Microphthalmos, corneal opacity, mental retardation, and spastic cerebral palsy. An oculocerebral syndrome

Three sisters with microphthalmos, severe mental retardation, and spastic cerebral palsy are described. A review of the literature has revealed several nonfamilial examples of this triad. Each patient also had various degrees of corneal opacity in the absence of cataract or coloboma. Their normally intelligent mother had unilateral microphthalmos and marginal dysplasia of Descemet's membrane. The frequent association of microphthalmos with nonocular congenital defects is discussed from the viewpoint of the genetic counselor.