PERSISTENT HYPERPLASTIC PRIMARY VITREOUS IN A FAMILY WITH OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

We had the opportunity to investigate the early abnormalities of the e yes in a family with osteoporosis-pseudoglioma syndrome. This syndrome combines severe premature osteoporosis with a bilateral eye disorder, leading to early onset blindness. Using colour doppler imaging in the 4-month-old girl from this affected family we demonstrated persistent hyperplastic primary vitreous in both eyes. Her brother's eyes had de veloped a partially calcified undefined mass. Our observation supports the hypothesis, that the disease gene may encode a matrix protein exp ressed in bone and eye.