From Big Medical Encyclopedia

OPHTHALMOPLEGIA CHRONIC PROGRESSING (grech, ophthalmos of eyes + plege blow; grech, chronicos long-term; lat. progressio advance; synonym: disease Gref, the chronic progressing paralysis of muscles of eyeglobes) — the hereditary disease which is characterized by incremental paresis and paralyzes of outside oculomotor muscles. It is for the first time described in 1868 A. Gref. According to many researchers, O. x. the item is display of dystrophy of outside muscles of an eye.

The disease begins more often at children's or youthful age, is transmitted on autosomal dominantly type with low penetrance; in 50% sporadic cases are observed. O.'s combination is described x. the item with an atypical pigmental retinitis, a cardiomyopathy and decrease in intelligence.

Pathological anatomy

In oculomotor muscles find atrophied and hypertrophied fibers, disappearance of their cross striation, between fibers moderate growths of connecting fabric meet. At electronic microscopic examination in podsarkolemmalny space and around kernels of muscle fibers accumulations much of the increased mitochondrions come to light. Cristas in them are located preferential on the periphery, in nek-ry mitochondrions parakri-stalloidny inclusions meet. Near the changed mitochondrions inclusions of lipids quite often are located.

Clinical picture

First symptom of O. x. the item is ptosis (see), as a rule, symmetric, slowly accruing; later paralysis of oculomotor muscles joins. At survey restriction of mobility of eyeglobes extensively comes to light. Doubling most often is absent, pupillary tests are kept. Further compensatory reduction of frontal muscles with a pripodnimaniye of eyebrows is observed that reminds a face of the falling asleep person («Getchinson's face») and a deviation of the head back. Sometimes weakness of mimic muscles, first of all a circular muscle of an eye, and also a slight hypotrophy and weakness of muscles of a neck and upper extremities joins. Course of a disease slow. The full outside ophthalmoplegia develops in 15 — 20 years after emergence of the first symptoms of a disease.

The diagnosis

the Diagnosis is established on the basis of typical by a wedge, pictures, and also given to an electromyography — shortening of duration of potential and decrease in a voltage on EMG. In some cases at doubts the biopsy of muscles of an eye can be made.

Differential diagnosis carry out first of all with myasthenia (see), nek-ry forms myopathies (see) and myatonias (see). From O. x. the item should distinguish also a miositis of outside muscles of eyes, at Krom there can be signs of inflammatory damage of these muscles, however the considerable ptosis is observed seldom. Unlike O. x. the item the Ekzoftalmichesky ophthalmoplegia is characterized by existence of hypostasis of periorbital fabrics, and also dysfunction of a thyroid gland. Nek-ry manifestations of an ophthalmoplegia can be noted at defeat of kernels of third cranial nerves owing to inflammatory process or a tumor of a brain, but then along with outside muscles are surprised, as a rule, and internal muscles of an eye, and also symptoms of conduction frustration come to light. At the peculiar outside ophthalmoplegia which is gradually developing at the progressing nadjyaderny paralysis (Steel's disease — Richardson — Olszewski), unlike O. x. the item is absent a ptosis, reflex movements of eyes are kept, the amimia, a bradylalia develop and pseudobulbar symptoms Appear.

Treatment and Forecast

Treatment generally symptomatic. Sometimes use special points (see) or contact lenses (see), providing a pripodnimaniye of an upper eyelid. In some cases recommend operational treatment for the purpose of partial reduction of a ptosis.

The forecast for life favorable. Process can stop, accurate remissions are not observed.

See also Ophthalmoplegia .

Bibliography: Sokolina N. A., etc. Ophthalmoplegic Myopathy, Zhurn, neuropath, and psikhiat., t. 80, No. 11, page 1607, 1980, bibliogr.; Davidson S. J. Ocular myopathy, Trans. Ophthal. Soc. U. K., v. 90, p. 139, 1970; K i 1 o h L. G. a. N e v i n S. Progressive dystrophy of the external ocular muscles (ocular myopathy), Brain, v. 74, p. 115, 1951; Ross R. T. Ocular myopathy sensitive to curare, ibid., v. 86, p. 67, 1963; Sachsenweger R. Augenmuskellahmungen, Lpz., 1966; Schulze F. Die Ophthal-mo-Elektromyographie, Zur Analyse der Augenmotilitatsstorungene, Lpz., 1972.

H. A. Ilyina.