Screening for mt-DNA mutations in optic neuritis of unknown cause.
OBJECTIVE
To investigate mitochondrial DNA (mt-DNA) mutations in optic neuritis of unknown cause (ONUC) and to assess the practical value of mt-DNA mutation detection in etiologically and differentially diagnosing ONUC.


METHODS
Thirty patients with ONUC were screened for mt-DNA mutations of nt11778, nt3460 and nt15257 by using SSCP, mutation-specific primer PCR and sequencing.


RESULTS
mt-DNA mutations were found in twelve of thirty ONUC patients. All of the mutations were at nt11778 position, but no one at nt3460 and nt15257.


CONCLUSIONS
Forty percent (12/30) of ONUC patients were caused by an mt-DNA mutation. Combined with other routine measures, screening for mt-DNA mutations in ONUC patients is of great significance in diagnosing ONUC etiologically and differentially.
Guo
L
L
Zhongshan Ophthalmic Center, Sun Yat-Sen University of Medical Sciences, Guangzhou 510060, China.
Jia
X
X
Xiao
X
X
Guo
X
X
Yu
Q
Q
Li
M
M
Li
S
S
Zhang
Q
Q
D000293:Adolescent; D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009902:Optic Neuritis / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial