Conjunctival biopsy in infantile neuroaxonal dystrophy.
OBJECTIVE
To describe a case of infantile neuroaxonal dystrophy with optic nerve atrophy and to discuss the diagnostic role of conjunctival biopsy.


METHODS
We performed a complete ophthalmologic examination and a diagnostic conjunctival biopsy on a girl with a neurodegenerative disease.


RESULTS
On the basis of "spheroid" inclusions in the unmyelinated axons, we diagnosed infantile neuoroaxonal dystrophy.


CONCLUSIONS
Optic atrophy is an important finding in infantile neuroaxonal dystrophy, and conjunctival biopsy is a reliable and very convenient diagnostic test.
Ferreira
R C
RC
Department of Ophthalmology, Children's Hospital, University of Colorado, Denver 80262, USA.
Mierau
G W
GW
Bateman
J B
JB
D001284:Atrophy; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D002675:Child, Preschool; D003228:Conjunctiva / Q000473:pathology*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008854:Microscopy, Electron; D019150:Neuroaxonal Dystrophies / Q000473:pathology*; D009900:Optic Nerve / Q000473:pathology