Aniridia, Cerebellar Ataxia, and Oligophrenia in Siblings

Congenital Mydriasis Associated with Absence of Accommodation: Case Report

“…Iris changes in congenital mydriasis may also be observed in Gillespie's syndrome but cerebellar ataxia and mental subnormality were not present in our patient, so we concluded that the iris anomaly of our patient was an isolated condition. 7 The ophthalmologic findings of our patient represents a rare, nonprogressive condition called congenital mydriasis which can be recognised by clinical observation, pharmacologic testings and sophisticated anterior segment examination like ultrasound biomicroscopy. This condition can be associated with hypoplasia of ciliary processes with loss of accommodation.…”

Hereditary spastic ataxia with congenital miosis: four cases in one family.

“…It has been associated with arachnodactly, congenital rubella, and Lowe's oculocerebrorenal syndrome.31-33 To our knowledge it has not been reported in conjunctionwith hereditary ataxia, although interestingly aniridia has. 34 …”

Ocular Findings in Gillespie-Like Syndrome: Association with a New PAX6 Mutation

“…1 Both dominant and recessive patterns have been described. 3−5 We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, patchy temporal absence of the anterior iris leaflet, iris processes crossing the trabecular meshwork, anterior lens capsule opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation.…”