Norrie's disease vs. PHPV: one family's dilemma.
This paper presents the numerous similarities between Norrie's disease and bilateral persistent hyperplastic primary vitreous. A description of each disease is given, as well as a case report which demonstrates the difficulty in distinguishing the two disease processes when there is a negative family history of blindness. A discussion section focuses on the need for a better differential protocol for Norrie's disease, which would aid the clinician when a family history of blindness is absent.
LaRussa
F
F
Norwood Clinic, Dept. of Ophthalmology, Birmingham, AL 35283.
Wesson
M D
MD
D001766:Blindness / Q000151:congenital; D002648:Child; D003638:Deafness / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D006965:Hyperplasia; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012160:Retina / Q000002:abnormalities*; D014822:Vitreous Body / Q000473:pathology*