A 22-year-old woman who was diagnosed as having osteoporosis-pseudoglioma (OPPG) syndrome confirmed by genetic testing was referred for ophthalmic assessment. The patient had no history of pathological fracture with normal x-ray films of the wrist and ankle. However, she was found to have osteoporosis on bone densitometry that showed a low bone mineral density at the spine with a T score of −2.8. She also has other clinical features of OPPG syndrome including short stature and a history of amblyopia in the right eye. Her best-corrected visual acuity was 2/60 OD and 20/30 OS, and the manifest refraction was −2.00 diopter sphere/−2.00 diopter cylinder × 85 OD and −2.50 diopter sphere/−3.00 diopter cylinder × 22 OS. Examination of the anterior segment showed right-sided microphthalmia with a Y-shaped anterior sutural cataract. Fundus examination of the right eye showed a fibrotic band with hyaloid vascular remnants in the vitreous cavity extending from the optic disc consistent with persistent fetal vasculature, formerly known as “persistent hyperplasia of primary vitreous” (Figure). There were diffuse pigmentary changes in the retina bilaterally. Examination of the left eye revealed straightening of the retinal vessels and peripheral latticelike degenerations in the temporal retina.
Lai TYY, Wong VWY, Lam DSC. Asymmetrical Ocular Involvement and Persistent Fetal Vasculature in an Adult With Osteoporosis-Pseudoglioma Syndrome. Arch Ophthalmol. 2006;124(3):422-423. doi:10.1001/archopht.124.3.422