Ophthalmic manifestations suggesting Kearns--Sayre Syndrome among young adults with cardiac conduction defects (RCD code: III-1A.5a)

Magdalena Karwat - Szwabowicz, Jagoda Miszczyk

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Abstract


Kearns-Sayre Syndrome is a multisystemic mitochondrial cytopathy characterized by specific ophthalmic signs, cardiac conduction disturbances with endocrine, musculoskeletal and central nervous system involvement. As a highly heterogeneous condition, establishing an accurate diagnosis of this disorder can often be seriously delayed. It usually occurs before the age of 20 with ocular symptoms at first. Cardiac manifestations include progressive degeneration of the conduction tissue, leading to different types of conduction disturbances, which in many cases are responsible for significant decrease of life expectancy. There is currently no causative therapy available for Kearns-Sayre Syndrome patients. Several interventions including ophthalmic or neurological may be necessary in order to improve the quality of life, however improving prognosis in this group of patients impose prompt recognitions of those, who require early pacemaker implantation. Therefore, the aim of this article is to review the current knowledge about Kearns-Sayre Syndrome in light of the most typical ophthalmic findings, which can handily be detected by cardiologists and applied to accelerate accurate diagnosis and elaborate the most appropriate therapeutic strategies. JRCD 2016; 3 (1): 5–8

Keywords


rare disease; mitochondrial cytopathy; sudden cardiac death; pigmented retinopathy; ophthalmoplegia; ptosis; cardiac pacing; electrocardiography

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DOI: http://dx.doi.org/10.20418%2Fjrcd.vol3no1.257

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