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  • Title: [Kearns-Sayre syndrome: a case report].
    Author: Gaboune L, Baha Ali T, Benfdil N, Khoumiri R, Ouaggag B, Sayouti A, Moutaouakil A.
    Journal: J Fr Ophtalmol; 2012 Nov; 35(9):718.e1-4. PubMed ID: 22981519.
    Abstract:
    Kearns-Sayre syndrome (KSS), first described in 1958, is a multisystem disease defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. These signs are frequently associated with increased cerebrospinal fluid protein level and cerebellar ataxia. This syndrome is caused by deletions in mitochondrial DNA, the age of onset is generally below 20, and the degree of severity differs between patients, as well as the prognosis, which may be fatal. The ocular manifestations include: bilateral ptosis, progressive external ophthalmoplegia and atypical pigmentary retinopathy. By way of this case report, the authors discuss the epidemiologic, clinical and therapeutic aspects of KSS, including the difficulty in managing ptosis in these cases.
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