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: Dave H Lee, Deborah Wenkert, Michael P Whyte, Michael T Trese, Oscar A Cruz
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 7 Issue 1 Pg. 75-7 (Feb 2003) ISSN: 1091-8531 [Print] United States
• PMID: 12690376 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Arthrography
• Blindness (complications, congenital)
• Female
• Femur (diagnostic imaging)
• Glioma (complications)
• Humans
• Infant, Newborn
• Knee Joint (diagnostic imaging)
• Osteoporosis (complications, diagnostic imaging)
• Syndrome