Association of infantile-onset glaucoma with collagen disorders

Abstract

Primary infantile-onset glaucoma is a rare, potentially blinding disease that is due to malformation of the trabecular meshwork and aqueous outflow tracts (goniotrabeculodysgenesis). While goniotrabeculodysgenesis is typically an isolated finding, there are reports of primary infantile-onset glaucoma in the setting of collagen disorders, specifically Stickler syndrome and osteogenesis imperfecta. In Stickler syndrome, defects in type II or type XI collagen are commonly associated with craniofacial anomalies, hearing loss, hypermobile joints, and vitreoretinal abnormalities. Osteogenesis imperfecta is caused by disruption in type I collagen synthesis and is characterized by frequent bone fractures. Both type I and type II collagens are major structural proteins in the trabecular meshwork of the eye and both of these collagen disorders show higher incidences of adult-onset glaucoma. Herein we review the association between primary infantile-onset glaucoma and collagen disorders, which gives insight into the development of the trabecular meshwork and the aqueous outflow tracts of the eye.