Ophthalmic manifestations of trisomy 8 mosaic syndrome

Abstract

Trisomy 8 mosaicism can present with a varied clinical picture. A significant number of cases have ocular manifestations. The most commonly reported in the literature have been corneal abnormalities and strabismus. We present a case of trisomy 8 mosaic syndrome with very different ophthalmic manifestations, some of which are previously unreported in the literature. The patient who was known to have trisomy 8 mosaic syndrome was referred with concerns about his visual abilities. He had a characteristic facial dysmorphism and other systemic features associated with this condition. Ophthalmic features included bilateral Duane's syndrome, bilateral myopic astigmatism, congenital pendular nystagmus, 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.