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

UMMS Affiliation

Department of Pediatrics, Division of Endocrinology

Publication Date


Document Type



Abnormalities, Multiple; Adult; Atrophy; Collagen Type I; Corneal Edema; DNA Mutational Analysis; Eye Abnormalities; *Frameshift Mutation; Humans; Iris; Male; Osteogenesis Imperfecta; Pupil Disorders


Endocrinology, Diabetes, and Metabolism | Pediatrics


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.

DOI of Published Version



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

Journal/Book/Conference Title

Ophthalmic genetics

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PubMed ID