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Abstract #16990 Published in IGR 9-1
Gillespie syndrome: an uncommon presentation of congenital aniridia
Defreyn A; Maugery J; Chabrier S; Coullet JJournal Français d'Ophtalmologie 2007; 30: e1
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. LA: French
Dr. A. Defreyn, Service d'Ophtalmologie, CHU, 42055 Saint Etienne Cedex, France. alex_defreyn@yahoo.fr
Classification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
