Aniridia, cerebellar ataxia, and mental deficiency (gillespie syndrome)

General: Autosomal recessive; onset at bi 111f53b rth.

Ocular: Congenital cataracts; incomplete formation of iris; bilateral congenital mydriasis.

Clinical: Cerebellar ataxia; mental deficiency; delayed developmental milestones; persistent hypotonia of muscles; gross incoordination; attention tremor; scanning speech.

Gillespie FD. Aniridia, cerebellar ataxia and oligophrenia in siblings. Arch Ophthalmol 1965; 73:338-341.

Glaser T, et al. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia and mental retardation). Genomics 1994; 19:145-l48.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Quarrell O. Gillespie syndrome reported as bilateral congenital mydriasis. Br J Ophthalmol 1993; 77:827-828.

Sarsfield JK. The syndrome of congenital cerebellar ataxia, aniridia, and mental retardation. Dev Med Child Neurol 1971; 13:508-511.