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

Lim, L. T., Rehman, A., Masoud, M. T., Jaiya, A., Tan, P. Y. and Scott, J. A. (2015) New corneal findings in chromosome 10 deletion syndrome: report of two cases of corneal ectasia of varying severity. Seminars in Ophthalmology, 30(1), pp. 58-61. (doi: 10.3109/08820538.2013.821503)

Abstract

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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Lim, Dr Lik
• Authors: Lim, L. T., Rehman, A., Masoud, M. T., Jaiya, A., Tan, P. Y., and Scott, J. A.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Seminars in Ophthalmology
• Publisher: Informa Healthcare
• ISSN: 0882-0538
• ISSN (Online): 1744-5205