide supportive care to improve the quality of life for individuals with Gillespie syndrome, as there is no cure for the condition 2.