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Chronic progressive external ophthalmoplegia (cpeo; ophthalmoplegia plus)  250


Chronic Progressive External Ophthalmoplegia (CPEO; Ophthalmoplegia Plus)          250

General: 949g62j A general term covering many conditions; onset at any age; familial history; conditions associated with CPEO include myotonic dystrophy, Kearns-Sayre syndrome, Stephens syndrome, and oculopharyngeal dystrophy; disorders that rarely cause external ophthalmoplegia include congenital disorders (abetalipoproteinemia, Refsum disease, extraocular fibrosis syndrome, Möbius syndrome), progressive supranuclear palsy, endocrine exophthalmos, myasthenia gravis, and multiple sclerosis; now considered to be a mitochondrial cytopathy with varied clinical presentation; four distinct disorders of ophthalmic importance are (i) CPEO or Kearns-Sayre syndrome, (ii) myoclonus epilepsy with ragged red fibers (MERRF), (in) mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS), and (iv) Leber optic neuropathy.

Ocular: Exposure keratopathy; filamentary keratitis; keratoconjunctivitis sicca; corneal scarring; esotropia; exotropia; gaze paralysis; ptosis; levator paralysis; cataract; optic atrophy; diplopia; tapetoretinal degeneration; constriction of visual field; retinitis pigmentosa.



Clinical: Weakness; weight loss; myopathic or Hutchinson facies; cardiac abnormalities; central nervous system abnormalities.

Borchert MS. Diseases of the ocular muscles. In: Albert DM, Jakobiec FA. eds. Principles and Practice of Ophthalmology, vol. IV. Philadelphia: WB Saunders, 1994:3102-3120.

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

Lane CM, Collin JRO. Treatment of ptosis in chronic progressive external ophthalmoplegia. Br J Ophthalmol 1987; 71:290-294.

Shapiro AHV, et al. Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency. Lancet 1988; 1:500.




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