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

Ophthalmic Genet 2005 Sep;26(3):135-8

Pediatric Endocrinology Inter-Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810500228993DOI Listing
September 2005

Publication Analysis

Top Keywords

ocular abnormalities
8
col1a1 mutation
8
osteogenesis imperfecta
8
ehlers-danlos syndrome
8
rieger's anomaly
8
described kindreds
4
kindreds patient
4
patient serious
4
complications result
4
serious complications
4
syndrome features
4
ocular anterior
4
association ocular
4
rarely association
4
anterior chamber
4
abnormalities reported
4
result ocular
4
reported ehlers-danlos
4
features described
4
speculate course
4

Similar Publications