Eye fissure

Introduction Eye slanting is one of the clinical symptoms of pediatric eye-ear-spine syndrome.

Cause

The cause of eye cracks:

(1) Causes of the disease:

The cause of this syndrome is unknown.

(2) Pathogenesis:

Two cases reported by Henkincl are cousins and congenital keratomas. Zhang Huan reported that 2 cases of siblings suffered from congenital keratoderma-like tumors and accessory ear growth, so it is speculated that the occurrence of this disease may be related to genetic factors. Gao Baoqing and other reports reported 1 case, the physical signs were complete but the chromosome examination was normal. In 1987, 5 cases were reported by Zhou Dao, and there was no family history of congenital inheritance. It may be the first and second zygomatic arch and embryo abnormalities caused by abnormal blood vessels in the spine and eyes.

an examination

Related inspection

External examination of the eye, eye examination and CT examination of the temporal region

Diagnosis of ocular fissure and skew:

60% to 70% of the cases of this syndrome occur in boys, and their clinical manifestations are more complicated. About 10% of cases are mentally retarded, while most cases show only partial signs. The main signs are as follows.

1. Eye: corneal cutaneous tumor, eyelid defect, ptosis, small cornea and small eyeball, ocular stenosis, cataract, etc.

2. Ears: There are missing ears, front ear canal, deafness and lack of external auditory canal.

3. Facial deformities: such as small deformity, rabbit lips, giant mouth (cheek transverse crack), humeral hypoplasia, uneven teeth and so on.

4. Spinal deformity: manifested as a variety of side bends and bone healing, but also rib abnormalities, skull deformities, limb and foot deformities.

5. Others: There may be cardiovascular malformations, lungs, kidneys, teeth and intelligence abnormalities.

Five cases reported by Zhou Dao, etc., were all at birth. There were 4 males and 1 female, aged 4 to 20 years old. All 5 cases had congenital keratoderma-like tumors, which increased with age. There were 3 cases of upper eyelid defect, 2 cases of small eyeball, small cornea, 1 case of occult eye malformation and no normal structure in the eye. 2 cases had pre-ear auricular malformations, and 1 case had congenital fistulas in front of the ear and combined with deafness. In one case, there was a longitudinal scar in the center of the nose, the scar was about 18 mm long, and the other had a nasal deformity. The X-ray showed thoracic scoliosis and the bone was wedge-shaped. In addition, there are abnormalities such as mental retardation, forehead forehead, rabbit's lips, cleft palate, and irregular teeth. Histopathological examination of corneal surface neoplasms confirmed keratoconus.

Diagnosis is performed based on abnormal signs such as the eye-ear-spinal column. Chromosome examination is normal.

Differential diagnosis

Symptoms of confusion and confusion:

Small eye cracks: Eye cracks are fissures formed between the upper and lower eyelids, which are commonly referred to as eyelids. The important factors affecting the size of the eye crack are the inner skin, followed by the outer one. The inner suede refers to an extra-half-shaped skin wrinkle connecting the upper and lower eyelids at the inner corner of the eye, covering the intersection of the upper and lower eyeliner of the inner palate and the inner lake, meat, etc., so that the inner corner of the eye is an obtuse angle, giving a kind of The feeling of widening the distance and shortness of the eye.

Eyeball deflection: There are many kinds of strabismus, the most common is the inward deflection of the eyeball, medically known as esotropia, commonly known as "to the eye", "cross-eyed". The eyeball is deflected outward, called exotropia, commonly known as "oblique white eye." Of course, strabismus does not only refer to the situation in which the relative positions of the two eyes are obviously deformed, but also includes the case where the inclination is small, the surface is not easy to be perceived, and the binocular vision is not normal, and the cases where there is no oblique position at all but the eyes are abnormal. . Therefore, the concept of strabismus should be understood as the abnormal position of both eyes and the abnormality of both eyes.

Disc tilt: Degenerative myopia has optic disc tilt and nearsighted arc performance. Since the posterior part of the wall of the high myopia is protruding backward, the optic nerve enters the ball obliquely. The side of the optic disc (mostly the temporal side) is displaced backwards, causing the disc to lose its normal slightly elliptical shape under the ophthalmoscope, resulting in a pronounced vertical (or lateral, oblique) elliptical shape, even like a braid. There is a crescent spot at the junction with the rearward displaced side, called the conus, or the extensive conus. The near-axial arc is slightly brown, the boundary is blurred, and the upward traction arc (supertraction conus). The inner side of the stretch myopia arc is white, which is exposed to the sclera, and the outer side is light brown, which is caused by the disappearance of the pigment epithelial layer and the exposure of the choroid. The outer boundary of the myopic arc is clear, but it is often connected with the atrophy area of the posterior pole. The myopic arc is located on the temporal side of the optic disc in most cases, and is also located above or below the iliac crest. More rarely, it is located on the nasal side or the lower side. The former is called the inversive conus; the latter is called the Fuchsconus. When the temporal myopia arc extends outward, upward, and downward, it can surround the entire optic disc, which is the circum papillary chorioretinal atrophy around the optic disc.

60% to 70% of the cases of this syndrome occur in boys, and their clinical manifestations are more complicated. About 10% of cases are mentally retarded, while most cases show only partial signs. The main signs are as follows.

1. Eye: corneal cutaneous tumor, eyelid defect, ptosis, small cornea and small eyeball, ocular stenosis, cataract, etc.

2. Ears: There are missing ears, front ear canal, deafness and lack of external auditory canal.

3. Facial deformities: such as small deformity, rabbit lips, giant mouth (cheek transverse crack), humeral hypoplasia, uneven teeth and so on.

4. Spinal deformity: manifested as a variety of side bends and bone healing, but also rib abnormalities, skull deformities, limb and foot deformities.

5. Others: There may be cardiovascular malformations, lungs, kidneys, teeth and intelligence abnormalities. Five cases reported by Zhou Dao, etc., were all at birth. There were 4 males and 1 female, aged 4 to 20 years old. All 5 cases had congenital keratoderma-like tumors, which increased with age. There were 3 cases of upper eyelid defect, 2 cases of small eyeball, small cornea, 1 case of occult eye malformation and no normal structure in the eye. 2 cases had pre-ear auricular malformations, and 1 case had congenital fistulas in front of the ear and combined with deafness. In one case, there was a longitudinal scar in the center of the nose, the scar was about 18 mm long, and the other had a nasal deformity. The X-ray showed thoracic scoliosis and the bone was wedge-shaped. In addition, there are abnormalities such as mental retardation, forehead forehead, rabbit's lips, cleft palate, and irregular teeth. Histopathological examination of corneal surface neoplasms confirmed keratoconus.

Diagnosis is performed based on abnormal signs such as the eye-ear-spinal column. Chromosome examination is normal.

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