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… (More)

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Cite this paper

@article{Herzberg1993KearnsSayreSW, title={Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy.}, author={Nico Herzberg and Mary J van Schooneveld and Elisabeth M. Bleeker-Wagemakers and R. J. Zwart and Frans P. M. Cremers and Marjo S. van der Knaap and Piet A. Bolhuis and M de Visser}, journal={Neurology}, year={1993}, volume={43 1}, pages={218-21} }