Abstract

Trisomy 8 mosaicism is a rare chromosomal disorder with multisystemic abnormalities.1 Clinical features include characteristic facies; thick ears; abnormal dermatoglyphic patterns; mental retardation; and cardiovascular, genitourinary, and musculoskeletal malformations.2 The most commonly reported ocular manifestations are corneal abnormalities, cataract, iris heterochromia, and strabismus.3,4 We report a case of trisomy 8 mosaic syndrome with bilateral asymmetric corneal opacities. Histopathology of the corneal button obtained at the time of penetrating keratoplasty was consistent with a choristoma by inclusion of fibroblastic and glandular tissue. Surgical treatment permitted amblyopia therapy.

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