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• W4313454889 abstract "Dear Editor, We eagerly read the article by Pawar et al.[1] about retinopathy in two patients with Kearns–Sayre syndrome (KSS) and one patient each with Senior–Løken syndrome, Hallervorden–Spatz syndrome, and cerebellar ataxia type 7. It was concluded that retinal abnormalities can indicate various genetic disorders and should be carried out with care not to overlook these rare diseases.[1] The study is appealing but raises concerns which require discussion. A limitation of the study is that the diagnosis of KSS was not genetically confirmed.[1] KSS is commonly due to single mitochondrial DNA (mtDNA) deletions and rarely due to the variants m. 3243A >G[2] or m. 3249G >A.[3] Because ophthalmoparesis together with retinopathy may occur in several other syndromic and non-syndromic mitochondrial disorders,[4] it is crucial that the diagnosis KSS is substantiated by documentation of an appropriate pathogenic genetic defect. We disagree with the statement that KSS is an autosomal dominant or autosomal recessive disorder.[1] KSS is due to mtDNA defects and therefore follows a maternal trait of inheritance. Although mtDNA deletions occur sporadically in the vast majority of cases and only 4% of single mtDNA deletions follow a maternal trait of inheritance,[5] we should know if the family history was positive for KSS in either of the two patients. Patient 2 had unrestricted eyeball movements according to the case description.[1] How can KSS be diagnosed in this patient upon the clinical presentation requiring onset <20y, pigmentary retinopathy, and ophthalmoparesis? This discrepancy should be solved. Patient 1 was described with blepharospasm.[1] Blepharospasm is a subtype of dystonia and is so far unreported in KSS. Do the authors actually mean blepharospasm or do they mean blepharoptosis? Dystonia in general has been only rarely reported as a phenotypic feature of KSS.[6] In addition to pigmentary retinopathy, patients with KSS may develop other ocular manifestations such as cataract or congenital anisocoria.[7] There is also one report about KSS and normal-tension glaucoma. Were any of these features present in the two KSS patients? Like KSS, chronic progressive external ophthalmoplegia (CPEO) and Pearson syndrome may be also caused by single mtDNA deletions. In some cases, CPEO and Pearson syndrome evolve into KSS during the course of the disease. We should be told if both patients with KSS had either CPEO or Pearson syndrome before manifesting with KSS. Overall, the interesting study has several limitations that challenge the results and their interpretation. Clarifying these weaknesses would strengthen the conclusions and could improve the study. Before a diagnosis of KSS, the underlying genetic defect should be verified. Availability of data All data are available from the corresponding author. Author contribution JF: design, literature search, discussion, first draft, critical comments, final approval. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest." @default.
• W4313454889 created "2023-01-06" @default.
• W4313454889 creator A5058779655 @default.
• W4313454889 date "2023-01-01" @default.
• W4313454889 modified "2023-10-14" @default.
• W4313454889 title "Diagnosis of Kearns–Sayre syndrome requires genetic confirmation" @default.
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• W4313454889 doi "https://doi.org/10.4103/ijo.ijo_2179_22" @default.
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