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Kearns‐Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy
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1993
Year
Kearns-sayre SyndromeOcular DiseasePathologyMendelian DisorderMitochondrial BiogenesisMitochondrial TherapyKearns‐sayre SyndromeLeber Hereditary Optic NeuropathyNeuropathologyMitochondrial DnaPigmentary RetinopathyOphthalmologyOcular PathologyX-linked ChoroideremiaMitochondrial FunctionGenetic DisorderExperimental OphthalmologyMitochondrial MedicineMedicine
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.