Congenital blindness and osteoporosis-pseudoglioma syndrome.
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.
Lee
Dave H
DH
St Louis University Eye Institute, St Louis, MO 63104, USA.
Wenkert
Deborah
D
Whyte
Michael P
MP
Trese
Michael T
MT
Cruz
Oscar A
OA
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