Juvenile Paget Disease (JPD) is associated with a mutation in the gene TNFRSF11B that results in defective osteoprotegerin, a protein involved in the regulation of bone turnover. A patient with Juvenile Paget Disease (JPD) may develop one or more ocular changes, some of which can lead to blindness.
Ocular changes in JPD:
(1) optic nerve pallor secondary to compression at the orbital apex caused by overgrowth of bone
(2) mottling of the retinal pigment epithelium associated with changes in Bruch membrane
(3) peripapillary retinal atrophy
(4) angioid streaks (lesions that run beneath the retinal vessels that appear as dark red to gray lesions extending radially from the optic disc)
(5) chorioidal neovascularization
(6) subretinal hemorrhage after ocular trauma
The severity of the retinopathy increases with age. Progression of choroidal neovascularization is associated with loss of vision.
A patient with JPD should have regular ophthalmologic exams. A macular Amsler grid may be helpful for detecting metamorphopsia associated with choroidal neovascularization. The patient should report any change in vision.
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