Aniridia (Anindia)

Aniridia is a congenital absence of the iris of the eye. This is a rare disease that affects approximately 1 in 100,000 people.

The cause of aniridia is most often the division of a small section of the 11th chromosome. This disease can also be caused by mutations in the PAX6, FOXC1 or PITX2 genes. These genes play an important role in the development of the iris during the embryonic stage.

The main symptoms of aniridia:

1. Absence of the iris, white or pink tissue is visible instead.

2. Increased sensitivity of the eyes to light.

3. Visual impairment, usually decreased visual acuity.

4. Strabismus and nystagmus (involuntary eye movements).

5. Photophobia (excessive sensitivity to light).

Aniridia is also often accompanied by a predisposition to the development of renal adenosarcoma, a rare form of kidney cancer. Therefore, patients with aniridia should undergo regular kidney examinations.

Treatment for aniridia involves surgical implantation of an artificial iris, wearing sunglasses, and drug therapy to improve vision. The prognosis for aniridia largely depends on timely diagnosis and adequate treatment.

Aniridia is a rare congenital disease characterized by the absence of the iris of the eye. The iris is a ring-shaped structure that surrounds the pupil and is responsible for changing its size depending on the light. The absence of the iris leads to a general deterioration of vision and may be associated with other diseases.

The causes of Aniridia can be different, but, as a rule, the disease is associated with the division of a small section of the 11th chromosome. In addition, Aniridia may be accompanied by a predisposition to the development of renal adenosarcoma in humans.

Symptoms of Aniridia may include severe light sensitivity, difficulty accommodating the pupil, and blurred vision. In some cases, the disease may not cause obvious symptoms and diagnosis may be difficult.

Treatment for Aniridia is aimed at improving visual function and may include wearing contact lenses or glasses, as well as surgical correction methods. In some cases, patients with Aniridia may be advised to undergo regular testing to identify possible complications such as renal adenosarcoma.

In conclusion, Anindia is a rare congenital disorder that is characterized by the absence of the iris of the eye. Treatment of the disease is aimed at improving visual function and may include wearing contact lenses or glasses, as well as surgical correction methods. Regular examination can help identify possible complications and prevent the development of renal adenosarcoma.

Aniridia is a congenital anomaly of the iris, characterized by the absence of all or part of its color pigment membrane. The common name for this syndrome is anilopia; The variant of the absence of only the central part of the iris is usually referred to as aniridia-anopia. When the pigment layer is partially lost, light entering the retina is no longer refracted to fully enter the eye, often resulting in temporary or permanent vision loss. Although aniridia is uncommon, it is a rare genetic disorder. The characteristics of the disease are caused by a violation of the synthesis of a certain type of protein, one of the protein products of cholesterol metabolism. Congenital absence of the central part of the iris occurs during the development of the embryo due to the loss of a section of the locus on chromosome 11; a known mutation of this gene is ectodermal defective protein 1 (Eda-1), which encodes the synthesis of a special protein. This defective gene results in a lack or absence of receptors for melanin, which is deposited in the skin and smooth muscle. Most cases of aniridia-anopia are associated with the presence of a large number of specific mutations in a locus region on the long arm of 11q13, consisting of four double sections of the chromosome. With aniridia, there may be ophthalmological defects associated with varying degrees of vision loss. Since aniridia is usually present in conjunction with other abnormal genes, other ocular abnormalities of varying levels may be observed, such as cataracts, glaucoma, intraocular pressure dysfunction and degenerative changes in the retina, subsequently leading to blindness. It is estimated that with this syndrome, some patients are not only blind themselves, but also have relatives suffering from this anomaly. Prevention of aniridia is based on monitoring the processes of mitosis of neural tube cells. The aneplastic variant of aniridia is often inherited from the mother, so to exclude the development of the syndrome in the family, a woman