Kearns-sayre syndrome (ophthalmoplegia plus syndrome; kearns-shy syndrome; kearns disease) 6

General: Etiology unknown; sporadic (nonhereditary); onset before age 20 years; external 353j92d ophthalmoplegia; complete heart block.

Ocular: Pigmentary degeneration of retina; progressive external ophthalmoplegia; corneal decompensation; optic neuritis.

Clinical: Abnormal mitochondria with paracrystalline inclusion in muscle cell; heart block; limb weakness; hyperglycemic acidotic coma; death; cerebellar dysfunction.

Bachynski BN, et al. Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome. Ophthalmology 1986; 93: 391-396.

Chang TS, et al. Corneal decompensation in mitochondrial ophthalmoplegia plus (Kearns-Sayre) syndrome. A clinicopathologic case report. Cornea 1994; 13:269-273.

DiMauro S, Schon EA, Rowland LP. Mitochondrial encephalopathies. In: Rowland LP, ed. Merritts Textbook of Neurology, 9th ed. Philadelphia: Williams & Wilkins, 1995:620.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Jean R, et al. Kearns' syndrome with metabolic disorders. Arch Fr Pediatr 1972; 29:436.

Kearns TPM, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophthalmol 1958; 60:280-289.

Menkes JR. Kearns-Sayre syndrome. In: Menkes JR, ed. Textbook of Child Neurology, 5th ed. Williams & Wilkins, 1995:851-852.

Ota y, et al. Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion. Retina 1994; 14: 270-276.