[Gillespie syndrome: an uncommon presentation of congenital aniridia].
We report here the case of a patient suffering from Gillespie syndrome (GS) (partial aniridia, mental retardation, and cerebellar ataxia). The typical presentation is based on fixed dilated pupils in a hypotonic child. Iris abnormalities distinguish GS from other forms of aniridia. At the time of initial presentation, neurological involvement and radiologic abnormalities could be absent or delayed. Genetic determinism is still unknown. The pattern of inheritance seems to be heterogeneous, according to the autosomal recessive and autosomal dominant forms previously described.
Defreyn
A
A
Service d'Ophtalmologie, CHU, 42055 Saint Etienne Cedex, France. alex_defreyn@yahoo.fr
Maugery
J
J
Chabrier
S
S
Coullet
J
J
D015783:Aniridia / Q000145:classification / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics; D011681:Pupil Disorders / Q000209:etiology; D013577:Syndrome