Osteoporosis-Pseudoglioma Syndrome

Osteoporosis-Pseudoglioma Syndrome (OPPG): Ocular findings range from phthisis bulbi to persistent hyperplasia of the primary vitreous, congenital retinal folds and exudative vitreoretinopathy. The majority of patients are blind by 15 years of age with all probands blind by 25 years of age. The skeletal disease is characterized by severe juvenile-onset osteoporosis leading to bone deformity and recurrent fractures. Some patients may also present with cognitive impairment (Ai et al., 2005).