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Am J Med Genet A. 2013 May;161A(5):1132-6. doi: 10.1002/ajmg.a.35816. Epub 2013 Mar 13.

Keratoconus in Costello syndrome.

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  • 1Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, DE, USA. kgripp@nemours.org

Abstract

Keratoconus is a corneal dystrophy with progressive corneal thinning resulting in abnormal corneal shape and astigmatism. Corneal hydrops and rupture can occur and corneal transplant may become necessary. While keratoconus is rare in the general population occurring in about 1/2,000 individuals, it is more common in individuals with intellectual disability and syndromic conditions. Connective tissue abnormalities, most typically brittle cornea syndrome, have frequently been reported in association with keratoconus. Here, we report on bilateral keratoconus with acute hydrops in the left eye of a 24-year-old male with Costello syndrome. The patient was treated medically. After resolution of the hydrops, he had significant visual impairment from the resulting irregular astigmatism and scarring. This is the second report of keratoconus in Costello syndrome, suggesting an increased risk for this corneal dystrophy in individuals with Costello syndrome. Ongoing ophthalmological surveillance may be necessary for adult individuals with Costello syndrome, and apparent vision changes should be evaluated expediently.

Copyright © 2012 Wiley Periodicals, Inc.

PMID:
23494969
[PubMed - indexed for MEDLINE]
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