Osteoporosis-pseudoglioma syndrome in South Africa

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.

Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome

“…Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease characterized by severe osteoporosis, increased bone fragility, defects in the fetal ocular fibrovascular system, convulsions and intellectual disability. Osteoporosis causes vertebral compression, kyphosis, short stature, bowing of long bones, and vertebral and recurrent long bone fractures that may lead to skeletal abnormalities and physical disabilities ( 1 ). Ocular complications, usually presenting at birth or in early infancy, are due to vitreoretinal degeneration and manifest as phthisis bulbi, microphthalmia, retinal detachment, and/or exudative retinopathy, leading to congenital or juvenile blindness ( 2 ).…”