Familial iridoplegia.
Fixed, dilated pupils in childhood are usually due to interruption of parasympathetic innervation as a result of neurologic impairments or occur following pharmacologic mydriasis. We present a familial form of iridoplegia without structural defects of the eye which is consistent with a probable autosomal dominant mode of inheritance. Examination of other family members should be part of an affected individual's evaluation particularly when this finding occurs as an isolated defect. Recognition of such an entity may avoid unnecessary neurodiagnostic studies in an affected individual.
D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007499:Iris Diseases / Q000235:genetics*; D011680:Pupil / Q000502:physiology*