OPHTHALMIC MANIFESTATIONS OF TRISOMY-8 MOSAIC SYNDROME

Trisomy 8 mosaicism can present with a varied clinical picture. A sign ificant number of cases have ocular manifestations. The most commonly reported in the literature have been corneal abnormalities and strabis mus. We present a case of trisomy 8 mosaic syndrome with very differen t ophthalmic manifestations, some of which are previously unreported i n the literature. The patient who was known to have trisomy 8 mosaic s yndrome was referred with concerns about his visual abilities. He had a characteristic facial dysmorphism and other systemic features associ ated with this condition. Ophthalmic features included bilateral Duane 's syndrome, bilateral myopic astigmatism, congenital pendular nystagm us, and macula hypoplasia. Electrodiagnostic tests confirmed extensive abnormality of cone function in both eyes. This case is discussed in relation to a review of the literature.