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Retrolental masses often present at birth have been mistaken for retinoblastomas. Hyperplasias of the vitreous, corneal opacities, and secondary glaucoma have been described. Band keratopathy may account for some of the corneal clouding and opacities. Most patients are blind soon after birth although some retain some vision into the second decade.
Some patients have been described as mentally retarded but others have normal intelligence. Hypotonia and hyperflexible joints have been noted. Bone fractures are common sometimes resulting in scoliosis, short stature and limb deformities. Radiography of the skeletal reveals porotic and thin bones.
This disorder, sometimes called the ocular form of osteogenesis imperfecta, results from mutations in LRP5 (11q13.4). The same gene is mutant in the EVR4 type of familial exudative vitreoretinopathy (601813) which has some of the same ocular and bone features. Most descriptions of OPPG were published before the gene mutation was found and many reports do not include detailed ocular examinations. Certainly the two disorders are allelic and likely the same condition.
Bone fractures need to be repaired and glaucoma treated when present. Bisphosphonate treatment may lead to increased bone density if initiated early. The retrolental masses need to be carefully evaluated to rule out retinoblastoma.