Gillespie syndrome

This is part of Rare diseases.

Diagnosis: Gillespie syndrome

Synonyms: --


Date of publication: 2014-10-09
Version: 3.0

The disease

Gillespie syndrome is a very rare hereditary disease characterized by the partial lack of the iris in the eye (partial aniridia) and balance and co-ordination problems (ataxia) often accompanied by mental disabilities. The syndrome was described for the first time in 1965 by American ophthalmologist Frederick Gillespie.


Gillespie syndrome is very rare. In Sweden, a few individuals with the condition are known to have the disease but the exact figure has not been established. In 2008 a Swedish study established the prevalence of aniridia as approximately two in every 100,000 population. Of these, two per cent had Gillespie syndrome, meaning that an estimated four people have the disease in Sweden.


Gillespie syndrome is caused by a mutation in one or several genes. Which gene or genes are involved is not yet known.

Congenital aniridia is also associated with other diseases. Aniridia without any other symptoms is caused by a mutation in the PAX6 gene located on chromosome 11 (11p13). Mutations in PAX6 have also been identified in some people with Gillespie syndrome. In the Rare Disease Database of the Swedish National Board of Health and Welfare you can find separate information on congenital aniridia.

In WAGR syndrome (W stands for Wilms tumour, a malignant kidney tumour primarily affecting small children; A is for aniridia; G is for genital abnormalities; R stands for mental retardation) there is also a mutation in the neighbouring WT1 (11p13) gene, which affects other organs. The rare disease database of the Swedish National Board of Health and Welfare contains separate information on WAGR-syndrome.


The inheritance pattern of Gillespie syndrome is autosomal recessive. This means that both parents are healthy carriers of a mutated gene. In each pregnancy with the same parents there is a 25 per cent risk that the child will inherit double copies of the mutated gene (one from each parent). In this case the child will have the disease. In 50 per cent of cases the child inherits only one mutated gene (from one parent only) and like both parents, will be a healthy carrier of the mutated gene. In 25 per cent of cases the child will not have the disease and will not be a carrier of the mutated gene.

Figure: Autosomal recessive inheritance


Children with Gillespie syndrome are born with dilated pupils, which do not react to light as the iris is partially underdeveloped (partial aniridia). These large pupils cause the child to be over-sensitive to light. The pupils are round, but where the pupil and iris meet the edges of the iris are scalloped, with strands of iris extending into the anterior of the surface of the lens. A web-like structure may be visible over the pupil, formed by the remnants of the pupillary membrane. These are both characteristic eye abnormalities associated with Gillespie syndrome.

In Gillespie syndrome aniridia is not as severe as in the more common condition, congenital aniridia, or in WAGR syndrome. It is possible to see remaining parts of the iris. As vision is impaired, the retina is also frequently affected. In some people both the optic nerve and the macula are under-developed. Generally, people with Gillespie syndrome have significantly fewer eye problems than others with congenital aniridia.

Neurological symptoms, such as poor muscle tone (hypotonia) or severely delayed motor development, become apparent during the child’s first year of life. During the first or second year, motor coordination problems (ataxia) will become increasingly evident as the child attempts to grip, sit and walk. Ataxia is not progressive. Delays in the development of motor skills vary greatly between children. These children have problems coordinating the muscles of the mouth, and speech development is often very late. This is also common in ataxia, but for other reasons.

Gillespie syndrome involves cognitive impairment, but the level of intellectual disability varies greatly between individuals.

Apart from the three main symptoms - partial aniridia, ataxia and intellectual disability - other symptoms such as hearing impairment may also be identified. In a few individuals abnormalities of the vertebrae, intestinal defects or pulmonary stenosis (narrowing of the pulmonary valve) have been reported.


Aniridia is usually diagnosed in the neonatal period by an ophthalmologist. However, as ataxia and cognitive impairment are hard to detect in very young infants, it is too early to diagnose Gillespie syndrome at this stage.

A specific test for Gillespie syndrome is not yet available, but where a diagnosis of aniridia is made, and has not previously been identified in the family, a geneticist should be consulted. DNA testing can then be discussed to eliminate or confirm the presence of mutations in the PAX gene, possibly combined with a mutation in the WT1 gene.

In some people with Gillespie syndrome a brain scan using magnetic resonance imaging (MRI) will show that the cerebellum and cerebrum are smaller than usual. However, these abnormalities are not characteristic of Gillespie syndrome.


It is important that children with Gillespie syndrome are examined by an ophthalmologist early in life so that eye abnormalities, apart from those affecting the pupils, are diagnosed. Different investigative methods and tests make it possible to establish which eye abnormalities the child has, and how they will affect vision.

To stimulate development and compensate for loss of function, children with the syndrome may need early habilitation which includes support for visual impairments. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development.

Support and treatment are provided within the medical, educational, psychological, social and technical fields. Help includes assessment, treatment, the provision of aids, information on the specific disability, and counselling. It may also include information about support offered by the public authorities as well as advice on the way accommodation and other environments can be adapted to the child’s needs. Parents and siblings can also receive support. The family may also need help in coordinating interventions. The measures focus on the needs of the child and family, may vary over time, and always occur in collaboration with individuals close to the child.

Based on the needs of the child, the appropriate visual aids are tried and adjusted, and training in their use is provided.

Children with Gillespie syndrome require stimulation and training to help develop their motor skills. Aids and equipment that may be helpful include standing supports and walkers. Most people with the condition require some sort of help in walking, and for some a wheel chair provides the best alternative.

It is important for the development of language and communication that help is provided early. Language skills may be stimulated by AAC (augmentative and alternative communication), a collective term for non-verbal communication.

An investigation to assess the child’s stage of development is carried out before the age of seven. A neuropsychological investigation should be conducted to pinpoint specific difficulties requiring special educational measures. These include difficulties in interpreting visual signals, and in using sight to orient oneself (visuospatial memory).

Local Swedish public agencies can offer different forms of support to facilitate the family’s everyday life. Respite care can, for example, take the form of a contact family or short-term accommodation outside the home. Personal assistance can help the child lead an active live despite extensive disabilities. In many cases the environment needs to be adapted to compensate for the disability.

Adults with Gillespie syndrome require continued habilitation and support, adapted to their individual, daily needs. This may take the form of support and care in accommodation offering specialist services and daily activities.

Practical advice


National and regional resources in Sweden

The diagnosis is made in collaboration with departments of clinical genetics at Sweden’s university hospitals.

Resource Centre Vision is a national resource centre at the National Agency for Special Needs Education and Schools, www.spsm.se. Centres are located both in Stockholm (the premises of the Swedish National Agency for Special Needs Education and Schools at Kungsholmen) and Örebro (in association with Ekeskolan). Special education assessments are made of children and young people with impaired vision, or with impaired vision in combination with other disabilities. Assessments are carried out locally as well as at the centres in Stockholm and Örebro, and always in collaboration with local resources.

Resource Centre for the Visually Impaired - Stockholm, Rålambsvägen 32 B, Box 121 61, SE-102 26 Stockholm, Sweden. Tel: +46 10 437 50 00, email: rc.syn.stockholm@spsm.se.

Resource Centre for the Visually Impaired - Örebro, Eriksbergsgatan 3, SE-702 30 Örebro. Box 9024, SE-700 09 Örebro, Sweden.Tel: +46 10 473 50 00, email: rc.syn.orebro@spsm.se.

Resource personnel

Senior Physician Martin Jägervall, Department of Paediatrics, Centre for Women and Children, SE-351 85 Växjö, Sweden. Tel: +46 470 58 80 00, email: martin.jagervall@ltkronoberg.se.

Janina Waga MD, Skåne University Hospital, SE-221 85 Lund, Sweden. Tel: +46 17 10 00. Email: janina-jadwiga.waga@skane.se.

Courses, exchanges of experience, recreation


Organizations for the disabled/patient associations etc.

Rare Diseases Sweden, Box 1386, SE-172 27 Sundbyberg, Sweden. Tel: +46 8 764 49 99, email: info@sallsyntadiagnoser.se, www.sallsyntadiagnoser.se. Rare Diseases Sweden is a national association representing people with rare diseases and varying disabilities.

The parent representative for Gillespie syndrome at Rare Diseases Sweden is Ann-Sofie Hult, email: ann-sofie.hult@telia.com.

Aniridia Sweden, www.aniridi.se, email: info@aniridi.se. The Chair is Ivana Kildsgaard, tel: +46 70 435 71 42, email: ivana@aniridi.se. The Aniridia Network in Sweden is a national association for people with aniridia and their families. People with Gillespie syndrome and their friends and family are also welcome to become members.

FUB, The Swedish National Association for Children, Young People and Adults with Intellectual Disabilities, Industrivägen 7 (address for visitors), Box 1181, SE-171 23 Solna, Sweden. Tel: +46 8 508 866 00, fax: +46 8 508 866 66, email: fub@fub.se, www.fub.se.

RBU, The Swedish National Association for Disabled Children and Young People, St Eriksgatan 44, Box 8026, SE-104 20 Stockholm, Sweden. Tel: +46 8 677 73 00, fax: +46 8 677 73 09, email: info@riks.rbu.se, www.rbu.se.

SRF, The Swedish Association of the Visually Impaired, Sandsborgsvägen 52, SE-122 88 Enskede, Sweden. Tel: +46 8 39 90 00, fax: +46 8 39 93 22, email: info@srf.nu, www.srf.nu.

Courses, exchanges of experience for personnel


Research and development


Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. These leaflets may be ordered or printed out. (See under “Mer hos oss” in the right hand column.)

Information in English on Gillespie syndrome can be found on the website of the American patient association, Aniridia Networks, www.aniridia.org.


Bourghamoura L, Yacoub M, Abroug M, Chabchoub I, Bougezzi R, Charfeddine L et al. Gillespie syndrome: 2 familial cases. Arch Pediatr 2006; 13: 1323-1325.

Defreyn A, Maugery J, Chabrier S, Coullet J. Gillespie syndrome: an uncommon presentation of congenital aniridia. J Fr Ophtalmol 2007; 30: e1 French.

Dell’acqua Cassao B, de Rezende DT, Silva LC, Herbella FA. Esophageal dysmotility in Gillespie syndrome. J Neurogastroenterol Motil 2013; 19: 538-539.

Donald KA, Grotte R, Crutchley AC, Wilmshurst JM. Gillespie syndrome: two further cases. J Child Neurol 2006; 21: 337-340.

Eden U, Beijar C, Riise R, Tornquist K. Aniridia among children and teenagers i Sweden and Norway. Acta Ophtalmol 2008; 86: 730-734.

Gillespie FD. Aniridi, cerebellar ataxi, and oligophrenia in siblings. Arch Ophtalm 1965; 73: 338-341.

Glaser T, Ton CC, Mueller R, Petzl-Erler ML, Oliver C, Nevin NC et al. Abscence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation. Genomics 1994; 19: 145-148.

Luquetti DV, Oliveira-Sobrinho RP, Gil-da-Silva-Lopes VL. Gillespie syndrome: additional findings and parental consanguinity. Ophthalmic Genet 2007; 28: 89-93.

Mariën P, Brouns R, Engelborghs S, Wackenier P, Verhoever J, Ceulemen B et al. Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome. Cortex 2008; 44: 54-67.

Nelson J, Flaherty, M, Grattan-Smith P. Gillespie syndrome: a report of two further cases. Am J Med Genet 1997; 71: 134-138.

Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D. Ocular findings in Gillespie-like syndrome: association with new PAX6 mutation. Ophthalmic Genet 2006; 27: 145-149.

Database references

OMIM (Online Mendelian Inheritance in Man)
Search: aniridia, cerebellar ataxia and mental deficiency

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Associate Professor Gunilla Malm, Karolinska University Hospital, Stockholm, Sweden.

The medical material has been revised by Senior Physician Martin Jägervall, The General Hospital,Växjö, and Ulla Edén MD, The Department of Opthalmology, Faculty of Health Sciences at the University of Linköping.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2014-10-09
Version: 3.0
Publication date of the Swedish version: 2014-06-10

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: + 46 31 786 55 90, fax +46 31 786 55 91, email: ovanligadiagnoser@gu.se.


About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.