Gillespie Syndrome

Background and History: 

This disorder was first described by Frederick D. Gillespie in 1965.  It is one of a group of disorders in which the iris (colored part of the eye) is incompletely formed. 

Clinical Correlations: 

An absent or malformed iris called aniridia is a feature of this syndrome but there are neurological abnormalities as well.  The pupils may not respond normally to light.  Developmental delays are common, from learning disabilities to ADHD features to frank mental retardation.  The hands often have a tremor and difficulties in balancing (ataxia) are also features.  Brain MRIs frequently show underdevelopment of tissue.  Speech is often slurred or dysarthric.

Patients with Gillespie syndrome do not have cataracts, glaucoma or opacities of the cornea like patients with simple aniridia often have.  Crossing of the eyes and ‘wobbly eyes’ (nystagmus) as well as drooping of the eyelids is often seen. 


In most families this is an autosomal dominant disorder in which the disease is passed from parent to child in a vertical pattern.  Children of affected individuals have a 50% chance of inheriting the syndrome. 

Diagnosis and Prognosis: 

Neurologists and ophthalmologists may team up to make the diagnosis.  Vision is often impaired to a mild extent and the neurological deficits create significant challenges for many individuals.  The impact on lifespan is unknown.  No treatment is known.  Low vision aids and special education should be considered. 

Additional Information