title: Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome.
abstract: We had the opportunity to investigate the early abnormalities of the eyes 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 developed a partially calcified undefined mass. Our observation supports the hypothesis, that the disease gene may encode a matrix protein expressed in bone and eye.
authors.affiliation: Department of Pediatrics, University of Innsbruck, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Steichen-Gersdorf
authors.forename: I
authors.initials: I
authors.lastname: Gassner
authors.forename: K
authors.initials: K
authors.lastname: Unsinn
authors.forename: W
authors.initials: W
authors.lastname: Sperl
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D002648:Child; D003241:Consanguinity; D005128:Eye Diseases / Q000473:pathology*; D019066:Facies; D005260:Female; D005910:Glioma / Q000473:pathology*; D006801:Humans; D007223:Infant; D010024:Osteoporosis / Q000473:pathology*; D013577:Syndrome; D014822:Vitreous Body / Q000473:pathology*