Extraocular muscle extensive fibrosis syndrome

Introduction to extensive fibrosis syndrome of extraocular muscles The extra-extraordinary muscle extensive syndrome (general extraocular muscles fibrosis syndrome) is a congenital muscle fascia differentiation abnormality of all the extraocular muscles of both eyes or monocular. Almost all extraocular muscle tissue is replaced by fibrous tissue, which is an extraocular muscle hypoplasia. It is a rare family clinical autosomal dominant disease. basic knowledge The proportion of illness: 0.001% Susceptible people: no special people Mode of infection: non-infectious Complications: amblyopia, ptosis, internal ecdysis, nystagmus

The cause of extensive fibrosis syndrome in extraocular muscles

(1) Causes of the disease

Congenital extraocular muscle fibrosis syndrome is autosomal dominant and can also be sporadic. It is a congenital muscle and fascial dysplasia, but the real cause is still unclear.

(two) pathogenesis

Investigating its pathogenesis, some people think that the primary lesions are abnormal in the motor nerves, including the brainstem nerve nucleus. Some people think that the lesions are in the muscle itself. In recent years, a large number of fibrous tissue hyperplasia has been found in the iliac muscle surgery, and the muscle is fibrous tissue. Instead of and adhering to each other, the muscles and the sclera and the ocular fascia adhere to each other. The electromyogram confirms that the muscle is a pathological multiphasic spike, and the time value is prolonged. Some people who have such histology and electromyography prove that the muscle itself is problematic. Known as congenital eye myopathy (ophthalmomyopathiacongenita).

Extraocular muscle extensive fibrosis syndrome prevention

There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.

Extraocular muscle extensive fibrosis syndrome complications Complications, amblyopia, ptosis, ecchymosis

Amblyopia and ptosis, as well as esotropia, exotropia, congenital reverse internal ecdysis, horizontal or rotational nystagmus.

Symptoms of extensive fibrosis syndrome of extraocular muscles Common symptoms Eyeball can not be free to squint sacral ptosis strabismic amblyopia eyeball retraction

Clinical type

According to the degree of extraocular muscle fibrosis and the involvement of extraocular muscles, the disease can be divided into five types:

(1) Congenital fixed strabismus: Congenital fibrosis of the horizontal muscle, which occurs in the medial rectus muscle and is severely slanted. It occurs in the lateral rectus muscle and is severely exotropic. The literature reports that the internal oblique is more.

(2) Extensive extraocular muscle fibrosis syndrome: Fibrosis occurs in more than 2 extraocular muscles in the ipsilateral eye or in the upper diaphragm.

(3) Congenital lower rectus muscle fibrosis.

(4) Congenital superior rectus muscle fibrosis.

(5) congenital monocular with eyeball retraction All extraocular muscle fibrosis and ptosis, this type is rare.

2. Clinical features

According to Laughling, Letson, Crawford and domestic literature, the disease has the following clinical features:

(1) Congenital onset, positive family history, autosomal dominant inheritance, individual sporadic cases, no progression and remission.

(2) The eyeball cannot be turned up and down, and cannot be rotated horizontally or slightly horizontally.

(3) The eyes are drooping.

(4) No Bell phenomenon.

(5) The eyes are fixed at the position of downward gaze, 20° to 30° below the horizontal line.

(6) The lower jaw is lifted and the head is tilted backwards.

(7) The bulbar conjunctiva is inelastic and brittle.

(8) Extraocular muscles, adhesion between the fascia of the eyeball and the eyeball, hypertrophy of the ligament, muscle fusion, and abnormal attachment of the extraocular muscles, such as receding, offset, branching, and foot-plate attachment.

(9) often suffer from amblyopia.

(10) When pulling the test, the eyeball can not be rotated in all directions.

(11) When gazing upward or sideways, there is paradoxical convergence during lateral gaze or paradoxical divergence during lateral gaze.

Examination of extensive fibrosis syndrome of extraocular muscles

No special laboratory tests.

Pathological examination of the extraocular muscles revealed that the ocular muscle fibers (including the upper iliac muscle) or the fascia of the eye were replaced by fibrous tissue, and a small amount of chronic inflammatory cell infiltration was scattered.

Diagnosis and differentiation of extraocular muscle extensive fibrosis syndrome

diagnosis

The diagnosis of this disease is special clinical symptoms, traction test, family history, according to the traction test, surgical findings and extraocular muscle pathology results are not difficult to diagnose.

Differential diagnosis

The disease should be differentiated from congenital extraocular muscle paralysis and chronic progressive extraocular muscle paralysis.

1. Congenital total ophthalmoplegia (congenital total ophthalmoplegia) is the four vertical muscles of the two eyes and the two horizontal muscles are completely paralyzed, accompanied by the lifting of the diaphragmatic paralysis, so the performance of the upper eyelid ptosis, the eyeball is fixed in the center It can't rotate in any direction. The pupil responds to light normally and has certain vision. The disease can be affected by one eye or both eyes. It may be recessive. The eyeball is not restricted when the eye is pulled during the pull test. Is its identification point.

2. Chronic progressive external ophthalmoplegia (chronic progressive external ophthalmoplegia) is more common in adolescence, some symptoms until 20 to 30 years old, the initial symptoms are monocular ptosis, gradually affecting both eyes, and finally the upper eye to lift the diaphragm function Complete loss, followed by short-term involvement of the ocular rotator muscle, the internal rectus muscle is first involved and produces exotropia, then the vertical movement is limited, the eyeball is fixed in the resting eye position, showing a separate deflection, the disease progresses slowly, the middle is still In the stage, it is autosomal dominant, the pull test is negative, and the pathological change is myogenic atrophy.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.