Osteoporosis-pseudoglioma syndrome in South Africa
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Date
2016
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group
Abstract
The 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.
Description
Keywords
Osteoporosis-pseudoglioma syndrome (MIM 259770), Rare autosomal recessive disorder, Bone fragility, Hyperplasia
Citation
Chetty, M. et al. (2016). Osteoporosis-pseudoglioma syndrome in South Africa. South African Medical Journal, 106(6): S100-S102.