Why can a person have blue sclera? Such an unusual color of eye proteins should always be alarming. After all, often this indicates serious health problems. Of particular concern should be the color of the sclera in children. This can 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 Sclera Color Change
Why do some people have blue sclera? Most often, such an unusual shade is associated with the fact that the protein shell of the eyes becomes thinner and blood vessels shine through it. Hence the bluish color of the proteins.
There are other pathological conditions, a symptom of which are blue sclera. The cause of vascular translucency through protein may be a lack of collagen and connective tissue fibers in the eye tissues.
A bluish color of proteins can also be observed with an excess of mucopolysaccharides in the body. Such a metabolic disorder can cause immaturity of the connective tissue and translucence of blood vessels.
However, not always a change in the color of the eye protein indicates pathology. Bluish sclera can occur in older people. The reason for this is age-related changes.
Sometimes there are blue sclera in a child in 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 this symptom is associated with a lack of pigment in proteins. If the baby is healthy, then by about the sixth month of life, the color of the sclera is normal. If the bluish color of the protein persists, then this most likely indicates genetic diseases. In this case, the baby also has other pathological symptoms that depend on the type of ailment.
Possible diseases
What pathologies does the patient have blue sclera in? 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 hereditary. Such diseases include:
- Lobstein-van der Heve syndrome;
- Marfan syndrome;
- elastic pseudoxanthoma;
- Coulin de Vries syndrome;
- Ehlers-Danlo syndrome.
These are quite rare pathologies. With them, blue sclera is often observed in a baby from birth.
The second group includes diseases of the blood and bones:
- Iron-deficiency anemia;
- Diamond-Blackfen anemia;
- acid phosphatase deficiency;
- Paget's disease.
With these pathologies, the blue color of the sclera is caused by dystrophic changes in the cornea of the eye and a deterioration in the condition of the connective tissue.
The third group includes ophthalmic diseases:
- myopia;
- glaucoma;
- scleromalacia.
These pathologies are not systemic and connective tissue damage is not observed with them.
Lobstein-van der Heve Syndrome
This disease should be considered separately. It is the most common cause of congenital discoloration of the eye proteins. Doctors call this pathology blue sclera syndrome. This is the most noticeable, but far from the only manifestation of this ailment.
This disease is congenital in nature. 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 eye proteins, which does not disappear over time. Photos of blue sclera in a patient can be seen below.
In addition, the following deviations are noted in patients:
- tendency to frequent fractures;
- deformation of the bones of the skeleton;
- bad hearing;
- heart defects;
- defects in the structure of the sky (cleft palate).
Lobstein-van der Heve syndrome is divided into 3 types (depending on the course):
- In the first case, severe bone fractures occur in the prenatal period, as well as during childbirth. In this case, the death of the fetus 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, however, frequent fractures cause severe bone deformities.
- In the third case, fractures are noted at the age of 2-3 years. By puberty, brittle bones are 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 condition of the patient.
Connective tissue disease
Pathologies of connective tissue in which blue sclera are observed are also congenital. It is necessary to pay attention to the accompanying symptoms:
- Marfan's syndrome. Such patients are distinguished by high stature, large arms 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 damage to the fibrous tissue progresses.
- Coulin de Vries syndrome. This is a rare chromosomal abnormality. Sick children have facial structure disorders: irregular nose shape, protruding ears, narrow palpebral fissure. Psychomotor development lags the norm. Half of the patients suffer 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 abnormalities can be noticed in patients. Strips are found on the retina, hemorrhages in the whites of the eyes are often noted.
- Ehlers-Danlo 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. In this case, 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.
Pathology of blood and bone
Different types of anemia lead to a bluish tinge of sclera. Hemoglobin deficiency negatively affects the condition of the connective tissue. This condition is accompanied by weakness, dizziness, and increased fatigue. The patient's skin color becomes pale with a greenish tint.
Diamond-Blackfen Anemia is hereditary. In addition to the above symptoms, it is accompanied by congenital anomalies: a small skull size, drooping eyelids, strabismus, and also a growth retardation 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, convulsions. The prognosis of the disease is extremely unfavorable, children die before the age of 1 year.
The cause of bluish sclera may be Paget's disease. This is an inflammatory disease of the bones, which is accompanied by pain and deformation of the skeleton. At the same time, the level of alkaline phosphatase in the blood increases, 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 is very thin. The same phenomenon is observed with the congenital form of glaucoma.
In rare cases, a change in the color of the eye proteins may be associated with scleromalacia. This disease affects mainly the elderly. Inflammatory nodules appear on the sclera, which are then necrotic. The cause of the disease are metabolic disorders and vitamin deficiency.
Diagnostics
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 needs to consult other specialists.
At the initial examination, the ophthalmologist conducts the following examinations:
- visual acuity check on a special apparatus;
- fundus examination;
- measurement of intraocular pressure.
Further diagnosis depends on the cause of this 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 alleged diagnosis.
Treatment
The blue color of the sclera is not a separate disease. This is just one of the signs of various ailments. Therefore, treatment will completely depend on the underlying pathology.
Congenital connective tissue diseases cannot be completely cured. Therefore, in such cases, symptomatic therapy is indicated.
With an iron deficiency form of anemia, iron preparations 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, it is recommended to wear glasses or lenses, laser vision correction or an operation to replace the lens. Surgical intervention is also necessary for congenital glaucoma and scleromalacia.