Congenital blindness and osteoporosis-pseudoglioma syndrome

J AAPOS. 2003 Feb;7(1):75-7. doi: 10.1067/mpa.2003.S109185310300051X.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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