Ocular Findings in Treacher Collins Syndrome

Abstract

We examined 14 patients from nine families referred with the diagnosis of Treacher Collins syndrome. We noted seven significant ocular findings including the following: a subnormal horizontal palpebral fissure length and inferomedial displacement of the lateral canthus in primary gaze; further medial displacement (4.0 mm or more) of the lateral canthus with resultant shortening of the horizontal fissure length on forced eyelid closure (fissure narrowing sign); partial-thickness eyelid colobomata localized to the nasal one half to two thirds of the lower eyelids; bilateral absence of the inferior lacrimal puncta; bilateral blepharoptosis; inferior displacement of the palpebral fissures; and regular astigmatism without any consistent orientation of the axis of astigmatism relative to the lower eyelid defects, blepharoptosis, or lateral canthus. The fissure narrowing sign correlates with known anatomic deficiencies in the Treacher Collins syndrome and may prove valuable in confirming the diagnosis in patients who lack certain typical features.