New corneal findings in chromosome 10 deletion syndrome: report of two cases of corneal ectasia of varying severity.

PURPOSE: To describe corneal changes associated with chromosome 10 terminal deletion (chromosome 10, monosomy 10qter) syndrome. METHODS: Report of two cases of bilateral corneal ectasia with literature review. RESULTS: Corneal pathology has not previously been reported in the limited number of case reports on 10qter syndrome. However, Rodrigues et al.(1) have reported sclerocornea in 10q translocation. CONCLUSIONS: Ophthalmic manifestations of 10qter syndrome include strabismus, lid, and facial anomalies. We present two cases of corneal ectasia of varying severity. Possible etiologies include the following: secondary to genetic factors, acquired corneal exposure during sleep, or possible intrinsic immunocompromise exacerbating ocular surface infections. Corneal ectasia with specific histological changes is a feature of various genetic disorders (e.g., Down's, Ehler's Danlos, and Marfan's syndromes). It is unknown whether genetics plays a role in the development of corneal changes in 10qter syndrome. Management of inflammation and visual rehabilitation in these patients poses a therapeutic challenge.