Rieger's Anomaly and Other Ocular Abnormalities in Association with Osteogenesis Imperfecta and aCOL1A1Mutation
Copyright policy )Rieger's Anomaly and Other Ocular Abnormalities in Association with Osteogenesis Imperfecta and aCOL1A1Mutation
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.
- National Institutes of Health United States
- University of Massachusetts Medical School United States
- National Eye Institute United States
- National Institute of Health Pakistan
Adult, Male, Diabetes, Corneal Edema, DNA Mutational Analysis, Iris, Osteogenesis Imperfecta, Pediatrics, Collagen Type I, Collagen Type I, alpha 1 Chain, Endocrinology, *Frameshift Mutation, and Metabolism, Pupil Disorders, Humans, Abnormalities, Multiple, Eye Abnormalities, Abnormalities, Atrophy, Frameshift Mutation, Multiple
Adult, Male, Diabetes, Corneal Edema, DNA Mutational Analysis, Iris, Osteogenesis Imperfecta, Pediatrics, Collagen Type I, Collagen Type I, alpha 1 Chain, Endocrinology, *Frameshift Mutation, and Metabolism, Pupil Disorders, Humans, Abnormalities, Multiple, Eye Abnormalities, Abnormalities, Atrophy, Frameshift Mutation, Multiple
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