Congenital Fibrosis of the Vertically Acting Extraocular Muscles: A New Group of Dominantly Inherited Ocular Fibrosis with Radiologic Findings

Abstract

The authors studied a family with a form of congenital fibrosis of the extraocular muscles different from any group previously reported. A careful examination was done of all affected and all, except one, unaffected members of a family of 15 members extending over three generations. The authors performed computed tomography on five affected and four unaffected family members. All affected family members showed complete loss of vertical ocular movement but largely free horizontal movement except for variable restriction of adduction in some members. A variable degree of ptosis was present, ranging from gross to nil, but with poor levator function and an absent Bell phenomenon in all affected members. All affected members showed superficial keratopathy, many with corneal scarring. Ocular alignment showed considerable variation. Refractive error and amblyopia also were variable. Computed tomographic scan indicated reduction in size of the extraocular muscles, particularly the superior recti with intracranial ventricular asymmetry in three of five patients examined, and abnormality in shape of the eye globes in two patients. The findings indicate a new group best described as dominantly inherited congenital fibrosis of the vertical-acting extraocular muscles, which is part of the syndrome of congenital ocular fibrosis. Computed tomographic scanning suggested that the clinical picture was produced by changes present in the orbit, but intracranial ventricular asymmetry also was present in some patients and asymmetry of the eye globes in others.