High sky and blue sclera. What causes blue whites of the eyes? Symptoms, diagnostic methods and therapy

The pathology of the sclera has a number of features in comparison with diseases of other membranes of the eye, which is due to the peculiarity of its structure. Scleral diseases are relatively rare, characterized by mild clinical symptoms and sluggish chronic course. In most cases, they are secondary - associated with diseases of the choroid, with which the sclera has a common vascularization and innervation. The main types of scleral pathology are developmental anomalies, inflammatory and degenerative diseases.

Congenital anomalies of the sclera

Congenital anomalies of the sclera include changes in its color (blue sclera, melanosis) and shape (congenital cysts, ectasias).

Blue (blue) sclera can be a manifestation of a number of systemic disorders.

blue sclera syndrome(Lobstein-Van der Heve syndrome) belongs to the group of constitutional anomalies of the connective tissue, caused by multiple gene defects. It is inherited in an autosomal dominant manner with high (71%) pevetrance. It is rare - 1 case per 40,000-60,000 newborns.

Main features of this syndrome are bilateral blue-blue coloration of the sclera, increased bone fragility and hearing loss. The most constant and most pronounced symptom is blue-blue coloration of the sclera, observed in 100% of patients with the syndrome. This coloration is due to the fact that the pigment of the choroid shines through the thinned and unusually transparent sclera. Studies have established thinning of the sclera, a decrease in the number of collagen and elastic fibers, a metachromatic color of the main substance, indicating an increase in the content of mucopolysaccharides, which indicates the immaturity of the fibrous tissue in this syndrome, and the persistence of the embryonic sclera. There is an opinion that the blue-blue color of the sclera is due not so much to its thinning, but to an increase in transparency due to changes in the colloid-chemical properties of the tissue. Based on this, a more correct term for this pathology is proposed - “transparent sclera”.

The blue-blue color of the sclera in this syndrome is detected already at birth; it is more intense than in healthy newborns, and does not disappear by the 5-6th month, as usual. The size of the eyes, as a rule, is not changed. In addition to blue sclera, other eye anomalies can be observed: anterior embryotoxon, iris hypoplasia, zonular or cortical cataract, keratoconus, glaucoma, juvenile choroidal sclerosis, color blindness, corneal opacities of the type of patchy degeneration, etc.

The second symptom of the syndrome- bone fragility, combined with weakness of the articular-ligamentous apparatus, is observed in approximately 65% ​​of patients. This symptom may appear in different dates, depending on which three types of the disease are distinguished. The first type is the most severe lesion, in which fractures occur in utero, during childbirth, or shortly after birth. These children die in utero or in early childhood. In the second type, fractures occur in early childhood. The prognosis for life in these cases is favorable, but due to multiple fractures that occur spontaneously or with little effort, as well as dislocations and subluxations, gross disfiguring deformations of the skeleton remain. The third type is characterized by the appearance of fractures at the age of 2-3 years; the number and danger of their occurrence gradually decreases by puberty. The causes of bone fragility are the extreme porosity of the bone, the lack of calcareous compounds, the embryonic nature of the bone tissue and other manifestations of its hypoplasia.

The third symptom of the syndrome is a progressive hearing loss, which is a consequence of otosclerosis, underdevelopment and calcification of the labyrinth. Hearing loss develops in about half (45-50% of patients).

Sometimes the typical triad in this syndrome is combined with a variety of extraocular anomalies of the mesodermal tissue, of which the most common are congenital heart defects, "cleft palate", syndactyly, etc.

Treatment is symptomatic.

Ehlers-Danlos Syndrome- a disease that has a dominant and autosomal recessive mode of inheritance. It begins at the age of 3 years, is characterized by increased extensibility of the skin, fragility and vulnerability of its vessels, weakness of the articular-ligamentous apparatus. Often these patients have blue sclera, microcornea, keratoconus, subluxation of the lens, retinal detachment. Weakness of the sclera can lead to its rupture even with minor injuries of the eyeball.

Blue sclera can also be a manifestation of Lowe's oculocerebrorenal syndrome, an autosomal recessive disorder that affects only boys. In patients from birth, cataracts are detected in combination with microphthalmos, in 75% of patients intraocular pressure is increased, as a result of which the sclera is stretched and its blue color appears.

Congenital melanosis of the sclera is characterized by its focal or diffuse pigmentation due to pigment hyperplasia of the uveal tissue. Most of the pigment accumulates in the superficial layers of the sclera and episclera, the deep layers of the sclera are relatively poorly pigmented. Pigment cells are typical chromatophores, the long processes of which penetrate between the scleral fibers. Pigmentation of the sclera is usually a manifestation of melanosis of the eye. Congenital melanosis of the sclera is a hereditary disease with a dominant type of inheritance. The process is more often one-sided, only 10% of patients are affected by both eyes [Katsnelson AV, 1957].

With melanosis, the sclera has spots of a grayish-bluish, slate, slightly purple or dark brown color against the background of the usual color. Pigmentation can be in the form of:

1. individual small spots in the perivascular and perineural zones;
2. large isolated islets;
3. color changes in the type of marble sclera.

In addition to melanosis of the sclera, as a rule, pronounced pigmentation of the iris is observed, usually in combination with a violation of its architectonics, dark color of the fundus, disc pigmentation optic nerve. A pericorneal pigmented ring is often seen. Possible pigmentation of the conjunctiva or skin of the eyelids. Melanosis is usually detected from birth; pigmentation increases in the first years of life and in puberty. Diagnosis is based on characteristic clinical picture. Melanosis must be differentiated from melanoblastoma of the ciliary body and choroid.

Melanosis of the sclera and eyes as a whole is not pathological. However, malignant melanomas can develop from pigmented lesions, especially during puberty. In this regard, patients with melanosis should be under dispensary observation.

Scleral melanosis is also observed in alkaptonuria, a hereditary disease associated with impaired tyrosine metabolism. Suffering is due to a deficiency of the enzyme homogetinase, which leads to the accumulation of homogentisic acid in the body. Being deposited in the tissues, it stains them in dark color. Darkening of the sclera and cartilage is characteristic. Brown granules are deposited in the cornea near the limbus at 3 and 9 o'clock. There is a symmetrical lesion of the eyes. With alkaptonuria, pigmentation of the skin of the ears and nose also occurs, urine turns black in air, and osteoarthritis is not uncommon.

Melanosis of the sclera is not subject to treatment.

Yellowish staining of the sclera in combination with exophthalmos, strabismus, retinitis pigmentosa and blindness may be a sign of a congenital disorder of fat metabolism (reticuloendotheliosis, Gaucher disease, Niemann-Pick disease). A change in the color of the sclera such as melanosis can be observed with a hereditary disorder of carbohydrate metabolism - galactosemia.

Congenital cysts of the sclera is a very rare disease. As a rule, there are not isolated scleral cysts, but corneo-scleral lesions. The cyst, usually the size of a small pea, has a wide base, is immovably fixed, filled with transparent watery contents, and spreads approximately equally to the cornea and sclera. The wall of the cyst is a connective tissue formation and is lined with one or more layers of the epithelium. The cyst may connect to the anterior chamber. Cysts tend to grow and can suddenly increase rapidly, often towards the sclera.

Cyst treatment- surgical: the anterior wall of the cyst is excised and scraped, its posterior wall is cleaned.

Dermoid cysts of the sclera are rare; dermoid cysts of the conjunctiva, sclera, and cornea are more common.

Congenital scleral colobomas are a rare anomaly. In the sclera, there is a gap reaching the limbus, through which the choroid bulges.

Intrusion of the sclera into the cornea is a rare anomaly in which the layers of the sclera penetrate the cornea in the form of a sickle.

The presence of cartilage in the sclera is a very rare anomaly. It is characterized by the presence of translucent plates of hyaline cartilage in the sclera.

BLUE SCLERA, OTOSCLEROSIS, PATHOLOGICAL BONE FRAGRANCE SYNDROME(Van der Hewe syndrome). Van der Hoeve in 1916-1917 described a disease that included a triad of symptoms: blue sclera, increased bone fragility, and hearing loss. Blue sclera syndrome belongs to a group of constitutional features of the connective tissue caused by multiple gene defects. The frequency in the population is 1 in 40,000-60,000 births. Blue sclera occurs in 60% of cases. The type of inheritance is autosomal dominant. At histological examination changes in elastic and collagen fibers are found. The reason for the change in the color of the sclera is the thinning and increased transparency of the sclera, as a result of which the choroid is translucent.

Clinic. The most constant and distinct symptom is a peculiar grayish-blue coloration of the sclera observed from birth. Normally, newborns have a bluish coloration of the sclera, associated with the thinness of this membrane and the translucence of the pigment of the choroid through it. By 6 months, the blueness of the sclera gradually disappears and they become whitish in healthy children. Blue sclera is combined with keratoglobus, embryotoxon, megalocornea, corneal opacities of the type of spotted degeneration. Under slit lamp light, the cornea is thinner than normal. Sometimes the sclera are completely blue, the part of them directly adjacent to the cornea is white and is called the "rings of Saturn". Rarely, ectopia of the lens occurs in combination with blue sclera. Refraction is often hyperopic. Bone fractures are constantly noted due to violation of the processes of ossification and dislocation due to weakness of the ligamentous apparatus. Various clinical options syndrome. The triad of symptoms occurs in 1/3 of cases. Fractures may already occur at birth, often appearing in a later period (glass man syndrome), usually associated with blue sclera. A feature of fractures is unsharply expressed soreness. In 90% of patients, hearing changes are found associated with thinning of the eardrum (blue eardrum), dislocation and abnormal development of the auditory ossicles. There may be a hemorrhagic syndrome caused by degeneration of the elastic fibers of the vessels. Variant of blue sclera syndrome with skin changes, characterized by widespread foci on the skin of a grayish-bluish color, ranging in size from millet grain to a penny coin with translucent blue vessels, is called Blegved-Hetauson syndrome. A feature of the foci is their location below the level of the skin due to the degeneration of elastic fibers. The course of the disease is slow, progressive, patients survive to adulthood.

Blue sclera syndrome is more of a symptom, because it does not include anything other than a change in color.

The blue color appears due to the thinning of the transparent collagen (protein) shell of the eye, the translucence of the vessels located below the shells through it.

Diseases

This symptom is one of characteristic features many diseases such as:

• Connective tissue:

1. Marfan syndrome (~1:5,000 of the entire population);
2. Ehlers-Danlos syndrome (hypermobility; ~1:10,000-15,000 people);
3. Lobstein-Vrolik disease (imperfect osteogenesis);
4. pseudoxanthoma elastica (~1:100,000 newborns);
5. Koolen–da Vries syndrome (microdeletion syndrome; ~1:20,000 newborns).

• Bone apparatus and blood:

1. Diamond-Blackfan anemia (congenital form; ~ 4:1,000,000 newborns; fewer than 500 cases reported and described in total);
2. Iron-deficiency anemia;
3. juvenile Paget's disease (osteitis deformans);
4. acid phosphatase deficiency (autosomal recessive inheritance; affected children die at 1 year of age; carriers may have children).

• Eye pathologies not associated with connective tissue diseases:

1. congenital glaucoma (~1:20,000 newborns);
2. myopia (nearsightedness);
3. scleromalacia (thickening or disappearance of the sclera during inflammation).

Differential Diagnosis

The list of diseases in which blue sclera syndrome can be observed is quite large. But it should be borne in mind that in infants of the first year of life, blue sclera is considered the norm, since the collagen membrane in infants is soft and elastic. With age, the blue tint should disappear.

Most often, suddenly blue sclera speak of developing iron deficiency anemia. It also has other symptoms, such as:

• frequent colds;
• slow mental and physical development;
• violation of tissue trophism, including epithelial (dry skin, brittle nails, hair loss);
• hyperactivity;
• thinning of tooth enamel.

The second common disease that makes the sclera blue is osteogenesis imperfecta in various forms. In congenital forms, already at birth, increased bone fragility and an intense blue color of the sclera are revealed.

In old age, discoloration of the sclera can be caused by natural tissue changes. By itself, the changed color of the sclera is not dangerous. Hereditary and congenital diseases diagnosed by other symptoms and studies in the first years of life.

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The whites of the eyes therefore have such a name because they normally have a white color. When a person is sick, the sclera can signal this by changing its color. Blue sclera is the result of thinning of the protein membrane of the eye, consisting of collagen. Because of this, the vessels under the shell are translucent, giving the whites of the eyes a blue tint. Blue sclera is not an independent disease, but in some cases diseases appear.

Blue squirrel: what does it mean? With this phenomenon, the white of the eye acquires a blue, gray-blue or blue-blue hue. It often occurs in newborns, and is often due to gene disorders. This feature can be inherited. It is also called the "transparent sclera". But it does not always indicate that the baby has serious illnesses.

At congenital pathology this symptom is detected immediately after the birth of the child. In the absence of serious pathologies, by six months of a baby's life, this syndrome usually recedes.

If it acts as a symptom of any disease, then by this age it does not disappear. In this case, the size of the organs of vision, as a rule, does not change. The blue white of the eye is often accompanied by other pathologies of the organs of vision, including iris hypoplasia, anterior embryotoxon, corneal clouding, color blindness, etc.

The main cause of the blue protein syndrome is the translucence of the choroid through the thinned sclera, which becomes transparent.

This phenomenon is accompanied by the following changes:

• direct thinning of the sclera;
• decrease in the number of collagen and elastic fibers;
• metachromatic color of the eye substance, indicating an increase in the amount of mucopolysaccharides. This, in turn, suggests that the fibrous tissue is immature.

Blue sclera syndrome: symptoms

Bare sclera is common in children.

This phenomenon may indicate diseases of various organs and systems. Depending on what kind of disease it is, the symptoms can be different.

It can be such ailments:

• connective tissue pathologies (Marfan syndrome, Lobstein-Vrolik disease, Ehlers-Danlos syndrome, Koolen-da-Vries syndrome, elastic pseudoxanthoma);
• diseases of the blood and skeletal system (iron deficiency anemia, osteitis deformans, Diamond-Blackfan anemia, acid phosphatase deficiency);
• that are not related to the state of the connective tissue (scleromalacia, congenital glaucoma).

In about 65% of patients who have this syndrome, it is accompanied by weakness of the ligamentous-articular system. Depending on the period in which it makes itself felt, 3 types of such lesions are distinguished, which can be called symptoms of blue sclera:

1. Severe degree of injury. With it, fractures are formed during intrauterine development of the fetus or soon after the birth of the child.
2. Fractures occurring in early childhood.
3. Fractures appearing at 2-3 years of age.

In diseases of the connective tissue, in particular, with Lobstein-Vrolik disease, the following symptoms appear:

1. The whites of both eyes acquire a blue-blue hue.
2. Increased bone fragility.
3. Hearing loss.

If there are blood diseases, in particular, iron deficiency anemia, which is indicated by blue sclera, the signs may be as follows:

• frequent colds;
• slowdown in physical and mental development;
• hyperactivity;
• disturbed tissue trophism;
• thinned tooth enamel.

It should be borne in mind that blue sclera in newborns is not always regarded as a sign of pathology. In many cases, they are the norm, due to insufficient pigmentation of the eye protein. As the baby develops, the pigment appears in the right amount, and the sclera acquires a normal color.

In older people, protein color changes are in many cases associated with age-related changes.

Blue sclera: diagnosis and treatment

Blue color can be intense, pronounced

Depending on the symptoms manifested, and are selected, thanks to which it is possible to identify what caused the change in the color of the sclera. It also depends on them, under the supervision of which doctor diagnostics and treatment will be carried out. By the way, the latter also depends on what caused this phenomenon.

There is no single blue sclera treatment regimen, because color change eyeballs is not a disease in itself.

You should not immediately be scared if the child has blue sclera, just as you should not panic if this phenomenon has overtaken an adult. It is worth contacting a pediatrician or therapist who will determine the algorithm of your further actions based on the collected history. Perhaps this phenomenon does not pose any danger to health and is not associated with the development of serious pathologies.

Blue (blue) sclera can be a symptom of a number of systemic diseases.

"Blue sclera" is most often a sign of Lobstein-Van der Heve syndrome, which belongs to the group of constitutional malformations of the connective tissue, due to numerous gene damage. The type of inheritance is autosomal dominant, with a high (about 70%) pevetrance. It occurs infrequently - 1 case per 40-60 thousand newborns.

The key symptoms of blue sclera syndrome are hearing loss, bilateral blue (sometimes blue) coloration of the sclera, and increased bone fragility. The most constant and most pronounced symptom is the blue-blue color of the sclera, observed in 100% of patients with this syndrome. Blue sclera is due to the fact that the pigment of the choroid is visible through the thinned and especially transparent sclera. Studies have recorded thinning of the sclera, a decrease in the number of collagen and elastic fibers, metachromatic coloration of the main substance, indicating an increase in the content of mucopolysaccharides, which indicates the immaturity of the fibrous tissue in the "blue sclera" syndrome, and the persistence of the embryonic sclera. There is an opinion that the blue-blue color of the sclera is not due to its thinning, but to an increase in transparency as a result of a change in the colloid-chemical qualities of the tissue. Based on this, the most correct one for designating this pathological condition the term is "transparent sclera".

Blue sclera in this syndrome are determined immediately after birth; they are more intense than in healthy newborns, and do not disappear at all by the 5-6th month, as is usually the case. The size of the eyes, in most cases, is not changed. In addition to blue sclera, other eye anomalies can be observed: anterior embryotoxon, iris hypoplasia, zonular or cortical cataract, glaucoma, color blindness, corneal opacities, etc.

The second sign of the "blue sclera" syndrome - bone fragility, which is combined with weakness of the ligamentous-articular apparatus, is observed in approximately 65% ​​of patients. This symptom can appear at different times, on the basis of which 3 types of the disease are distinguished.

• The first type is the most severe lesion, in which fractures appear in utero, during childbirth, or shortly after birth. These children die in utero or in early childhood.
• In the second type of blue sclera syndrome, fractures occur in early childhood. The prognosis for life in such situations is favorable, although due to numerous fractures that occur unexpectedly or with little effort, dislocations and subluxations, disfiguring deformations of the skeleton remain.
• The third type is characterized by the appearance of fractures at the age of 2-3 years; the number and danger of their occurrence decreases over time by puberty. The root causes of bone fragility are the extreme porosity of the bone, the deficiency of calcareous compounds, the embryonic nature of the bone and other manifestations of its hypoplasia.

The third sign of the "blue sclera" syndrome is a progressive hearing loss, which is a consequence of otosclerosis and underdevelopment of the labyrinth. Hearing loss develops in about half (45-50% of patients).

From time to time, the typical triad in blue sclera syndrome is combined with a variety of mesodermal tissue anomalies, of which congenital heart defects, cleft palate, syndactyly, and other anomalies are most common.

Treatment of the "blue sclera" syndrome is symptomatic.

Blue sclera can also be in patients suffering from Ehlers-Danlos syndrome, a disease with a dominant and autosomal recessive type of inheritance. Ehlers-Danlos syndrome begins at the age of 3 years and is characterized by increased skin elasticity, fragility and vulnerability of blood vessels, weakness of the articular-ligamentous apparatus. Often these patients have microcornea, keratoconus, lens subluxation, and retinal detachment. The weakness of the sclera sometimes leads to its rupture, including with minor injuries of the eyeball.

Blue sclera can also be a sign of Love's oculo-cerebro-renal syndrome, an autosomal recessive disease that affects only boys. Patients from birth have cataracts with microphthalmos, 75% of patients have increased intraocular pressure