Chronic Progressive External Ophthalmoplegia, Pigmentary Retinopathy, and Heart Block (Kearns‐sayre Syndrome)

Abstract

Chronic progressive external ophthalmoplegia associated with a pigmentary retinopathy and heart block was described by Kearns & Sayre in 1958. They suggested that the triad represented a syndrome. The cases recorded since then are reviewed and summarised, and several common features are noted. Little attention has previously been paid to the retinopathy. A similar case is presented, and the pigment changes, retinal function, annd fluorescein angiography are examined. There is no clinical evidence for the diagnosis of classical retinitis pigmentosa. The prognosis and aetiology of the condition are discussed.

Retinal energy demands control vascular supply of the retina in development and disease: The role of neuronal lipid and glucose metabolism

“…Unaffected carrier relatives of patients with a more severe mitochondrial disease often have isolated pigmentary retinal changes. Degeneration of RPE, and sometimes degeneration of rod and cone photoreceptors, contributes to (usually mild) vision loss, affecting roughly 50% of patients with known mitochondrial mutations (Bhatti, 2006; de Crecchio et al, 2006; Durlu et al, 1997; Lowes, 1975; McDonald, 2003). …”

Progressive External Ophthalmoplegia

“…(Kbh.) (Lowes 1975) and shows all the characteristics of the foregoing patients to a marked degree. Three muscle biopsies were takenone from the right rectus superior muscle, one from the right levator palpebrae muscle taken a t the time of opcration for ptosis, and one from the left deltoid muscle.…”

“…However, it has become increasingly difficult to explain chronic progressive external ophthalmoplegia as being purely and simply a myopathy of the extraocular muscles. Involvement of other facial muscles, limb musculature, cerebellum, spinal tracts, myocardium, endocrine glands, hearing, and probably most frequent of all, retina, with pigmentary changes and chorioretinal atrophy has amply been described in the recent literature (Alfano & Berger 1957;Kearns & Sayre 1958;Jager et al 1960;Drachman 1968;Rosenberg et al 1968;Daroff 1969;Lowes 1975). Endocrine abnormalities have been reported by Lundberg Abnormal mitochondria in muscle tissue have been demonstrated by Gonatas (1967), Mair & Tom6 (1972), Morgan-Hughes & Mair (1973), Iamaccone et al (1974) and Schlote & Korner (1976).…”