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Updated: Aug 15, 2026
Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
Published on: December 18, 2019
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation
Benjamin U Nwosu1, Margarita Raygada, Ekaterini T Tsilou
1Pediatric Endocrinology Inter-Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.
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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