Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

Symptomatic complete heart block leading to a diagnosis of Kearns–Sayre syndrome

“…KearnseSayre syndrome (KSS) is a rare, genetic 1 condition characterized by a combination of external ophthalmoplegia, pigmentary retinopathy, progressive degeneration of cardiac conduction system, 3 progressive external ophthalmoplegia, 4 mild skeletal muscle weakness, hearing deficiencies, cerebellar signs, impaired cognitive dysfunction, diabetes mellitus and other endocrine disorders. The most important prognostic factor in KSS patients is the cardiac involvement which can occur in almost 60% of the patients, characterized by progressive degeneration of the conduction system, syncopal attacks, heart failure and even sudden cardiac death.…”

Case report: An 8-year-old boy with unusual retinal hyperpigmentation

“…1,2 This usually presents with ptosis, limited eye movement, and 'salt and pepper'-like retinal pigmentary changes. There are also systemic associations like ataxia, dementia, diabetes, and hyperaldosteronism.…”

“…It is rare and classically associated with orbital mass lesions. 1 Other causes, however, have been described, for example, idiopathic intracranial hypertension, 2 fractures, 3 and thyroid eye disease. 4 We present a novel cause of gaze-evoked amaurosis.…”

Progression of Conduction System Disease in a Paced Patient With Kearns‐Sayre Syndrome

“…1 This syndrome was first described by Kearns and Sayre in 1958. 2 We report a patient with progressive conduction disease and the disappearance of spontaneous cardiac impulse formation, during long-term follow-up.…”