Advertising on the portal

When is blue sclera normal in adults? Blue sclera, otosclerosis, pathological brittle bone syndrome

Lobstein-van der Heeve syndrome (blue syndrome) is a pathology that refers to constitutional abnormalities of connective tissue. It develops due to multiple gene disorders. The disease with a fairly high degree of penetrance is transmitted in an autosomal dominant manner. It occurs in one case in 40,000-60,000 newborns.

Main symptoms of Lobstein-Van der Heeve syndrome

Lobstein-van der Heeve syndrome is manifested by the following main symptoms:

  • the sclera of both eyes is blue-blue;
  • hearing loss;
  • increased bone fragility.

Discoloration of the sclera is a constant feature of this syndrome and occurs in 100% of patients. The reason for the appearance of the blue-blue color is that the pigment shines through the thinned, unusually transparent sclera. The following changes take place:

  • thinning of the sclera;
  • metachromatic coloring of the main substance, which indicates an increase in the amount of mucopolysaccharides, which is evidence of the immaturity of fibrous tissue;
  • reduction in the number of elastic and collagen fibers;
  • persistence of embryonic sclera.

Some scientists believe that the appearance of the blue-blue color of the sclera may be due not so much to its thinning as to an increase in transparency. This occurs due to changes in the colloidal chemical characteristics of the tissue. Experts suggest using a more correct term to refer to this pathology - “transparent sclera”.

Typically, in newborn babies, the sclera has a slightly blue color, which disappears by 6 months. With blue sclera syndrome, the blue-blue color is more intense than in healthy children. It does not disappear by six months of age. The following abnormalities in the development of the visual organs may also occur:

  • anterior embryotoxon;
  • hypoplasia;
  • cortical or zonular;
  • juvenile choroidal sclerosis;
  • anomalies in color perception, up to color blindness;
  • opacification resembling patchy degeneration.

In 65% of patients, the second symptom of the syndrome is observed - brittle bones. It is combined with weakness of the articular-ligamentous apparatus. Depending on when this symptom appears, three types of the disease are distinguished:

  • In the first type, the most severe damage is observed. Bone fractures can occur both in utero and during childbirth or some time after birth. These children have a poor prognosis: they can die either in utero or in the first years of life.
  • Bone fractures in the second type of disease occur in early childhood. In this case, the prognosis for life is more favorable. However, multiple fractures in patients occur not only with little force, but also spontaneously. They, like dislocations and subluxations, are the cause of disfiguring deformations of the skeleton.
  • A feature of the third type of syndrome is the appearance of fractures in a child aged 2-3 years. Their number and danger gradually decrease towards puberty. The bones become extremely porous. They contain an insufficient amount of lime compounds. There is also an embryonic nature of the bone tissue, its hypoplasia.

Due to otosclerosis, calcification and underdevelopment of the labyrinth, a third symptom develops - progressive hearing loss. Hearing loss is detected in 50% of patients. Signs of the syndrome may not be limited to visual abnormalities. Some patients have extraocular anomalies of mesodermal tissue such as syndactyly, cleft palate, or congenital heart defects. Treatment of Lobstein-Van der Heeve syndrome is symptomatic.

Moscow clinics

Below are the TOP 3 ophthalmological clinics in Moscow where eye diseases are treated.

Why do some people have blue whites of their eyes? Is this anomaly a disease? You will find answers to these and other questions in the article. The whites of the eyes are called this because they are normally white. are the result of thinning of the protein, which consists of collagen. Because of this, the vessels located under it are translucent, giving a blue tint to the sclera. What does it mean when the whites of the eyes are blue, we will find out below.

Reasons

Blue whites of the eyes are not an independent disease, but sometimes act as a symptom of the disease. What does it mean when the sclera of the eye acquires a blue-blue, gray-blue or blue tint? It is sometimes seen in newborns and is often caused by genetic disorders. This uniqueness can also be inherited. It is also called “transparent sclera”. But this does not always indicate that the child has serious illnesses.

This symptom of congenital pathology is detected immediately after the birth of the baby. If there are no severe pathologies, by six months of the child’s life this syndrome, as a rule, recedes.

If it is a sign of any illness, then it does not disappear by this age. In this case, the eye parameters usually remain unchanged. Blue white of the eyes is often accompanied by other visual abnormalities, including corneal opacities, glaucoma, iris hypoplasia, cataracts, anterior embryotoxon, color blindness, and so on.

The basic cause of this syndrome is the transillumination of the choroid through the thin sclera, which becomes transparent.

Transformations

Not many people know why blue sclera is found. This phenomenon is accompanied by the following transformations:

  • Reduced number of elastic and collagen fibers.
  • Directly by thinning of the sclera.
  • Metachromatic coloring of the ocular substance, indicating an increase in the number of mucopolysaccharides. This, in turn, indicates that the fibrous tissue is immature.

Symptoms

So what causes the whites of the eyes to be blue? This phenomenon occurs due to such ailments as:

  • eye diseases that have nothing to do with the condition of the connective tissue (congenital glaucoma, scleromalacia, myopia);
  • connective tissue pathologies (elastic pseudoxanthoma, Ehlers-Danlos syndrome, Marfan or Coolen-da-Vries sign, Lobstein-Vrolik disease);
  • ailments of the skeletal system and blood (iron deficiency anemia, lack of acid phosphatase, Diamond-Blackfan anemia, osteitis deformans).

In approximately 65% ​​of people who have this syndrome, the ligamentous-articular system is very weak. Depending on the moment at which it makes itself felt, there are three types of such damage, which can be called signs of blue sclera:

  1. Severe stage of damage. Fractures with it appear soon after the birth of the baby or during intrauterine development of the fetus.
  2. Fractures that appear at an early age.
  3. Fractures that occur at 2-3 years of age.

For connective tissue diseases (mainly Lobstein-Vrolik disease), the following signs are identified:


If a person suffers from blood diseases, for example, iron deficiency anemia, the symptoms may be as follows:

  • hyperactivity;
  • thin tooth enamel;
  • frequent colds;
  • slowdown in mental and physical development;
  • disruption of tissue trophism.

It must be taken into account that blue whites of the eyes in a newborn child are not always regarded as a symptom of an illness. Very often they are the norm, which is explained by incomplete pigmentation. As the child develops, the sclera acquires the appropriate color, since the pigment appears in the required quantity.

In older people, protein color transformation is often associated with age-related changes. Sometimes it is accompanied by other problems with the mesodermal tissue. Very often, a person who has been ill since birth has syndactyly, heart disease and other pathologies.

Myopia

Let's look at myopia separately. According to ICD-10 (international classification of diseases), this disease has code H52.1. It includes several types of flow, developing slowly or rapidly. Leads to serious complications and can cause complete blindness.

Myopia is associated with elderly grandparents and older people, but in fact it is a disease of the young. According to statistics, approximately 60% of school graduates suffer from it.

Do you remember the code for myopia in ICD-10? With its help, it will be easier for you to study this disease. Myopia is corrected with the help of lenses and glasses; they are advised to be worn continuously or used from time to time (depending on the type of illness). But such correction does not cure myopia, it only helps to correct the patient’s condition. Possible complications of myopia are:

  • A sharp decrease in vision acuity.
  • Retinal detachment.
  • Dystrophic transformation of retinal vessels.
  • Corneal detachment.

Myopia often progresses slowly; its sudden development can be triggered by the following factors:

  • disorder of blood flow to the brain;
  • long-term stress on the visual organs;
  • spending a long time at a PC (due to harmful radiation).

Diagnostics

Depending on the symptoms shown, diagnostic technologies are selected, thanks to which it is possible to determine the cause of the transformation of the color of the sclera. It also depends on them which doctor will supervise the examination and treatment.

There is no need to be alarmed if your baby has blue sclera. Also, do not panic if an adult is overtaken by this phenomenon. Contact a therapist or pediatrician who will establish an algorithm for your actions based on the collected medical history. Perhaps this phenomenon is not associated with the development of severe pathologies and does not pose any danger to health.

healing

There is no single treatment regimen for blue sclera, since transformation of the color of the eyeballs is not a disease. As therapy, the doctor may recommend:

  • electrophoresis with calcium salts;
  • massage course;
  • therapeutic exercises;
  • painkillers that will help relieve pain in bones and joints;
  • correction of diet;
  • use of a course of chondroprotectors;
  • buy a hearing device (if the patient has hearing loss);
  • bisphosphonates, which prevent bone loss;
  • surgical correction (for otosclerosis, fractures, deformation of the bone structure);
  • the use of medications containing calcium and other multivitamins;
  • antibacterial drugs if the disease is accompanied by an inflammatory process in the joints;
  • Women in menopause are prescribed hormonal medications containing estrogen.

Among the anomalies of the sclera, one can distinguish color anomalies - congenital (blue sclera syndrome, melanosis, etc.) and acquired (drug-related, infectious), as well as anomalies in the shape and size of the sclera.

Blue sclera syndrome

The disease is characterized by a congenital change in the normal color of the sclera. It causes damage to the skeleton, eyes, teeth, ligamentous-articular apparatus, and internal organs. The form of the disease is determined by the general clinical picture: a combination of blue sclera with increased fragility of bones (Eddow syndrome), with deafness (Van der Hoeve syndrome), etc. The disease in most cases is inherited in an autosomal dominant manner, but it is possible and autosomal recessive mode of inheritance. The blue color of the sclera depends mainly on the possible thinning, increased transparency and translucency of the bluish choroid of the eye. Sometimes accompanying changes are noted, such as keratoconus, embryotoxon, iris hypoplasia, corneal dystrophy, layered cataract, hemorrhages in various parts of the eyeball and its auxiliary apparatus, glaucoma. All medical workers, including pediatricians, should remember that the blue color of the sclera is primarily a formidable pathological sign when it appears in children after 1 year of age. But there is a possibility of a natural blue tint to the sclera of a newborn, due to its tenderness and comparative thinness. At the age of 3 years, the healthy sclera of children should have a white or pinkish tint. In adults, it becomes yellowish over time.

Treatment is symptomatic and ineffective. Anabolic steroids, large doses of vitamin C, fluoride preparations, and magnesium oxide are used.

Melanosis of the sclera

With congenital genesis, the disease has a characteristic picture, including three symptoms: pigmentation of the sclera in the form of spots of grayish or slightly violet color against the background of the rest of its normal whitish color, a darker iris, as well as a dark gray color of the fundus. Pigmentation of the skin of the eyelids and conjunctivitis are possible. Congenital melanosis is accompanied by increased pigmentation and is most often unilateral in the first year of a child’s life and at puberty. Melanosis of the sclera must be differentiated from melanoblastoma of the ciliary body and the choroid itself. Impaired carbohydrate metabolism (galactosemia) leads to a congenital hereditary change in the color of the sclera (melanosis), when the sclera in a newborn appears yellowish and often at the same time a layered cataract is detected. Yellowish staining of the sclera in combination with exophthalmos, strabismus, retinal pigmentary degeneration and blindness is a sign of a congenital disorder of lipid metabolism (malignant histiocytosis, Niemann-Pick disease). Darkening of the sclera is accompanied by a pathology of protein metabolism - alkaptonuria.

Treatment is symptomatic and ineffective.

Acquired color abnormalities of the sclera

They can be caused by diseases such as infectious hepatitis (Botkin's disease), obstructive (obstructive) jaundice, cholecystitis, cholangitis, cholera, yellow fever, hemolytic jaundice, chlorosis, pernicious anemia (Addison-Birmer anemia) and sarcoidosis. If there are errors in the amount of carotene in food, the use of quinine and other factors, changes in the color of the sclera are possible. All these diseases are accompanied by toxicosis and icterus of the sclera. The yellowish color of the sclera is the earliest sign of pathology.

Treatment is general, etiological. Icterus and other shades of scleral color disappear during recovery.

Congenital changes in the shape and size of the sclera

Congenital changes in the shape and size of the sclera are predominantly a consequence of the inflammatory process in the antenatal period. It is also possible to increase intraocular pressure, resulting in staphylomas and buphthalmos.

Staphylomas are characterized by local, limited stretching of the sclera. There are intermediate, ciliary, anterior equatorial and true (posterior) staphylomas of the sclera. The anterior part of the staphyloma is a thinned sclera, and the inner part is the choroid, as a result of which the protrusion (ectasia) is often blue. Intermediate staphylomas gather towards the extreme part of the cornea and are the result of trauma (wound, surgery). Ciliary staphyloma is localized in the area of ​​the ciliary body, most often at the site of attachment of the lateral muscles. Equatorial staphylomas are located in the place where the vorticose veins emerge under the lateral rectus muscles of the eye. Posterior staphyloma corresponds to the cribriform plate, i.e., the site of entry (exit) of the optic nerve. Due to the lengthening of the eye axis, severe myopia occurs. However, both equatorial and posterior scleral staphylomas are detected late and only by an ophthalmologist.

Treatment for extensive staphylomas is only surgical.

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

Congenital anomalies of the sclera

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

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

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

Main features This syndrome is characterized by bilateral blue-blue coloration of the sclera, increased bone fragility and hearing loss. The most constant and most pronounced symptom is the blue coloration of the sclera, observed in 100% of patients with the syndrome. This coloring 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, metachromatic coloring of the main substance, indicating an increase in the content of mucopolysaccharides, which indicates the immaturity of 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 denoting 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, does not change. In addition to blue sclera, other eye anomalies may be observed: anterior embryotoxon, iris hypoplasia, zonular or cortical cataract, keratoconus, glaucoma, juvenile choroidal sclerosis, color blindness, corneal opacities of the type of spotted degeneration, etc.

Second symptom of the syndrome- fragility of bones, combined with weakness of the articular-ligamentous apparatus, is observed in approximately 65% ​​of patients. This symptom can appear at different times, 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 force, 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 towards puberty. The causes of bone fragility are extreme bone porosity, lack of calcareous compounds, the embryonic nature of bone tissue and other manifestations of its hypoplasia.

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

Sometimes the typical triad in this syndrome is combined with a variety of extraocular anomalies of 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 type of inheritance. It begins before the age of 3 years and is characterized by increased extensibility of the skin, fragility and vulnerability of its vessels, and weakness of the joint-ligamentous apparatus. These patients often experience blue sclera, microcornea, keratoconus, lens subluxation, and retinal detachment. Weakness of the sclera can lead to its rupture even with minor injuries to the eyeball.

Blue sclera may 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 stretches and its blue color appears.

Congenital melanosis of the sclera is characterized by focal or diffuse pigmentation due to hyperplasia of the pigment 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 often unilateral, only 10% of patients have both eyes affected [Katsnelson A.V., 1957].

With melanosis, there are spots on the sclera of a grayish-bluish, slate, faint violet 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 areas;
  2. large isolated islands;
  3. color changes like marbled 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 coloration of the fundus, and pigmentation of the optic nerve head. A pericorneal pigmented ring is often detected. Possible pigmentation of the conjunctiva or skin of the eyelids. Melanosis is usually detected at birth; pigmentation intensifies in the first years of life and during puberty. The diagnosis is made based on the characteristic clinical picture. Melanosis must be differentiated from melanoblastoma of the ciliary body and choroid.

Melanosis of the sclera and eye 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 medical supervision.

Melanosis of the sclera is also observed in alkaptonuria, a hereditary disease associated with impaired tyrosine metabolism. The suffering is caused by a deficiency of the enzyme homogetinase, which leads to the accumulation of homogentisic acid in the body. Deposited in tissues, it colors them dark. 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 symmetrical damage to 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 cannot be treated.

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

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

Dermoid cysts of the sclera are rare; dermoids 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” protrudes.

Invasion of the sclera into the cornea is a rare anomaly in which layers of the sclera penetrate the cornea in a crescent shape.

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.

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

Blue squirrel: what does it mean? With this phenomenon, the white of the eye acquires a blue, gray-blue or blue-blue tint. It often occurs in newborns, and is often caused by genetic 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.

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

If it is 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. Blue white of the eyes is often accompanied by other pathologies of the visual organs, including iris hypoplasia, anterior embryotoxon, corneal opacification, color blindness, etc.

The main reason for the appearance of blue protein syndrome is the transillumination of the choroid through the thinned sclera, which becomes transparent.

This phenomenon is accompanied by the following changes:

  • direct thinning of the sclera;
  • reduction in the number of collagen and elastic fibers;
  • metachromatic coloring of the ocular 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, symptoms may vary.

These may be the following ailments:

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

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

  1. Severe degree of damage. With it, fractures form during intrauterine development of the fetus or soon after the birth of the child.
  2. Fractures that occur during early childhood.
  3. Fractures appearing at 2-3 years.

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

  1. The whites of both eyes take on a blue-blue tint.
  2. Increased bone fragility.
  3. Hearing loss.

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

  • frequent colds;
  • slowdown in physical and mental development;
  • hyperactivity;
  • impaired 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, which is explained by 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, changes in protein color are often associated with age-related changes.

Blue sclera: diagnosis and treatment

Blue color can be intense and pronounced

Depending on the symptoms displayed, 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 the diagnosis and treatment will be carried out. By the way, the latter also depends on what causes this phenomenon.

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

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