Examination of the retinal tissues obtained at necropsy from a 14-year-old boy with Kearns-Sayre syndrome showed marked photoreceptor and pigment epithelial cell loss in the retinal periphery and around the optic nerve head. Electron microscopy of surviving retinal pigment epithelial (RPE) cells indicated a loss of apical microvilli and basal infoldings. The RPE was unusually devoid of melanoso...

To cite: Sharma AK, Jain N, Kharwar RB, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016216500 DESCRIPTION We describe the images of a 27-year-old man presenting with recurrent syncope due to complete heart block (figure 1). The patient, on further examination, showed ophthalmoplegia, bilateral ptosis (figure 2) and pigmentary retinopathy (figure 3). Ke...

Kearns-Sayre syndrome is a rare disease linked to mitochondrial inheritance. The characteristic diagnostic triad consists of progressive external ophthalmoplegia, pigmentary degeneration of the retina, and atrioventricular block.1 It may also be associated with mental retardation, ataxia, deafness, muscle weakness, and endocrine disorders, such as diabetes mellitus or hypothyroidism. We present...

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder, and the effects of radiotherapy on such population group are unknown. A 60-year-old male with history KSS was diagnosed locally advanced basal cell carcinoma along left inner canthus. He treated at our institution curative intent alone tolerated it well no major acute or late toxicities. There complete clinical radiological response ...

Complete heart block has a varied aetiology; commoner being ischaemia and senile degeneration of AV node. In this article we report a case of complete heart block (AV nodal) in patient of Kearns Sayre Syndrome who has incidently SA node disease also which is further rarer in this disorder.

The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development of progressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows tha...