Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.

Abstract

We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions.

• Authors: Muralidhar Ramappa, M Edward Wilson, R Curtis Rogers, Rupal H Trivedi
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 18 Issue 5 Pg. 509-11 (Oct 2014) ISSN: 1528-3933 [Electronic] United States
• PMID: 25266838 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Chemical References

• Transcription Factors
• ZNF469 protein, human

Topics

• Corneal Diseases (complications, diagnosis, therapy)
• DNA Mutational Analysis
• Ehlers-Danlos Syndrome (complications, diagnosis, therapy)
• Eye Abnormalities
• Eye Protective Devices
• Gene Deletion
• Humans
• Infant
• Joint Instability (congenital)
• Male
• Myopia, Degenerative (diagnosis)
• Point Mutation (genetics)
• Polymerase Chain Reaction
• Scleral Diseases (diagnosis)
• Skin Abnormalities
• Transcription Factors (genetics)