Gillespie Syndrome
Patient Information
Characteristics
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.
Genetics
Inheritance
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.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
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.
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