welcome to oneEDSvoice
- a positively charged Ehlers Danlos Syndrome community.- join today!
- login
scientific articles
Brittle Cornea Syndrome: A Case Report and Comparison with Ehlers Danlos Syndrome
source: JAAPOS - Journal of the American Association for Pediatric Ophthalmology and Strabismus
year: 2014
authors: Ramappa M, Wilson ME, Rogers RC, Trivedi RH
summary/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.
organization: Storm Eye Institute; Medical University of South Carolina; L V Prasad Eye Institute; Greenwood Genetics CenterDOI: 10.1016/j.jaapos.2014.06.013
read more full text source
expertly curated content related to this topic
-
Balance, Gait, Falls, and Fear of Falling in Women with the Hypermobility Type of Ehlers-Danlos SyndromeOBJECTIVE: To investigate balance, gait...
-
Family Study of the Inheritance of Pectus ExcavatumBACKGROUND: The most common congenital ...
-
Howard Levy, MD, PhDDr. Levy is dedicated to patient care, e...
-
Sara E. Williams, PhDSara E. Williams, PhD, is a clinical psy...
-
Myles B. Koby, MDDr. Myles B Koby, MD, is a Diagnostic Ra...
-
Ehlers-Danlos Syndrome: Your Eyes and EDSEhlers-Danlos Syndrome (EDS) patients of...
-
Jason ParryJason is a Clinical Specialist Physiothe...