Syndrome characterised by unilateral or bilateral progressive weakness of muscles of eyelids, up to severe ptosis, pigmentary degeneration of retina, cardiomegaly/cardiomyopathy, and heart failure. Some cases present cerebellar ataxia, progressive paralysis, sensory deafness for high tones, spasticity, mental deficiency, and short stature. Prevalent in females. Onset before 20 years of age. The syndrome is sometimes classified into an infantile and a juvenile form. Both sexes affected. Aetiology unknown. Sporadic and familial forms known. Autosomal dominant inheritance has been suggested in some cases.
First described jointly by Kearns and Sayre in 1958. The combination of ophthalmoplegia and pigment degeneration had been described earlier by Barnard and Scholz in 1944, Chamlin and Billet in 1950, Erdbrink 1957, etc. In 1946 the British neurologist Paul Sandifer reported ophthalmoplegia and cardiomyopathy. This syndrome has also been designated as the Kearns-Sayre-Daroff syndrome, because Daroff was the first to describe the cerebral spongiform state.
- R. I. Barnard, R. O. Scholz:
Ophthalmoplegia and retinal degeneration.
American Journal of Ophthalmology, Chicago, 1944, 27: 621-624.
- M. Chamlin, E. Billet:
Ophthalmoplegia and pigmentary degeneration of the retina.
Archives of Ophthalmology, Chicago, 1950, 43: 217-223.
- W. L. Erdbrink:
Ocular myopathy associated with retinitis pigmentosa.
Archives of Ophthalmology, Chicago, 1957, 57: 335-338.
- T. P. Kearns, G. P. Sayre:
Retinitis pigmentosa, external ophthalmoplegia and complete heart block.
Archives of Ophthalmology, Chicago, 1958, 60: 280-289.
- T. P. Kearns:
External ophthalmoplegic, pigmentary degeneration of the retina, and cardiomyopathy: A newly recognised syndrome. Transactions of the American Ophthalmological Society, Rochester, 1965, 63: 559-625.
- R. B. Daroff et al.:
Spongiform Encephalopathy with Chronic Progressive External Ophthalmoplegia.
Neurology, 1966, 16: 161-169.