title: Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy.
abstract: 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.
authors.affiliation: Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: N H
authors.initials: NH
authors.lastname: Herzberg
authors.forename: M J
authors.initials: MJ
authors.lastname: van Schooneveld
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
authors.forename: R
authors.initials: R
authors.lastname: Zwart
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
authors.forename: M
authors.initials: M
authors.lastname: de Visser
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial