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March 2007

Familial Exudative Vitreoretinopathy and Osteoporosis-Pseudoglioma Syndrome Caused by a Mutation in the LRP5 Gene

Arch Ophthalmol. 2007;125(3):431-432. doi:10.1001/archopht.125.3.431-c

This letter is in reference to the photo essay by Lai et al1 titled “Asymmetrical Ocular Involvement and Persistent Fetal Vasculature in an Adult With Osteoporosis-Pseudoglioma Syndrome” in the March 2006 issue of the ARCHIVES. The patient is thought to have persistent fetal vasculature syndrome of the right eye demonstrating a retinal fold, which appears to attach to the peripheral lens, and dragging of the vessels with adjacent pigmentary changes. The photograph shows a picture that is more consistent with familial exudative vitreoretinopathy in the right eye. This is further confirmed by the findings in the left eye, which shows straightening of the retinal vasculature, a dragged macula that is temporally displaced, and specifically peripheral temporal avascular retina with an adjacent area of abnormal vasculature and pigmentation.

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