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Kiloh-nevin syndrome (muscular dystrophy of external ocular muscles; ocular myopathy)


Kiloh-Nevin Syndrome (Muscular Dystrophy of External Ocular Muscles; Ocular Myopathy)

General: Etiology unknown; autosomal dominant.

Ocular: Ptosis; orbicularis muscle weakness; ocul 828c26i ar myopathy; diplopia progressing to bilateral myopathic ophthalmoplegia; may be associated with pigmentary retinopathy and heart block (see Kearns-Sayre syndrome).

Clinical: Progressive muscular dystrophy in which facial muscles may be involved; occasionally, hereditary ataxia; pain; myokymia.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Duszowa J, et al. The Kiloh-Nevin syndrome. Klin Oczna 1974; 44:805.

Franzini A, et al. Pain syndrome and focal myokymia due to anterior interosseous neurovascular relationships: report of a case and neurophysiological. J Neurosurg 1995; 82:578-580.

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

Kiloh LG, Nevin S. Progressive dystrophy of the external ocular muscles (ocular myopathy). Brain 1951; 74:115.

Olenius M, Nylen B. Ocular myopathy with palpebral ptosis. Ann Plast Surg 1987; 19:146-l53.




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