title: Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.
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.
authors.affiliation: Pediatric Endocrinology Inter-Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.
authors.forename: Benjamin U
authors.initials: BU
authors.lastname: Nwosu
authors.forename: Margarita
authors.initials: M
authors.lastname: Raygada
authors.forename: Ekaterini T
authors.initials: ET
authors.lastname: Tsilou
authors.forename: Owen M
authors.initials: OM
authors.lastname: Rennert
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001284:Atrophy; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D015715:Corneal Edema / Q000235:genetics; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D011681:Pupil Disorders / Q000235:genetics
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain