Individuals normally have one pair of each chromosome, with a total of 23 pairs of chromosomes in the body’s cells. A chromosome duplication (also called partial trisomy) occurs when there is an extra copy of a chromosome segment. A person with a duplication has three copies of a particular chromosome segment instead of the normal two copies.
Each chromosome has a narrowing that divides it into two regions known as the arms of the chromosome: short arm, called “p,” and long arm called “q.” In cat eye syndrome, there is a small extra chromosome that is composed of a segment of the upper half (ter) of the short arm of chromosome 22 and a small region of the long arm (region q11) of chromosome 22 (that is, 22pter -22q11). This extra chromosome 22 is present three or four times (trisomy or tetrasomy) instead of twice in the body’s cells. Visit the following link for a diagram of chromosome 22. The presence of the extra genetic material results in the characteristic signs and symptoms of the cat-eye syndrome.
The diagnosis is made with the karyotype and with the fluorescent in situ hybridization (FISH) technique. Treatment The prognosis depends on the signs and symptoms that are present. In most cases, those affected have a good prognosis with a normal life expectancy. Muscle weakness improves over time. When there are more severe heart abnormalities, abnormalities of the anus or kidneys, those affected have many problems, and sometimes they are serious.
Data from the National Center for Advancing Translational Sciences (NIH) describe cat eye syndrome or cat-eye syndrome as a rare disease, a rare chromosome abnormality that affects various organs and surfaces of the human body.
Information from the Mexican Federation of Rare Diseases (FEMEXER) shows that 7 million people in Mexico suffer from some rare disease, and 80% of these diseases have a genetic origin. That is why there may be more than one in families one member with the same disease.
Therefore, the syndrome is caused by the presence of a
extra chromosome 22, in addition to the two normal copies of chromosome 22.
Cat-eye syndrome can cause problems in different parts of the body, such as the ears, eyes, heart, kidneys, and anal region.
Cat-eye syndrome: they are colobomas of the iris
The American Academy of Ophthalmology indicates that there is no cure for coloboma, and its treatment will depend on the type of condition of the same.
People with coloboma of the iris may wear glasses
color contact so that the iris appears round; surgery can also
correct the appearance of the iris.
Iris colobomas can create the appearance of a second pupil or a black line or groove on the edge of the pupil, which is why the pupil takes an irregular shape similar to a cat’s eye.
In addition to what is observable in the eyes.
Symptoms. Symptoms can be varied but can include the typical abnormality of the eye’s iris called an iris coloboma.
Diagnosis. The diagnosis of cate and e is made through a study of the chromosomes called a karyotype that shows the additional presence of chromosome 22.
It can also be diagnosed with the fluorescent in situ hybridization (FISH) technique.
Treatment. Treatment is established according to the symptoms present in each patient.
The ‘cat’s eye syndrome,’ a disorder suffered by little Aleix, is an extremely peculiar disease. Statistics show one case for every 5,000 live births. This pathology, included in the Rare Diseases registries, is caused by an alteration in chromosome 22. It can cause various symptoms: from mental retardation to ocular occlusion. It is called ‘cat-eye syndrome’ because it usually causes alterations in the pupils. Some affected also tend to have abnormally small eyes.
The disease was accompanied by a coronary disorder (alteration in the mitral valve) in Alex’s case.
THE MAIN DISEASES IN THE EYES OF CATS
Conjunctivitis is one of the most common eye diseases in cats and consists of inflammation of the conjunctiva.
If your feline suffers from it, it is normal to have the white part of the eye reddened, swelling, and ocular discharge with tearing. Also, you may contract and close your eye unintentionally.
The causes of conjunctivitis in cats can be infections, parasites, allergies, irritations, and trauma. Feline flu is one of the diseases that, along with sneezing, cough, fever, and other symptoms, some more severity can cause this disease in your cat’s eyes.
Cataracts consist of the loss of transparency of the lens, which becomes opaque and makes it difficult for the animal to see, and can cause blindness if they are not operated on. They are easy to detect because the pupil turns whitish.
Apart from appearing with age, other frequent causes of this disease in cats’ eyes are diabetes, trauma to the eye, eye inflammations, allergies, and hereditary causes.
It is the inflammation of a layer of the eye called the uvea. In most cases, it is associated with certain diseases and some types of fungi. However, they can also be the consequence of trauma, injury, parasites, and other problems.
The usual symptoms are that the cat feels pain in the area, tears, or is bothered by the light.
If left untreated, cataracts and glaucoma can lead to vision loss.
Trauma or scratches to the eye, among other problems such as uveitis, can lead to glaucoma. If your partner has it, you will be able to observe that the affected eye is taking on a bluish appearance.
This disease in the eyes of cats evolves slowly, but if it is not treated, it can lead to loss of vision and, being painful for them, it can alter their behavior, making them more listless and less active.
This type of ulcer can have many causes: scratches or burns in the eye, a foreign body, certain infectious diseases …
The visible symptoms consist of areas of the eye becoming rough and dull, which can become perforated, excessive tearing, and eye secretions.
Adult Persian, Siamese, Himalayan, or Sphinx cats are more prone to this problem caused by infections, trauma, irritation, or ulcers in the cornea and dry eyes.
Its symptoms are the same as those of corneal ulcers, in addition to the appearance of brown or black plaques on the cornea.