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WHAT IS ANIRIDIA?/DISORDERS

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What disorders are associated with aniridia and what is their treatment ?

Aniridia has no treatment at present. Only the associated disorders can be treated. The most frequent ones are:


Nystagmus:

It is the uncontrollable and involuntary pendular movement of the eye which prevents fixing sight on an object.
Treatment: Consists of blocking the nystagmus, either through surgery or through the use of “pinhole” glasses. Nystagmus can improve up to the age of 15 years.


Cataracts:

This is the opacity of the crystalline or ocular lens. The crystalline is a clear, transparent and flexible lens that bends or stretches to focus nearer or farther objects. It is comparable to a photographic camera.
Cataracts cause:
- Blurry or double vision, increased problems with glare and heightened sensitivity to light.
- Very poor night vision and lack of contrast.
Treatment: Treated by surgery. The opaque crystalline lens is substituted by a transparent intraocular lens or by a lens with an artificial iris. The outcome depends as always on each patient, the condition of the retina, cornea and ocular pressure.

Glaucoma:

High ocular pressure, produced by a failure in the drainage of the liquid of the interior of the eye; causing the eye to accumulate too much liquid and therefore cause elevated pressure in its interior. If it is not controlled and rises too high, it can damage the optic nerve with irreversible loss of vision.

In some patients with aniridia, the drainage system of the eye does not function correctly, perhaps because the root of the iris is stuck to the trabecular system of the camerular angle and reduces the drainage of the aqueous humor from the anterior chamber to the external part of the eye.

In small children in whom the epithelium is more elastic, glaucoma is detected by the increased size and hardness of the ocular globe. Generally it is accompanied by pain and blurry vision, although sometimes no concrete symptoms indicate its occurrence. It is more frequent in the infant or juvenile stage, but it can appear in any moment of life, and for this reason frequent checkups are recommended, at least once a year, to detect glaucoma in time.
Treatment: Glaucoma can be treated with eye drops, pills and, if the pressure still cannot be controlled, surgery. Lost vision cannot be recuperated, but the rise in ocular pressure is halted.
The surgical technique consists of opening new drainage channels, or opening the ones already existing. There are different procedures, the most frequent is trabeculectomy.
The key to the treatment of glaucoma is prevention with eye drops, which becomes a chronic treatment. It is very important that the patient be aware of the need to continually use the drops.

Corneal degeneration:

The cornea is the epithelium which covers the iris and pupil.

The cornea is the part of the eye that is most exposed to external agents, and therefore, more exposed to infections and lesions. The great regenerative capacity of the cells is of great importance. The reproduction of the corneal cells originate in the stem cells located in the limbus, the border area between the cornea and the conjunctiva. Any defect or lack in the reproduction of the stem cells (as occurs with some people with aniridia), causes a loss in the regenerative capacity of the cornea, which tends to opacify, vascularize or ulcerate or make more difficult the recuperation from a transplant or other operations.
The symptoms are: double, distorted or blurry vision.
Treatment: This is treated surgically by corneal transplant or keratoplastia or by scraping the cornea (keratectomy) and by limbal transplant. Also, attempts are being made to transplant amniotic cells to help the corneal regeneration.
A transplant of the limbus can cause post-operative problems, since it is in a vascularized area, there are more possibilities of rejection and the patient must follow an immune-suppressant treatment.

Hypoplasia of the optic nerve and the macular:

Lack of development of the optic nerve and of this part of the retina (through which fine vision is perceived), causing low visual acuity.

Strabismus:

Poor ocular alignment.

Amblyopia:

The eye with better vision is used more often, which causes the other eye to become “lazy”.

Luxation of crystalline lens:

Dislocation of the lens.

Dry eye:

Disorder in the lachrymal secretions.

Wilms tumor:

Tumor of the kidney.
The symptoms are: Abdominal mass that causes abdominal pain and inflammation, fever and general indisposition, although sometimes there are no clear symptoms, and in small children it is very difficult to detect. It is necessary to detect it through ultrasounds, scanners or magnetic resonance, when it is still in the initial stage and has not spread to other organs of the body. In these cases the percentage of survival is very high. Checkups are carried out in infancy (up to 6 years of age) which is the time of highest risk.
Frequently it is unilateral, (in one kidney), although it can occur in both, which complicates its treatment.
Treatment: The treatment is a combination of chemotherapy and kidney extirpation through surgery, when it is in the initial phase, well localized and has not extended to other organs of the body. In this case, the treatment is usually successful.

Cerebellar ataxia:

Discoordination of movements (Gillespie Syndrome).


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