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March 2007

Osteoporosis-Pseudoglioma Syndrome May Not Be Caused by Persistent Fetal Vasculature—Reply

Arch Ophthalmol. 2007;125(3):433. doi:10.1001/archopht.125.3.433-a

In reply

I would like to thank Drs Drenser and Trese, Dr Jampol, and Drs Blair and Shapiro for their comments on our photo essay that described PFV in an adult with osteoporosis-pseudoglioma (OPPG) syndrome. As described in the photo essay and in the correspondence, the LRP5 gene mutation detected in our patient has been implicated as a cause for both OPPG syndrome and familial exudative vitreoretinopathy (FEVR). I am pleased that the correspondence by Drs Drenser and Trese as well as Drs Blair and Shapiro brought up the issue that our patient might have FEVR. Until recently, OPPG syndrome and FEVR were thought to be 2 distinct diseases owing to differences in the pathogenesis of visual loss, with failure of hyaloid vasculature regression causing PFV in the former and premature arrest of peripheral retinal vasculature development in the latter.1 Despite these differences, there are some similarities in the phenotypes of patients with OPPG syndrome and FEVR. For instance, reduced bone density has been described in patients with FEVR with LRP5 mutations.1 A recent study2 of 30 patients with OPPG syndrome caused by LRP5 mutations also reported various vitreoretinal findings including both PFV and nonspecific exudative retinopathy among the patients. Therefore, it has been recently proposed that OPPG syndrome and FEVR may be 2 disorders that belong to a single phenotypic spectrum.1 The clinical features observed in our patient support this hypothesis, with retinal changes that may represent both PFV and FEVR associated with LRP5 mutation.

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