Keratoconus in Costello Syndrome
Article first published online: 13 MAR 2013
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 5, pages 1132–1136, May 2013
How to Cite
2012. Keratoconus in Costello syndrome. Am J Med Genet Part A 161A:1132–1136., .
- Issue published online: 22 APR 2013
- Article first published online: 13 MAR 2013
- Manuscript Accepted: 26 NOV 2012
- Manuscript Received: 2 NOV 2012
- Costello syndrome;
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. © 2013 Wiley Periodicals, Inc.