Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy.
Mitochondrial DNA (mtDNA) was deleted in a patient with Kearns-Sayre syndrome (KSS) presenting with a choroideremia-like fundus picture instead of pigmentary retinopathy. No evidence for X-linked choroideremia was present, and because of the strong association between KSS and deleted mtDNA, we suggest that choroideremia is a phenocopy and can be part of KSS.
Herzberg
N H
NH
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
van Schooneveld
M J
MJ
Bleeker-Wagemakers
E M
EM
Zwart
R
R
Cremers
F P
FP
van der Knaap
M S
MS
Bolhuis
P A
PA
de Visser
M
M
D000328:Adult; D015794:Choroideremia / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000032:analysis*; D006801:Humans; D007621:Karyotyping; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008297:Male; D017384:Sequence Deletion
D004272:DNA, Mitochondrial