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Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation

Nwosu, Benjamin U.
Raygada, Margarita
Tsilou, Ekaterini T.
Rennert, Owen M.
Stratakis, Constantine A.
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Abstract

A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly and other associated ocular abnormalities. He carried a COL1A1 mutation (c.3313delA) that has only rarely been seen in OI. The association of ocular anterior chamber abnormalities with OI has not been reported previously, while OI with Ehlers-Danlos syndrome features has only been described in some kindreds. The patient had serious complications as a result of his ocular anomalies. We speculate that the course of his disease and, perhaps, its co-existence with OI could be exacerbated by his collagen type-I defect, although no causality can be established by this report of a single case.

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Ophthalmic Genet. 2005 Sep;26(3):135-8. Link to article on publisher's site

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DOI
10.1080/13816810500228993
PubMed ID
16272059
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