Brittle Cornea Syndrome: A Case Report and Comparison with Ehlers Danlos Syndrome | oneedsvoice

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Brittle Cornea Syndrome: A Case Report and Comparison with Ehlers Danlos Syndrome

key information

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 Center

DOI: 10.1016/j.jaapos.2014.06.013

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