Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy.
case_report · Level V
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- Record sourced from PubMed, PMID 8423892.
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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.
Medical subject headings
- Choroideremia
- DNA, Mitochondrial
- Kearns-Sayre Syndrome
- Sequence Deletion