Microphthalmos

The diagnosis of the microphthalmic is set when the length of the anterior-posterior axis of the eyeball is less than normal and corresponds to 21 mm in an adult and 19 mm in a one-year-old child.

The visual acuity in microphthalmos depends on its severity and the presence of concomitant pathology. In some cases, vision may correspond to normal, but with a severe pathology it is significantly reduced. The functional prognosis for microphthalmia to avoid errors must be extremely cautious, and the size of the eyeball is not its only criterion.

[1], [2], [3], [4]

Isolated microphthalmos

• Idiopathic.
• Hereditary:
  • autosomal dominant;
  • autosomal recessive;
  • X-linked.

Microphthalmia in combination with other pathology of the organ of vision

Usually accompanied by the following changes.

1. The pathology of development of two segments of the eyeball - Peters syndrome (Peters), Reiger syndrome, etc.
2. Cataract.
3. Persistent hyperplasia of the vitreous body (PGST).
4. Retinal diseases - retinopathy of prematurity (RN), dysplasia and folding of the retina, etc.
5. An aniridium.
6. Colobomatous microphthalmos. The presence of colobomas is not uncommon for both an isolated microphthalmus, and for its combinations with common diseases.

Microphthalmia in general diseases

1. Temple Al-Gazali Syndrome: microphthalmos, aplasia of the skin and sclerocornea in the deletion of Chr22.2-PTER.
2. Chromosome syndromes. In the overwhelming majority of cases they are accompanied by Kolobars.
3. Mental has lagged behind.
4. Macrosomy: cleft palate.
5. Malformations of the head:
   • defects of the midline of the brain;
   • oculo-facial syndrome with embryonic impairment of differentiation;
   • front-facial nasal dysplasia.
6. Delleman's syndrome: papillomas, perforated skin of the auricles, mental retardation, hydrocephalus, cysts of the orbit, etc.
7. Ectodermal dysplasia.
8. Intrauterine infections.
9. Toxic effect on the fetus.

Microphthalmus in combination with cysts orbit

Microphthalmus (usually very pronounced) in such cases usually has a colobomatous character and is accompanied by the development of cysts in orbit. Increasing in volume, cysts cause swelling and transillumination of the lower eyelid. Since the cysts are connected to the eyeball, their removal carries a risk of damage to the eye.

Cryptophthalmos

1. Full cryptophthalmos. Replacing the eyelids with the skin, while eyelashes and glands of the eyelids are absent. The conjunctival cavity is not formed.
2. Partial cryptophthalmos. Lip colonies, fusion of the eyelids with the cornea. The eye is reduced in size. Fraser Syndrome (Fraser) - includes cryptophthalmos, syndactyly, deformation of the nose, low hair growth on the lateral forehead surfaces and usually mental retardation.

Fraser Syndrome. Incomplete cryptophthalmos of the left eye. The eye is reduced in size. The opacity of the cornea. Koloboma and partial fusion of the upper eyelid on the left. Ipsilateral deformity of the nose. Characteristic of low hair growth on the lateral forehead surfaces

[5], [6], [7]

Nanophthalmos

Nanophthalm is a special form of microphthalmus, characterized by a decrease in the size of the eyeball, a large thickness of the scleral capsule and hypermetropia of high degree. There is a tendency to develop a closed-angle glaucoma. When performing cavitary surgery in these patients, the risk of vitreous prolapse is increased.

NanoPaft. Eyes are reduced in size. The pathological reflex of the fundus is caused by hypermetropia of a high degree. The anterior chamber is shallow (this can not be seen in the illustration). Such eyes tend to develop an angle-closure glaucoma. The disc of the optic nerve is often deformed, characterized by the deposition of a yellow pigment in the foveolar region, localized between the foveolar zone and the optic nerve disc

Cyclopia

The condition in which both eyes are formed as one organ, without getting a separate development. Vision is usually very low. The disease is accompanied by severe brain damage.

[8], [9], [10], [11], [12], [13], [14]

Microphthalmic diagnostics

• Verification of visual acuity.
• Determination of refraction.
• Electrophysiological study to evaluate visual function.
• General examination to identify concomitant malformations.
• Patients are selected cosmetic contact lenses and recommend the use of special instruments designed for people with low vision.

Microphthalmus with concomitant cyst formation (left eye). Anophthalmus (right eye). At the child at a birth the anophthalmos on the right and the expressed colobomatous microphthalmos on the left are diagnosed. Bluish edema was initially mistaken for a vascular abnormality, but the presence of transillumination helped to detect a concomitant microphthalmus cyst

Two-sided microphthalmos without concomitant colobomas, in adulthood