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Timothy Y. Y. Lai, MMedSc, MRCS

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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 . . . [Full Text of this Article]

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RELATED LETTER

Osteoporosis-Pseudoglioma Syndrome May Not Be Caused by Persistent Fetal Vasculature
Michael P. Blair and Michael J. Shapiro
Arch Ophthalmol. 2007;125(3):432-433.
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