Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation

H Zhao, M Shi, F Yang, X Yang - Neurosciences Journal, 2022 - nsj.org.sa
Kearns-Sayre Syndrome (KSS) is a subtype of chronic progressive external
ophthalmoplegia (CPEO). In this case, A 21-year-old man diagnosed with KSS, and …

Novel SLC25A4 variant causes mitochondrial depletion rather than Kearns-Sayre syndrome

J Finsterer - Neurosciences Journal, 2022 - nsj.org.sa
We have read with interest the article by Zhao et al1 on a 21 years-old male with Kearns-
Sayre syndrome (KSS) due to the novel variant c. 170G> C in SLC25A4 which led to …

Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively

J Finsterer, S Zarrouk-Mahjoub - Oxford Medical Case Reports, 2016 - academic.oup.com
We read the article by Leal et al. with interest about a 17-year-old male with Kearns–Sayre
syndrome (KSS), diagnosed upon the clinical presentation, instrumental findings and the …

Retinoschisis associated with Kearns-Sayre syndrome

J Chertkof, RB Hufnagel, D Blain, AL Gropman… - Ophthalmic …, 2020 - Taylor & Francis
ABSTRACT Background Kearns-Sayre Syndrome (KSS) is characterized by pigmentary
retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old …

Diagnosis and management of Kearns-Sayre syndrome rely on comprehensive clinical evaluation

M Yu, L Yu, ZX Wang - Chinese Medical Journal, 2016 - mednexus.org
In this paper, we reported 19 Kearns-Sayre syndrome (KSS) patients whose diagnoses were
in accordance with the current clinical diagnostic criteria of KSS, ie, the triad of progressive …

A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation

M Leal, C Dhoble, J Lee, D Lopez… - Oxford Medical Case …, 2016 - academic.oup.com
Kearns–Sayre syndrome (KSS) was first described in 1958 as 'a rare neuromuscular
disorder defined by a characteristic triad of progressive external ophthalmoplegia …

[HTML][HTML] Diagnosing Kearns-Sayre syndrome requires clinical and genetic evidence

J Finsterer - Journal of Family Medicine and Primary Care, 2023 - journals.lww.com
We read with interest the article by Richmond et al. who reported on two patients with
Kearns-Sayre syndrome (KSS), a 30-year-old female (patient-1) who phenotypically …

Kearns-Sayre syndrome: A case report

L Gaboune, N Benfdil, R Khoumiri… - Journal Francais D' …, 2012 - europepmc.org
Kearns-Sayre syndrome (KSS), first described in 1958, is a multisystem disease defined by
a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and …

[HTML][HTML] Unusual phenotype and disease trajectory in Kearns–Sayre syndrome

J Finsterer, M Winklehner, C Stöllberger… - Case Reports in …, 2020 - hindawi.com
Objective. To describe unusual course and unusual phenotypic features in an adult patient
with Kearns–Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with …

[HTML][HTML] Kearns–Sayre syndrome with a novel large-scale deletion: a case report

Q Zhu, C Chen, J Yao - BMC ophthalmology, 2022 - Springer
Abstract Background Kearns–Sayre syndrome (KSS) is a rare, multisystem mitochondrial
encephalomyopathy. We report a case of KSS with a novel 7.6-kb deletion as assessed …