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

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 follo...

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Veröffentlicht in:Journal of AAPOS 2014-10, Vol.18 (5), p.509-511
Hauptverfasser: Ramappa, Muralidhar, MD, Wilson, M. Edward, MD, Rogers, R. Curtis, MD, Trivedi, Rupal H., MD, MSCR
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Sprache:eng
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Zusammenfassung: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.
ISSN:1091-8531
1528-3933
DOI:10.1016/j.jaapos.2014.06.013