Conjunctival biopsy in infantile neuroaxonal dystrophy.

Abstract:

PURPOSE: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.

journal_name

Am J Ophthalmol

authors

Ferreira RC,Mierau GW,Bateman JB

doi

10.1016/s0002-9394(14)71051-7

subject

Has Abstract

pub_date

1997-02-01 00:00:00

pages

264-6

issue

2

eissn

0002-9394

issn

1879-1891

pii

S0002-9394(14)71051-7

journal_volume

123

pub_type

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