title: Congenital blindness and osteoporosis-pseudoglioma syndrome.
abstract: Isteoporosis-pseudoglioma syndrome (OPPG) is a rare heritable entity that features severe osteoporosis and many variable ophthalmic findings leading to congenital or juvenile blindness. These include microphthalmos, cataracts, bilateral pseudogliomatous retinal detachments, and phthisis bulbi. OPPG is usually not suspected until fractures occur, frequently after seemingly minor trauma. We report the ophthalmic findings of an infant girl with OPPG.
authors.affiliation: St Louis University Eye Institute, St Louis, MO 63104, USA.
authors.forename: Dave H
authors.initials: DH
authors.lastname: Lee
authors.forename: Deborah
authors.initials: D
authors.lastname: Wenkert
authors.forename: Michael P
authors.initials: MP
authors.lastname: Whyte
authors.forename: Michael T
authors.initials: MT
authors.lastname: Trese
authors.forename: Oscar A
authors.initials: OA
authors.lastname: Cruz
mesh_terms: D001175:Arthrography; D001766:Blindness / Q000150:complications* / Q000151:congenital*; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005910:Glioma / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D007719:Knee Joint / Q000000981:diagnostic imaging; D010024:Osteoporosis / Q000150:complications* / Q000000981:diagnostic imaging; D013577:Syndrome