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Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.
Ophthalmic Genet. 2005 Sep; 26(3):135-8.OG

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+Show Affiliations

Pediatric Endocrinology Inter-Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16272059

Citation

Nwosu, Benjamin U., et al. "Rieger's Anomaly and Other Ocular Abnormalities in Association With Osteogenesis Imperfecta and a COL1A1 Mutation." Ophthalmic Genetics, vol. 26, no. 3, 2005, pp. 135-8.
Nwosu BU, Raygada M, Tsilou ET, et al. Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. Ophthalmic Genet. 2005;26(3):135-8.
Nwosu, B. U., Raygada, M., Tsilou, E. T., Rennert, O. M., & Stratakis, C. A. (2005). Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. Ophthalmic Genetics, 26(3), 135-8.
Nwosu BU, et al. Rieger's Anomaly and Other Ocular Abnormalities in Association With Osteogenesis Imperfecta and a COL1A1 Mutation. Ophthalmic Genet. 2005;26(3):135-8. PubMed PMID: 16272059.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. AU - Nwosu,Benjamin U, AU - Raygada,Margarita, AU - Tsilou,Ekaterini T, AU - Rennert,Owen M, AU - Stratakis,Constantine A, PY - 2005/11/8/pubmed PY - 2005/12/13/medline PY - 2005/11/8/entrez SP - 135 EP - 8 JF - Ophthalmic genetics JO - Ophthalmic Genet VL - 26 IS - 3 N2 - 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. SN - 1381-6810 UR - https://www.unboundmedicine.com/medline/citation/16272059/Rieger's_anomaly_and_other_ocular_abnormalities_in_association_with_osteogenesis_imperfecta_and_a_COL1A1_mutation_ L2 - https://www.tandfonline.com/doi/full/10.1080/13816810500228993 DB - PRIME DP - Unbound Medicine ER -