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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.
organisation: Storm Eye Institute; Medical University of South Carolina; L V Prasad Eye Institute; Greenwood Genetics CenterDOI: 10.1016/j.jaapos.2014.06.013
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