Ocular Findings in the Velo-cardio-facial Syndrome

Abstract

Velo-cardio-facial syndrome is a common genetic syndrome of cleft palate, learning disability, heart disease, and abnormal facial appearance. Ocular findings include retinal vascular tortuosity, posterior embryotoxon, narrow palpebral fissures, suborbital discoloration, small optic nerves, iris nodules, and cataracts. Retinal vascular tortuosity was found to be associated intrinsically with the syndrome and not secondary to the heart disease. The ocular and systemic findings suggest a primary developmental anomaly of neural crest derivatives in the pathogenesis of the syndrome.