Why can a person have blue sclera? Such an unusual color of the whites of the eyes should always be alarming. After all, this often indicates serious he alth problems. Such coloring of the sclera in children should be of particular concern. This may be a symptom of severe congenital diseases. In such cases, it is necessary to consult a doctor as soon as possible, especially if this manifestation is accompanied by other deviations in well-being.
Causes of scleral discoloration
Why do some people have blue eyes? Most often, such an unusual shade is due to the fact that the protein shell of the eyes becomes thinner and blood vessels shine through it. This is where the bluish color of proteins comes from.
There are other pathological conditions that are symptomatic of blue sclera. The reason for the translucence of blood vessels through the protein may be a lack of collagen and connective tissue fibers in the eye tissues.
Bluish colorproteins can also be observed with an excess of mucopolysaccharides in the body. Such a metabolic disorder can cause immaturity of the connective tissue and transillumination of blood vessels.
However, a change in the color of the white of the eye does not always indicate pathology. Bluish sclera can be observed in older people. The reason for this is age-related changes.
Sometimes there are blue sclera in a child of the first months of life. The baby is born with such a feature of the eyes. This does not always indicate a disease; in some cases, such a symptom is associated with a lack of pigment in proteins. If the baby is he althy, then by about the sixth month of life, the color of the sclera is normalized. If the bluish color of the protein persists, then this most likely indicates genetic diseases. At the same time, the baby also has other pathological symptoms, which depend on the type of disease.
Possible diseases
In what pathologies does the patient have blue sclera? These diseases can be divided into three groups.
The first group includes diseases that occur with lesions of the connective tissue. Usually they are congenital and are hereditary. These diseases include:
- Lobstein-Van der Hewe syndrome;
- Marfan syndrome;
- elastic pseudoxanthoma;
- Koulen de Vries syndrome;
- Ehlers-Danlos syndrome.
These are quite rare pathologies. With them, blue sclera is often observed in an infant from birth.
The second group includes diseases of the blood and bones:
- iron deficiency anemia;
- Diamond-Blackfan anemia;
- acid phosphatase deficiency;
- Paget's disease.
With these pathologies, the blue color of the sclera is caused by degenerative changes in the cornea of the eye and deterioration of the connective tissue.
The third group includes ophthalmic diseases:
- myopia;
- glaucoma;
- scleromalacia.
These pathologies are not systemic and do not affect the connective tissue.
Lobstein-Van der Hewe Syndrome
This disease should be considered separately. It is the most common cause of congenital discoloration of the whites of the eyes. Doctors call this pathology blue sclera syndrome. This is the most noticeable, but far from the only manifestation of this disease.
This disease is congenital. According to medical statistics, one child out of 50,000 newborns suffers from this syndrome. The baby is born with a bluish color of the whites of the eyes, which does not disappear over time. A photo of the patient's blue sclera can be seen below.
In addition, patients have the following abnormalities:
- prone to frequent fractures;
- skeletal bone deformities;
- bad hearing;
- heart defects;
- defects in the structure of the sky (cleft palate).
Lobstein-Van der Hewe syndrome is divided into 3 types (depending on the course):
- In the first case, severe bone fractures occurin the prenatal period, as well as during childbirth. In this case, fetal death is often noted. Babies born alive most often die in early childhood.
- In the second case, fractures occur in infancy. Any careless movement of the baby can lead to dislocation. The prognosis for life is more favorable than in the first case, but frequent fractures cause severe bone deformities.
- In the third case, fractures occur at the age of 2-3 years. By puberty, bone fragility is significantly reduced. This is the most favorable course of pathology.
It is completely impossible to cure such a pathology, since it is associated with damage to genes. You can only carry out symptomatic therapy to alleviate the patient's condition.
Connective tissue diseases
Pathologies of the connective tissue, in which blue sclera are observed, are also congenital. It is necessary to pay attention to accompanying symptoms:
- Marfan syndrome. Such patients are characterized by high stature, large arm span and thinness. Patients have reduced vision, a deformed spine, and cardiac abnormalities. The blue color of the sclera is not always noticeable from birth, sometimes the whites of the eyes change color as the fibrous tissue lesion progresses.
- Coolen de Vries syndrome. This is a rare chromosomal anomaly. Sick children have disorders in the structure of the face: an irregular shape of the nose, protruding ears, a narrow palpebral fissure. Psychomotor development lags behind the norm. Halfpatients suffering from epileptic seizures.
- Elastic pseudoxanthoma. This hereditary disease affects the skin and eyes. Papules often form on the epidermis. The patient's skin looks flabby and sags easily. Because of this, patients look older than their age. In addition to blue sclera, other eye anomalies can be seen in patients. Stripes are found on the retina, and hemorrhages in the whites of the eyes are often noted.
- Ehlers-Danlos Syndrome. This congenital disease affects the joints, skin and blood vessels. Patients have excessive mobility and flexibility of the joints, which often leads to dislocations. At the same time, the motor development of the child is delayed due to weak muscle tone. The skin of patients is easily damaged, and wounds heal very slowly.
Pathologies of blood and bones
Different types of anemia lead to a bluish tint to the sclera. The lack of hemoglobin adversely affects the condition of the connective tissue. This condition is accompanied by weakness, dizziness, increased fatigue. The patient's skin color becomes pale with a greenish tint.
Diamond-Blackfan anemia is hereditary. In addition to the above symptoms, it is accompanied by congenital anomalies: small skull size, drooping eyelids, strabismus, and stunted growth of the child.
Severe anemia occurs with congenital acid phosphatase deficiency. This disease in newborns is accompanied by severe vomiting, a drop in blood pressure, and convulsions. The prognosis of the disease is extremely unfavorable, children die before the age of 1 year.
The reason for the bluish color of the sclera may be Paget's disease. This is an inflammatory disease of the bones, which is accompanied by pain and deformities of the skeleton. This increases the level of alkaline phosphatase in the blood, which leads to anemia.
Eye diseases
The blue color of the sclera sometimes accompanies eye diseases. If the patient has a high degree of myopia, then the protein shell of the eye becomes very thin. The same phenomenon is observed in congenital glaucoma.
In rare cases, discoloration of the whites of the eyes may be associated with scleromalacia. This disease mainly affects the elderly. Inflammatory nodules appear on the sclera, which then necrotic. The cause of the disease is metabolic disorders and beriberi.
Diagnosis
When the color of the sclera changes, patients most often turn to an ophthalmologist. However, eye diseases rarely cause a bluish tint of proteins. Most often, this is a sign of connective tissue pathologies or anemia. Therefore, the patient usually requires consultation with other specialists.
During the initial examination, the ophthalmologist performs the following examinations:
- checking visual acuity on a special machine;
- fundus examination;
- measuring intraocular pressure.
Further diagnosis depends on the causethis symptom. If a connective tissue pathology or anemia is suspected, the patient is referred to a geneticist, neurologist or hematologist. Then the specialist prescribes examinations depending on the proposed diagnosis.
Treatment
The blue color of the sclera is not a separate disease. This is just one of the signs of various ailments. Therefore, the treatment will depend entirely on the underlying pathology.
Congenital connective tissue diseases cannot be completely cured. Therefore, symptomatic therapy is indicated in such cases.
For iron deficiency anemia, iron supplements are prescribed. With a congenital decrease in hemoglobin, corticosteroid hormones and red blood cell transfusion are indicated.
If the bluish color of the sclera is associated with myopia, then wearing glasses or lenses, laser vision correction or lens replacement surgery is recommended. Surgery is also needed for congenital glaucoma and scleromalacia.