Background: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy.
Case report: We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 + 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.