Chetty, MStephen, Lawrence X.G.SRoberts, T2016-10-052016-10-052016Chetty, M. et al. (2016). Osteoporosis-pseudoglioma syndrome in South Africa. South African Medical Journal, 106(6): S100-S1022078-5135http://hdl.handle.net/10566/2435http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11008The osteoporosis-pseudoglioma syndrome (MIM 259770) is a rare autosomal recessive disorder in which bone fragility and frequent fractures are associated with serious ocular changes. The skeletal manifestations resemble those of osteogenesis imperfecta while hyperplasia of the vitreous, eye and corneal opacities often mimics the appearance of intraocular glioma. This disorder was previously reported in a South African family of Indian stock as 'the ocular form of osteogenesis imperfecta'. Terminological discussion followed and it was suggested that these individuals had osteoporosis-pseudoglioma syndrome. This article describes and depicts the manifestations of the disorder and discusses the nosology.enThe South African Journal Medical Journal is an Open Access Journal and provides immediate open access to its content on the principle that making research freely available to the public supports a greater global exchange of knowledge.Osteoporosis-pseudoglioma syndromeSouth AfricaBone fragilityBone fracturesBone densityArticle