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Gillespie Syndrome

Aniridia, Cerebella Ataxia, mental deficiency
Aniridia, Cerebella Ataxia, Mental Retardation
Partial Aniridia, Cerebella Ataxia, Mental Retardation
Partial Aniridia, Cerebella Ataxia, Oligophrenia

Gillespie Syndrome is an extremely rare genetic disorder affecting the eyes and the brain. It was first identified in 1965 and since then the have be 21 report cases (cases which have been the feature of a published case study) 9 sporadic cases (no family history) and 12 in 5 families. As many report equally affect siblings with what appear to be normal parents, in the past it was believed that if was recievely inherited (it two parent carriers who are not affected themselves). However, some familial case studies have found a varying degree of similar symptoms in other family members which suggests that it is dominantly inherited (one parent is affect and pass it on to their child) with the degree to which the individual is affected varying so much that it may not be obvious in a parent. This should only be assumed if family history indicates it is likely.


People with Gillespie Syndrome are said to have bilateral partial aniridia, however, no mutation of the PAX6 gene has been found in a patient with Gillespie syndrome, which suggests that people with Gillespie syndrome have a similar condition with a different origin. Dollfus, H et al found a de novo translocation t(X;11)(p22.32;p12) in one patient with Gillespie syndrome. This did not show any direct affect on the PAX6 gene.

Major Features

Bilateral Partial Iris Hypoplasia
This means that in both eyes (bilateral) part of the iris (the coloured ring at front of the eye) is missing. This makes the person appear to have very large and non responsive pupils. It has also been clinically described as aplasia of pupillary zone of iris, circumpupillary aplasia of the iris, bilateral superior coloboma, but these all mean more or less the same thing.

Foveal Hypoplasia
In people with gillespie syndrome vision is usually about 20/60 this is low but functional vision. They can see where they are going and read normal print, though they may hold books and other objects closer to their face than the average person.

They may also have nystagmus (wobbly eyes) and Ptosis (droppy eyelids).

Aniridia is often milder in people with Gillespie syndrome than in people with isolated Aniridia. People with Gillespie Syndrome do not develop cataracts or cornea pannus, which are common in people with isolated aniridia.

Congential non-progressive Cerebella ataxia

The Cerebellum is part the part of the brains that is responsable for maintaining muscle tone, balance and co-ordination. it does not control consciencous thought or intelligence.

Ataxia means no co-ordination.

Therefore, cerebella ataxia is a conditions in which poor muscle tone is maintained and difficulties in maintaining balance and co-ordination are present.

This affects
- The persons ability to walk unaided,
- To speak clearly
- To write

They may appear clumpsy and unco-ordinated, as though they are drunk. the persons intelligence is usually normal and the content of their speach is normal.

Cerebellum Hypoplasia
Some case reports have described underdeveloped cerebellums which may account for the ataxia. Later, Similar findings, such as Cerebral and cerebellar atrophy with white matter changes on MRI scan have been found. It is unclear what affect this has on patients. The Cerebal atrophy may be the cause of learning disabilities that are present in some of patients with Gillespie syndrome. The serverity of these difficulties varies between patients.

This combination of conditions often causes children with gillespie syndrome to be delayed in developing both mental and motor skills.

One case of Gillespie syndrome was reported with congenital pulmonic stenosis: the Pulmonary Atery is the valve that takes blood from the heart into the lungs for oxygenisation. In pulmonic stenosis the flow of blood from the Pulmonary atery is restricted. symptoms of this can be A heart murmur and fainting, However, this can be corrected with surgery.

The symptoms of Gillespie Syndrome can vary dramatically between individuals. However, all reported cases have shown both bilateral partial aniridia and cerebella ataxia.


Gillespie Syndrome references text file

Kasper Hult:

Ataxia UK
10 winchester House
kennington Park
Cranmer Road
London SW9 6EJ