Gillespie syndrome

Autosomal dominant - en

Gillespie syndrome is a rare genetic disorder characterized by a combination of aniridia, cerebellar ataxia, and intellectual disability. It is also known as aniridia-cerebellar ataxia-intellectual disability syndrome. The condition is named after the American ophthalmologist Fredrick Gillespie, who first described it in 1965.

Presentation

Individuals with Gillespie syndrome typically present with partial or complete aniridia, which is the absence of the iris in the eye. This can lead to various vision problems, including photophobia, decreased visual acuity, and nystagmus.

Cerebellar ataxia, another hallmark of the syndrome, affects the cerebellum, the part of the brain responsible for coordinating movement. This results in difficulties with balance, coordination, and fine motor skills.

Intellectual disability in Gillespie syndrome can range from mild to severe. Affected individuals may experience developmental delays, learning difficulties, and other cognitive impairments.

Genetics

Gillespie syndrome is typically inherited in an autosomal recessive manner, although some cases may occur sporadically. Mutations in the ITGB2 gene have been implicated in the condition. This gene is responsible for encoding a protein that plays a role in cell adhesion and signaling.

Diagnosis

Diagnosis of Gillespie syndrome is based on clinical evaluation, family history, and genetic testing. Ophthalmologic examination can confirm the presence of aniridia, while neurological assessments can identify cerebellar ataxia. Genetic testing can detect mutations in the ITGB2 gene, confirming the diagnosis.

Management

There is no cure for Gillespie syndrome, and treatment is primarily supportive and symptomatic. Management may include:

• Vision therapy and corrective lenses for visual impairments
• Physical therapy to improve coordination and balance
• Special education programs to address intellectual disabilities
• Regular follow-up with a multidisciplinary team of specialists

Prognosis

The prognosis for individuals with Gillespie syndrome varies depending on the severity of symptoms. With appropriate management and support, many individuals can lead fulfilling lives, although they may require lifelong care and assistance.

Related Pages

• Aniridia
• Cerebellar ataxia
• Intellectual disability
• Autosomal recessive inheritance
• ITGB2 gene