What is called “glaucoma” today? Glaucoma (from the Greek - the color of sea water, azure) is a serious disease of the organ of vision, named after the greenish color that the dilated and motionless pupil acquires at the stage of the highest development of the disease process - an acute attack of glaucoma. This is also where the second name for this disease comes from – “green water” or “green cataract” (from the German “Grun Star”).
Congenital glaucoma is a genetic (sometimes acquired) pathology expressed in insufficient development of the angle of the eye chamber (anterior) in conjunction with the trabecular network system. This pathology leads to a sharp increase in intraocular pressure in the chamber of the eye.
This pathology is very rare and does not occur often in ophthalmology, about one case per ten thousand births. Despite the well-known figures, many experts argue that it is impossible to calculate statistics, since often the congenital form of glaucoma manifests itself in adulthood and these patients make up completely different statistics.
The disease is inherited according to an autosomal recessive mode of inheritance. However, it has been estimated that boys predominate among those affected (approximately 3:2 gender distribution).
There are also several age periods for the development of this pathology. The main danger of this pathology must be considered the fact that a child may become blind if glaucoma is not treated within 4-5 years.
Congenital glaucoma - causes.
As mentioned earlier, congenital glaucoma is a pathology of a genetic nature, where about 80% of clinical cases of congenital glaucoma are accompanied by a mutated genome. In this case, the CYP1B1 gene, located on the 2nd chromosome, was mutated.
This gene is responsible for the cytochrome P4501B1 protein, which has not yet been reliably studied. However, it is known that cytochromes of the P450 group are involved in energy metabolism within the cell.
There is a hypothesis that this protein is also responsible for the synthesis and destruction of trabecular molecules, the disruption of which leads to irreversible consequences of the trabecular meshwork and the manifestation of glaucoma.
Today, geneticists know about a hundred different mutations of this gene, but they have not been able to identify their connection with the manifestation of glaucoma in a child. What can be said about other mutations, the information has not yet been reliably studied.
Presumably, the MYOC gene is located on chromosome 1, the defect of which also manifests itself in the form of congenital glaucoma. The MYOC gene encodes the protein myocellin, which is significantly involved in the formation of the trabecular meshwork of the eye.
It was previously known that this particular gene was the cause of open-angle glaucoma. It has now become known that the combined violation of these two genes simultaneously causes a congenital type of glaucoma. Despite this conclusion, certain geneticists believe that the mutation of the MYOC gene does not affect the manifestations of glaucoma and lead it to a simple coincidence.
The basis for the manifestation of congenital glaucoma is still considered to be the cumulative damage to these genes.
Causes and mechanisms of glaucoma development
The pathogenesis of congenital glaucoma is varied, but the basis for increased IOP is underdevelopment or improper development of the drainage system of the eye. The most common causes of blockage of the trabecular zone and Schlemm's canal are unresolved embryonic mesodermal tissue, poor differentiation of angular structures, anterior attachment of the iris root, and a combination of various anomalies. The severity of the process and the pace of its development depend on the degree of defect in the outflow tract of intraocular fluid: the more pronounced it is, the earlier the disease clinically manifests itself.
Causes of congenital glaucoma
Intrauterine glaucoma is the result of exposure of the fetal eye to various pathological factors, which can lead to abnormalities of the anterior part of the eye. An increase in IOP occurs when the outflow of IOP is disrupted as a result of the fact that non-resorbed embryonic mesodermal tissue closes the iridocorneal angle of the anterior chamber.
Somewhat less commonly, the cause of aqueous humor obstruction (retraction) is intrascleral changes or anterior attachment of the iris.
The disease is based on underdevelopment or abnormal development of the drainage system of the eyes.
Heredity plays a significant role in the development of pathology. Predisposition to this type of glaucoma is transmitted mainly in an autosomal recessive manner. Factors that can lead to the development of congenital glaucoma also include:
- infectious diseases suffered by the mother during pregnancy;
- endocrine system disorders;
- hypovitaminosis;
- exposure to ionizing radiation.
Classification of congenital glauca
Congenital glaucoma includes several varieties: congenital glaucoma, or hydrophthalmos (signs of the disease appear in the first year of life); infantile, or delayed, congenital glaucoma (aged 3-10 years); juvenile glaucoma (11-35 years); glaucoma combined with other developmental defects.
Such a significant difference in the age of development of congenital glaucoma is directly related to the degree of underdevelopment of the trabecular network of the eye. The more pronounced the disturbances in these structures, the earlier the accumulation of aqueous humor begins with an increase in intraocular pressure.
If the underdevelopment of the angle of the anterior chamber of the eye does not reach significant values, then in the first years of the child’s life the outflow occurs quite normally, and disorders develop much later. Attempts to associate certain clinical forms of congenital glaucoma with specific types of CYP1B1 gene mutations have not been successful to date, and the mechanisms of development of one or another type of disease are still unknown.
There are congenital glaucoma. juvenile glaucoma (juvenile glaucoma or glaucoma of young age), primary adult glaucoma and secondary glaucoma.
Congenital glaucoma can be genetically determined (predetermined) or caused by diseases and injuries of the fetus during embryonic development or during childbirth. This type of glaucoma appears in the first weeks and months of life, and sometimes several years after birth. This is a fairly rare disease (1 case per 10-20 thousand newborns).
This disease has several varieties. Let's list them:
- hydrophthalmos (manifests in the 1st year of a child’s life);
- delayed (infantile) glaucoma (noted between the ages of 3 and 10 years);
- juvenile glaucoma (manifests after 11 years).
A special form of pathology is combined glaucoma, which is accompanied by developmental anomalies of other organs. Experts also use a classification of the disease by degree (there are three degrees of pathology).
Another way to classify congenital glaucoma is by the characteristics of the disease:
- typical - the clinical picture becomes clear when the child reaches the age of 3-4 months;
- benign - the clinical picture becomes clear by the second year of life, the eye increases in size slightly;
- malignant - pronounced signs of glaucoma are recorded at the birth of the baby, or in the first months of his life, often the process is bilateral, the eyeball is greatly enlarged, the cornea is cloudy;
- abortive - intraocular pressure returns to normal, the disease does not progress.
Making an appointment with a pediatric ophthalmologist (ophthalmologist)
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Symptoms of glaucoma. Signs of glaucoma of the eye
Open-angle glaucoma is the most common form of this disease, in which the angle of the anterior chamber is open, but the outflow of intraocular fluid is hampered due to disturbances in the vascular and drainage systems of the eye.
As a rule, the disease is more severe if it appears at a very early age. Initial symptoms of hydrophthalmos:
- cornea enlargement;
- corneal edema;
- cracks of Descemet's membrane.
As the disease progresses, the cornea stretches, and the sclera becomes thinner, acquiring a bluish tint (the choroid begins to show through it). The limbus (the border of the sclera and cornea) expands, and the anterior chamber of the eye becomes deeper.
Dystrophy of the iris occurs, the pupil reacts worse to light. The size of the lens does not change, but it flattens and may become cloudy over time (cataract, read about this disease http://www.
okomed/cataracta. html).
A significant increase in the size of the eyeball may be accompanied by rupture of the ciliary ligaments, subluxation or even dislocation of the lens. As the disease progresses, the optic nerve fibers gradually die. The retina of the eye is stretched, which can lead to dystrophy and detachment.
Diagnosis of congenital glaucoma
Early recognition of congenital glaucoma occurs only if a thorough examination of the eyes of newborns is carried out. Attention should be paid to the size of the eye and cornea. If, during a simple examination by a specialist, clouding of the cornea, an increase in its size, dilation of the pupils and deepening of the anterior chamber were noticed, then this should immediately suggest the possibility of pathology.
In such cases, it is necessary to consult an ophthalmologist and be sure to undergo an IOP test. Intraocular pressure in children under 2 years of age and in newborns should not be measured by palpation, but exclusively with the help of a tonometer in conditions of physiological sleep, which can be enhanced with the help of relatively weak hypnotics and tranquilizers (triosin, luminal), and in some cases - under general anesthesia.
The more accurately and earlier the diagnosis is made, the less traumatic and more effective the prescribed treatment will be, in particular, antiglaucomatous operations. This is what will give children a greater chance of preserving their vision.
Treatment of congenital glaucoma
Drug treatment is ineffective and, as a rule, serves as an addition to surgery. It includes the use of miotics, prostaglandin analogues, beta blockers, carbonic anhydrase inhibitors. General strengthening and desensitizing therapy is also indicated. Surgical treatment is based on two principles: timeliness and pathogenetic orientation. The operation should be performed as early as possible, in fact immediately after the diagnosis is made. When choosing the type of operation, they proceed from the results of gonioscopy. Since all congenital glaucomas are angle-closure glaucoma, the main principle is to improve the outflow of intraocular fluid. If there is embryonic mesodermal tissue in the angle of the anterior chamber, a goniotomy is performed. The essence of the operation is the destruction of embryonic tissue using a special instrument. Goniotomy is recommended to be performed in the initial stage of the disease with normal or slightly elevated IOP. In the advanced stage, goniotomy is combined with goniopuncture, which allows you to create an additional passage for subconjunctival filtration of fluid. In some cases, mesodermal tissue is removed by internal and external trabeculotomy. At an advanced stage, they resort to fistulizing type operations - sinusotrabeculectomy. In the terminal stage of the disease, operations are performed aimed at reducing the production of intraocular fluid - transscleral diathermo-, cryo- or photocoagulation of the ciliary body.
For foreign patients, the cost of ophthalmological treatment in Germany is strictly regulated according to the price list for medical services (GOÄ). Doctors in Germany cannot demand self-determined fees for medical services. By law they are required to adhere to the GOÄ price.
Eye diseases are diseases of the tear glands, the skin around the eyes (including the eyelid), the lens, the optic nerve, the eye muscles and the eye socket (orbit). An estimated 15-20 million people in Germany suffer from eye diseases.
The most common pathology is ametropia (farsightedness or nearsightedness), caused by abnormal refraction of light in the eye through the cornea or lens. 63.5% of the German population aged 16 years and over wear glasses.
The most common diseases besides ametropia are age-related retinal diseases, conjunctivitis, glaucoma and cataracts. In addition, other diseases of the body affect vision (diabetes, multiple sclerosis, Parkinson's disease, Graves' disease).
Myopia, farsightedness and presbyopia
There are myopia (nearsightedness) and hypermetropia (farsightedness), which are caused by an incorrect ratio of the length of the eye and the refractive power of the lens. As a result, light rays entering the eye are focused not on the retina, but before or after it. First of all, farsightedness of the eye is a natural sign of aging.
If the refractive power of the cornea changes (astigmatism), then we speak of astigmatism, in which light rays are refracted in different directions. This creates a projection on the retina that does not look like a normal point, but looks like a rod.
Laser correction of ametropia
In addition to correcting ametropia with glasses and contact lenses, laser surgery has been used to treat the eyes for almost 20 years. The laser correction procedure has evolved over time. Today, both laser and surgical methods are safe and gentle for the patient. Currently, the following laser procedures predominate for the correction of ametropia:
- LASIK
- Femto-LASIK
- ReLEx® smile
Implantable contact lenses for the correction of farsightedness, myopia and astigmatism
Not every patient can undergo surgical vision correction. It depends on the severity of ametropia. This is where implantable contact lenses come to the rescue, offering a good alternative to vision without glasses. There are two types of intraocular lenses:
- Anterior chamber lenses
- Posterior chamber lenses
Which type of lenses is the most optimal option in each individual case is determined during a detailed preliminary examination by an ophthalmologist.
Age-related retinal diseases (retinal detachment)
Treatment of congenital glaucoma is only surgical; it is possible to use modern laser technologies. Conservative therapy using traditional remedies (pilocarpine drops, clonidine, epinephrine, dorzolamide) is auxiliary and can be used for some time while waiting for surgery.
Surgical intervention is reduced to the formation of a path for the outflow of aqueous humor, which reduces intraocular pressure and eliminates congenital glaucoma. The method and scheme of the operation is chosen in each specific case strictly individually.
Depending on the clinical picture and structural features of the eyeball, goniotomy and sinustrabeculectomy can be performed. drainage operations, laser cyclophotocoagulation or cyclocryocoagulation.
The prognosis of congenital glaucoma with timely diagnosis and surgery is most often favorable, but if treatment is carried out late, visual impairment of varying severity is possible. After eliminating glaucoma, at least three months of follow-up with an ophthalmologist is necessary.
In case of congenital glaucoma in a child, when collecting an anamnesis from the mother, it is necessary to find out how restless the child is, whether he sleeps well, takes the breast, and often regurgitates food. It is necessary to find out the impact of teratogenic factors (viral diseases, injuries, ionizing radiation, hyper- and hypovitaminosis, congenital hereditary factors) on the mother’s body during pregnancy.
The child's visual acuity is determined in accordance with his age. An examination is carried out using the method of lateral illumination, transmitted light, and intraocular pressure is determined by palpation.
You need to know that with a careful examination of the eye condition in newborns, even without special ophthalmological devices, it is possible to accurately diagnose in 90% of cases. Using a millimeter ruler applied in the desired direction to the edges of the orbit, the size of the cornea is measured (9 mm in newborns, 10 mm in children one year old and 11 mm in children over 3 years old).
a) photophobia, blepharospasm;
b) restless behavior of the child;
c) slight clouding (dullness, swelling of the cornea);
d) deep anterior chamber (over 2 mm);
d) dilated pupil. Over 2 mm with a slow reaction to light.
The main symptom of congenital glaucoma is a combination of one of the above symptoms with increased intraocular pressure.
The diagnosis is made based on the origin, form, dynamics of the process, stage of the process, degree of compensation.
a) expansion and tortuosity of the anterior ciliary vessels in the sclera (“jellyfish head”, “cobra head”, emissary symptom);
b) stretching of the entire anterior segment of the eye;
c) severe swelling and clouding of the cornea;
d) trembling of the iris (iridodonesis);
e) the appearance of axial myopia.
Differential diagnosis of congenital glaucoma is carried out from megalocornea - a large cornea (there are no other symptoms of the disease) and parenchymal keratitis. With the latter, there are characteristic changes in the cornea in the absence of other signs of the disease.
1. In preventing blindness from congenital glaucoma, the main role belongs to early detection and surgical treatment of the disease in children already in the first year of life. Therefore, any pediatrician should pay attention to the early signs of congenital glaucoma.
2. When diagnosing congenital glaucoma
first medical aid is provided in the form of immediate prescription of conservative therapy (cholinomimetics, sympathomimetics, beta-blockers and prostaglandins.)
3. During the first month after diagnosis, surgical treatment is carried out. In the initial stages, goniotomy or goniopuncture is performed, and in later stages, combined operations are used
A disease such as glaucoma is considered to be a large group of eye diseases, which are characterized by a periodic or constant increase in intraocular pressure (IOP), which is characterized by atrophy of the optic nerve, a gradual decrease in vision and the development of visual field defects.
It is customary to distinguish between two main types of glaucoma: open-angle and closed-angle, as well as primary, secondary and congenital glaucoma. The congenital form of this pathological condition is hereditary (approximately 15% of cases), as well as intrauterine (85% of cases).
In the presence of secondary glaucoma, an increase in IOP is a consequence of damage to the eye, another eye disease, or the entire body.
This article will focus on congenital glaucoma in children.
Treatment of congenital glaucoma should be determined depending on the severity of the disease. In the presence of moderate glaucoma, therapy can be started by prescribing eye drops to lower intraocular pressure.
But this type of treatment alone is ineffective and ineffective.
The most effective method for reducing IOP is surgical intervention. Only surgical methods can eliminate obstacles to the outflow of intraocular fluid, which are caused by structural defects of the drainage zone.
Drug treatment of congenital glaucoma is considered insufficiently effective, therefore such treatment is used only as an addition to surgical treatment. Drug therapy includes the use of beta blockers, miotics, prostaglandins, and carbonic anhydrase inhibitors. Desensitizing and restorative therapy is also used.
The foundation of modern surgical treatment of congenital glaucoma is based on the principles of timeliness and pathogenetic focus. As a rule, surgery is prescribed immediately after diagnosis, the purpose of which is to ensure normal outflow of intraocular fluid.
Depending on the pathogenesis, this may be: goniotomy, during which the adhesions are dissected, goniotomy in combination with goniopuncture (creation of additional channels for the outflow of fluid), trabeculotomy or sinusotrabeculotomy; to reduce the production of intraocular fluid, transscleral cryo-, thermo- and photocoagulation of the ciliary can be performed bodies.
– often a hereditary disease, accompanied by a gradual increase in intraocular pressure and associated visual disturbances. The main symptoms of this pathology include enlargement of the eyes (in infants), pain, which leads to restlessness and tearfulness of the child, photophobia, myopia or astigmatism. Diagnosis of congenital glaucoma is made on the basis of an ophthalmological examination, a study of the patient’s hereditary history and the course of pregnancy, and genetic studies. Treatment is only surgical, and it should be performed as early as possible before the development of irreversible secondary disorders in the organ of vision.
ICD-10
Q15.0
General information
Diagnosis of congenital glaucoma
Congenital glaucoma is identified by an ophthalmologist based on examination data and ophthalmological studies (tonometry, gonioscopy, keratometry, biomicroscopy, ophthalmoscopy, ultrasound biometry). Also, an important role in the diagnosis of this condition is played by genetic studies, the study of hereditary history and the course of pregnancy. Upon examination, enlarged (in the early form) or normal size of the eyes are detected; swelling of the tissues surrounding the eyeball may also be observed. The horizontal diameter of the cornea is increased, micro-tears and clouding are possible on it, the sclera is thinned and has a bluish tint, the iris is also affected in congenital glaucoma - atrophic processes occur in it, the pupil reacts sluggishly to light stimuli. The anterior chamber of the eye is deepened (1.5-2 times more than the age norm).
No pathological changes occur in the fundus for a long time, since due to the increase in the size of the eyeball, intraocular pressure initially does not reach significant values. But then excavation of the optic disc develops quite quickly, however, as the pressure decreases, the severity of this phenomenon also decreases. Due to the increase in eye size, congenital glaucoma causes thinning of the retina, which, if left untreated, can lead to its rupture and rhegmatogenous detachment. Often, against the background of such changes, myopia is detected. Tonometry shows a slight increase in intraocular pressure, but this indicator should be compared with the anteroposterior size of the eye, since scleral stretching smoothes out IOP values.
A study of the hereditary history can reveal similar changes in the patient’s relatives, and it is often possible to determine an autosomal recessive type of inheritance - this indicates in favor of primary congenital glaucoma. The presence of maternal infectious diseases, injuries, and exposure to teratogenic factors during pregnancy indicates the possibility of developing a secondary form of the disease. Genetic diagnosis is carried out through direct sequencing of the CYP1B1 gene sequence, which makes it possible to identify its mutations. Thus, only a geneticist can clearly prove the presence of primary congenital glaucoma. In addition, if one of the parents or their relatives has this condition, a search for the pathological form of the gene can be performed before conception or prenatal diagnosis through amniocentesis or other techniques.
Treatment and prognosis of congenital glaucoma
Treatment of congenital glaucoma is only surgical; it is possible to use modern laser technologies. Conservative therapy using traditional remedies (pilocarpine drops, clonidine, epinephrine, dorzolamide) is auxiliary and can be used for some time while waiting for surgery. Surgical intervention is reduced to the formation of a path for the outflow of aqueous humor, which reduces intraocular pressure and eliminates congenital glaucoma. The method and scheme of the operation is chosen in each specific case strictly individually. Depending on the clinical picture and structural features of the eyeball, goniotomy, sinustrabeculectomy, drainage operations, laser cyclophotocoagulation or cyclocryocoagulation can be performed.
The prognosis of congenital glaucoma with timely diagnosis and surgery is most often favorable, but if treatment is carried out late, visual impairment of varying severity is possible. After eliminating glaucoma, at least three months of follow-up with an ophthalmologist is necessary.
13-12-2012, 18:28
Description
Congenital glaucoma is classified into simple (primary), combined and secondary. There are infantile (up to 3 years) and juvenile congenital glaucoma. Increased IOP in patients with PIH and SVH is associated with abnormalities in the development of the drainage area of the eye.Development of the drainage area of the eye
At the 6th week of pregnancy, an undifferentiated cell mass appears along the edge of the optic cup, apparently originating from the neural crest. The undifferentiated cells then spread between the superficial ectoderm and the lens, forming three layers:
- corneal endothelium;
- corneal stroma;
- iris and pupillary membrane.
Iridopupillary plate is formed from mesenchymal tissue in the 2nd month of fetal development (fetal length 18 mm). It is vascularized first from the hyaloid system and then from the peripheral annular vessel. Hyaloid vessels atrophy starting from the 7th month (200 mm), which leads to atrophy of the pupillary membrane. The corneal endothelium and stroma (20 mm) also differentiate from mesenchymal tissue. The anterior chamber appears at the end of the 4th month (110 mm) in the form of a narrow gap. From the inside it is covered with a continuous layer of endothelium, thus forming a closed cavity.
Mechanisms of development of the anterior chamber and its angle are not entirely clear. An important role is played by the rapid and uneven growth of the mesenchymal layers limiting it. This process causes the appearance of the anterior chamber, its deepening, progressive posterior displacement of the APC, stretching and rarefaction of tissue structures. Atrophy and resorption of mesenchymal tissue in the area of the pupil and UPC also appear to have a certain effect.
Delay in the development and differentiation of the UPC and drainage system of the eye is manifested in the anterior attachment of the iris root, excessive development of the pectineal ligament, the posterior position of Schlemm's canal, partial preservation of mesodermal tissue and endothelial membrane in the angle bay and on the inner surface of the trabeculae.
The first signs of scleral sinus in the form of a plexus of venous tubules appear at the end of the 3rd month (60 mm). The tubules gradually merge, forming a wide circular vessel by the 6th month (150 mm). The scleral spur begins to form at the beginning of the 5th month (110 mm) between the sinus and the ciliary body. By this time, fibers of the meridional ciliary muscle are formed in the ciliary body, which reach anteriorly to the rudiment of the uveal trabecula.
At the 150 mm stage, the mesenchymal tissue in the UPC differentiates into corneoscleral and uveal trabeculae. Uveal trabecula passes to the ciliary body and the root of the iris. The trabeculae are covered from the inside by a continuous layer of endothelium (Barkan's membrane).
Subsequently, the anterior chamber deepens, and the APC extends posteriorly. The iris root and ciliary body move in the same direction. Thus, by the 6th month, the apex of the UPC is at the level of the beginning of the trabecula, by 7 months - at the level of the middle of the trabecula, and by the time of birth it reaches the scleral spur. At the same time, atrophy and reorganization of the mesenchymal tissue in the UPC and the Barkan endothelial membrane occur.
Delay in development and differentiation of the criminal complex occurs quite often. It manifests itself in excessive development of the pectineal ligament and processes of the iris, shallow depth of the anterior chamber, anterior attachment of the iris, posterior position of the scleral sinus, and partial preservation of mesenchymal tissue in the recess of the UPC.
Goniodysgenesis
CPC in children 1 year of life has some features. The root of the iris looks flatter and thinner than in adults, the uveal trabecula has the appearance of a smooth homogeneous membrane extending from the periphery of the iris to the Schwalbe ring; a grayish veil is sometimes visible in the niche of the UPC and the trabecula zone.
The delay in the development and differentiation of the UPC in a 7-8 month old fetus is called goniodysgenesis. The most pronounced sign of dysgenesis of the UPC is anterior attachment of the iris periphery(Fig. 37).
Rice. 37. Goniodysgenesis, anterior attachment of the iris in the UPC.
In this case, the apex of the angle is missing and it seems that the root of the iris begins at the level of the scleral spur of the trabecula or even the ring of Schwalbe. In other cases, the UPC niche is filled with strands or layers of uveal tissue. They extend from the root of the iris, go around the apex of the angle and pass onto the scleral spur and trabecula. From this tissue the uveal trabecula, pectineal ligament and processes of the iris are formed (Fig. 38).
Rice. 38. Uveal tissue and iris processes in the UPC in a patient with congenital glaucoma (Rieger syndrome).
In young children, the remains of embryonic uveal tissue are especially clearly visible. They can be covered from the inside with a continuous endothelial membrane (Barkan's membrane), which blocks the access of aqueous humor to the trabecular apparatus. T. Jerndal et al. (1978) found the same membrane in many eyes with glaucoma in adults. Excess uveal tissue in the UPC is often combined with hypoplasia of the iris root stroma. Oval areas of thinned stroma are sometimes bordered by thin vessels. Abnormal circular and radial vessels can be found in the recess of the SPC and the root of the iris.
E. G. Sidorov and M. G. Mirzoyants (1988) distinguish three degrees of goniodysgenesis. With goniodysgenesis of the first degree, the UPC is gonioscopically almost no different from normal, only a delicate grayish veil is noted in the niche of the angle and the trabecular zone. Grade II dysgenesis of the UPC is especially common in VH. With gonioscopy in the plane of the iris, one can see that its root is attached at the level of the posterior third of the abnormal trabecular zone. In eyes with a light iris, its root has a jagged, scalloped appearance, and in the UPC, semi-translucent grayish tissue is visible. In dark-colored eyes, a palisade of the pectineal ligament is visible, often merging into a continuous layer, which can extend to the anterior third of the trabecula. In grade III goniodysgenesis, the iris is attached to the middle or anterior third of the trabecula.
Simple congenital glaucoma
Heredity. Simple congenital glaucoma (SCG) is a rare inherited disease found in an incidence of 1:12,500 births. PIH often manifests itself in the 1st year of life and in most cases (80%) is bilateral. Boys get sick more often than girls. Hereditary transmission is carried out either according to the autosomal recessive or multifactorial type Morin J., Merin S., 1972]. However, according to T. Jerndal (1970), it is not glaucoma that is inherited, but dysgenesis of the CPC, transmitted according to the dominant type. Depending on the expressiveness of dysgenesis, infantile, juvenile, primary open-angle glaucoma occurs, or the eyes remain clinically healthy throughout life.
The question of the common genetic basis of PIH and primary glaucoma in adults requires additional study. According to T.I. Ershevsky and R.P. Shikunova (1978), such a general basis exists. However, J. Morin and S. Merin (1972) found that in families of patients with PVG, the incidence of primary glaucoma is the same as in the normal population. They also indicate the predominance of a negative corticosteroid test in children with congenital glaucoma, in contrast to patients with primary OAG. Apparently, primary OAG has a common genetic basis for PIG only in cases where dysgenesis of the UPC plays a significant role in its pathogenesis. S. Phelps and S. Podos (1974) showed that HLA antigens are not informative as genetic markers for congenital glaucoma. If a family has a child with PIH, then the risk of having a second child with the same disease is 1:20.
Pathogenesis. The pathogenesis of PIH is associated with dysgenesis of the UPC. Based on the results of gonioscopic and histological studies, O. Barkan (1949, 1955) put forward a theory according to which in eyes with infantile glaucoma there is a pretrabecular membrane that blocks the filtering zone of the UPC. Later L. Allen et al. (1955) came to the conclusion that congenital glaucoma is a consequence of incorrect and incomplete breakdown of tissue in the APC during embryogenesis. E. Maumene (1958) put forward a new concept according to which infantile glaucoma is a consequence of the attachment of the longitudinal fibers of the ciliary muscle not to the scleral spur, but further anteriorly to the corneoscleral trabecula.
A. Towara and H. Inomata (1987) described layer of subcanalicular dense tissue in patients with congenital glaucoma. This layer consists of cells with short cytoplasmic processes and extracellular substance. In patients with infantile glaucoma it was thicker than in eyes with juvenile glaucoma. The authors believe that the layer of subcanalicular tissue they described is a consequence of incomplete development of the trabecular meshwork and can cause glaucoma at any age.
The concept proposed by O. Barkan is shared by I. Worst (1966), as well as T. Jerndal et al. (1978), who found a denser uveal trabecula and a weakly fenestrated endothelial layer on the inner surface of the trabecular web in eyes with PIH. Based on the results of pathomorphological studies, E. G. Sidorov and M. G. Mirzoyants (1987) indicate a possible role in the genesis of glaucoma improperly formed uveal trabecula and the entire trabecular apparatus, rudimentary state of the scleral spur and Schlemm's canal, excessively posterior position of the latter, weaving of the fibers of the ciliary muscle directly into the trabecula. They, like D. Anderson (1981), did not find Barkan’s membrane during pathohistological studies.
Thus, according to various authors, the most common causes of impaired outflow of aqueous humor from the eye during PIH are preservation of the Barkan endothelial membrane in the UPC, remnants of uveal embryonic tissue in the recess of the UPC and trabecular zone (including the pectineal ligament and processes of the iris), anterior attachment of the iris, defects in the formation of the trabecular apparatus and Schlemm's canal, anomalies in the topography of the ciliary muscle.
Clinic. The clinic of infantile glaucoma has specific features. The child develops photophobia and lacrimation caused by stretching and swelling of the cornea. He does not turn his head towards the light, but, on the contrary, turns away from it. In severe cases, blepharospasm occurs. A red eye symptom may appear. Characteristic changes are found in the cornea, anterior chamber, APC, iris and optic disc.
The horizontal diameter of the cornea in a healthy newborn is 10 mm, increasing to 11.5 mm by 1 year and to 12 mm by 2 years. In patients with infantile glaucoma, the diameter of the cornea already in the 1st year of life is increased to 12 mm or more, the thickness of the cornea is reduced and the radius of its curvature is increased. Corneal stretching is often accompanied by stromal and epithelial edema and tears in Descemet's membrane, which can be detected with a magnifying glass or hand-held slit lamp. In the later stages of the disease, scarring of the stroma occurs and persistent opacities occur in the cornea.
Characteristics of congenital glaucoma deepening of the anterior chamber, atrophy of the iris stroma, exposure of its radial vessels. However, it should be noted that even in healthy newborns, the stroma of the iris is poorly developed, especially in the peripheral zone.
The normal fundus of the eye in the neonatal period is pale due to incomplete development of the pigment epithelium. The optic disc is paler than in an adult, physiological excavation is absent or poorly developed. With congenital glaucoma, the excavation quickly increases in size and becomes deep. It should be noted that at first, excavation of the optic disc is reversible and decreases with a decrease in IOP. According to J. Morin et al. (1974), an increase in the E/D diameter ratio by 0.2 corresponds to an increase in corneal diameter by 0.5 mm. This allows you to roughly assess the condition of the optic disc without ophthalmoscopy.
When measured using ultrasound, the axis length of a newborn's eye varies from 17 to 20 mm, reaching 22 mm by the end of the 1st year of life. With glaucoma, the size of the eyeball increases, sometimes quite significantly, but can also be within normal limits. It should be noted that changes in corneal diameter are more important in diagnosing PIH and assessing the stage of the disease than an increase in the length of the ocular axis.
Data on the value of normal IOP in newborns and children of the 1st year of life are contradictory. This is due to the difficulty of measuring blood pressure in children, as well as the fact that it changes under the influence of drugs. E. G. Sidorov and M. G. Mirzoyants (1987) found that when using ketalar anesthesia, the upper limit of normal IOP in children is the same as in adults. However, during fluorotane anesthesia, IOP decreases by 2-3 mm Hg. Children with congenital glaucoma often experience significant fluctuations in ophthalmotonus during the day from normal values to 40 mmHg. and higher.
In a late stage of the disease the eye and especially the cornea are significantly enlarged, the corneal limb is stretched, poorly contoured, the cornea is cloudy, often overgrown with blood vessels. An eye in this state is called “bull eye” (buphtalm). Overstretching and rupture of the ligaments of Zinn leads to iridodonesis and subluxation of the lens. In the blind eye, corneal ulcers and hyphemas often occur; perforation of the ulcer or rupture of the thinned membranes of the eyeball can occur, resulting in phthisis of the eye.
Congenital infantile glaucoma must be differentiated from megalocornea, corneal lesions in children, traumatic ruptures of Descemet's membrane, and congenital dacryocystitis. Megalocornea- congenital hereditary anomaly of the cornea. Unlike glaucoma, with megalocornea the cornea is transparent, the corneal limbus is clearly defined and not stretched, the corneas of both eyes are the same in size, thickness and curvature. However, it should be borne in mind that in rare cases, a combination of two diseases is possible - megalocornea and congenital glaucoma.
Cloudiness of the cornea in young children can be due to cystinosis, mucopolysaccharidosis, congenital corneal dystrophy, and keratitis. However These diseases have no other symptoms, characteristic of congenital infantile glaucoma. The only common symptom of congenital dacryocystitis and PIH is lacrimation. However, in the first case there is no photophobia and changes in the cornea, and in the second there is no purulent content in the conjunctival cavity.
Clinical symptoms of juvenile PIH differs significantly from the manifestations of infantile glaucoma. The cornea and eyeball are of normal size, there is no photophobia, lacrimation and all symptoms associated with stretching and swelling of the cornea. At the same time, as with infantile glaucoma, the phenomenon of stretching of the sclerochoroidal canal of the optic nerve can be observed. In common with infantile glaucoma is the condition of the UPC, characterized by its dysgenesis of varying degrees of severity.
Drug treatment of PIH ineffective. Preference is given to surgical treatment, which should not be postponed [Broshevsky T. I., Tokareva B. A., 1971; Kovalevsky E.I., Tatarinov S.A., 1982]. The choice of surgery depends on the stage of the disease, the structural features of the apical cavity and the experience of the surgeon. In the early stage of the disease, goniotomy is often performed [Broshevsky T. I., Tokareva B. A., 1971; Krasnov M. M., 1980] or trabeculotomy [Sidorov E. G., Mirzoyants M. G., 1987]. In the later stages of PIH, fistulizing operations and destructive interventions on the ciliary body are more effective [Kovalevsky E.I., Tatarinov S.A., 1982].
The prognosis for timely surgical treatment is satisfactory. Sustained normalization of IOP can be achieved in 85% of cases. Vision is preserved throughout life in 75% of patients in whom surgery was performed in the initial stage of the disease, and only in 15-20% of late-operated patients.
Combined congenital glaucoma
Combined congenital glaucoma (CCG) has many similarities with PVG. In most cases, it also develops as a result of dysgenesis of the UPC and has two forms: infantile (in children under 3 years old) and juvenile (over 3 years old). Especially often, congenital glaucoma is combined with aniridia, microcornea, persistent primary vitreous body, mesodermal dysgenesis, phakomatoses, Marfan and Marchesani syndromes, chromosomal disorders, as well as syndromes caused by intrauterine infection with the rubella virus.
Microcornea . Microcornea includes cases with a horizontal corneal diameter of less than 10 mm. The small size of the cornea is often combined with a small anterior chamber and a narrow APC. Glaucoma in eyes with microcornea most often occurs as an angle-closure type, but cases of congenital open-angle glaucoma have also been described.
Persistent hyperplastic primary vitreous. In a typical eye with microphthalmia, white masses of hyperplastic primary vitreous are visible behind the lens. Remains of the hyaloid arterial system are also preserved. The lens swells and becomes cloudy, causing pupillary block and angle-closure glaucoma. In other cases, glaucoma is secondary, developing after hemorrhages into the vitreous body. White masses behind the lens can cause an erroneous diagnosis of retinoblastoma.
Aniridia and glaucoma . According to M. Shaw et al. (1960), congenital aniridia occurs in approximately two cases per 100,000 births. It can be a single defect or combined with other congenital anomalies. Hereditary transmission in most cases is carried out according to an autosomal dominant type, but autosomal recessive transmission and the occurrence of an iris defect due to spontaneous mutations are also possible.
In typical cases, the iris is almost completely absent, with the exception of a small peripheral “stump.” However, in some patients the iris defect is less pronounced and it is preserved to one degree or another. Other eye lesions include vascularization of the corneal periphery, disruption of its epithelium, congenital opacities in the lens, choroidal coloboma, macular hypoplasia, partial ptosis, and nystagmus. In sporadic cases, aniridia is combined with Wilms tumor (mixed kidney tumor), which can metastasize into the orbit.
Glaucoma develops in 50-75% of patients with aniridia (usually at the age of 5-15 years) and proceeds according to the juvenile type. The pathophysiological mechanisms of glaucoma in aniridia are associated both with dysgenesis of the anterior chamber angle and drainage system of the eye, and especially with subsequent, secondary, changes in these structures. Secondary changes include vascularization "stump" of the iris, its progressive fusion with the trabecular wall of the UPC and its obliteration.
Treatment start with the prescription of antihypertensive drugs. If there is no sufficient effect, surgical treatment is recommended. The choice of operation depends on the specific case. Of the fistulizing operations, filtering iridocycloretraction is preferable. In some cases, a sufficient hypotensive effect is achieved using cyclocryocoagulation.
Mesodermal dysgenesis of the anterior eye. Manifestations of mesodermal dysgenesis of the anterior part of the eye are diverse both in clinical picture and in intensity. Only those that are often associated with secondary juvenile or juvenile glaucoma will be discussed below. Dysgenesis of the anterior part of the eye is usually divided into peripheral and central.
Peripheral mesodermal dysgenesis . This group includes posterior embryotoxon, Axenfeld's anomaly, and Rieger's syndrome. T. Axenfeld (1920) called the posterior embryotoxon the pronounced prominence and anterior displacement of the anterior boundary ring of Schwalbe. This anomaly is quite common and does not in itself cause any eye diseases. At the same time, posterior embryotoxon is often combined with deeper manifestations of mesodermal dysgenesis. Diagnosis of posterior embryotoxon is not difficult. With biomicroscopy, a white stripe is visible on the periphery of the cornea, and with gonioscopy, a Schwalbe ring protruding posteriorly. Axenfeld anomaly is currently considered a “mild” version of a more severe syndrome described by N. Rieger (1935).
Rieger syndrome - hereditary bilateral disease with an autosomal dominant type of transmission. The severity of the syndrome varies significantly among members of the same family. The most characteristic ocular sign of the disease is Axenfeld syndrome, i.e., the posterior embryotoxon and processes or strands of the iris extending from its periphery, and sometimes from the pupillary zone to the Schwalbe ring (see Fig. 38). At the same time, there are signs of hypoplasia of the iris stroma, combined with pupillary defects (dislocation of the pupil, disruption of its shape, eversion of the pigment leaf). In more severe cases, hypoplasia also affects the pigment layer, resulting in holes in the iris (Fig. 39).
Rice. 39. Hypoplasia of the iris, deformation and dislocation of the pupil in a patient with Rieger syndrome and congenital glaucoma.
Changes in the iris are usually stationary, but sometimes progress, probably due to insufficient vascular development and ischemia. Some patients experience changes in the size and shape of the cornea (megalo- or microcornea, vertical-oval cornea), lesions of the choroid, retina, cataracts, and strabismus.
Eye changes often combined with abnormalities of the teeth and facial skull. In patients with Rieger's syndrome, the number and size of teeth are often reduced, the spaces between them are increased, hypoplasm of the upper jaw, an expanded flat bridge of the nose, and a protruded lower lip are noted.
Changes in the anterior part of the eye in approximately half of patients lead to the development of glaucoma, which usually manifests itself in childhood or adolescence. The mechanism of increase in intraocular pressure is associated not only with the processes of the iris. Data have been obtained indicating that defects in the development of the trabecula and scleral sinus play a major role. The anterior attachment of the iris to the trabecular zone, which is common in Rieger syndrome, is also important.
Rieger syndrome should be differentiated primarily from mesodermal iris dystrophy. The clinical manifestations of these diseases are very similar. The following differences can be noted. Glaucoma caused by Rieger's syndrome is characterized by a positive family history, onset in childhood (often, but not always), involvement of both eyes, absence of corneal edema, dental and facial changes. In patients with mesodermal iris dystrophy, the onset of the disease is later, often in middle age, the family history is rarely positive, the lesion may be unilateral, and corneal edema may occur due to a defect in the corneal endothelium. It is much easier to differentiate Rieger's syndrome from iridoschisis, corectopia, aniridia and congenital iris hypoplasia due to noticeable differences in the clinical picture of these diseases.
Treatment of glaucoma associated with Rieger syndrome, consists of using medications that reduce the production of aqueous humor (timolol, clofelic) in mild cases and performing surgery in more severe cases.
Central mesodermal dysgenesis . This group of developmental defects includes posterior keratoconus, Peters corneal anomaly, as well as congenital cataracts and staphylomas of the cornea. It can be assumed that the developmental defects listed above represent the same anomaly, but of varying degrees of severity. It is characterized by damage to the posterior layers of the cornea in its central section.
With posterior keratoconus, there is an increase in the curvature of the posterior surface of the cornea in its central fissure. Peters anomaly characterized by central opacification of the cornea, as well as a defect in Descemet's membrane and endothelium in the area of opacification. In this case, the posterior layers of the cornea are fused with the central parts of the iris or lens. In the latter case, changes in the cornea are combined with cataracts. It is believed that Peters' anomaly is a hereditary disease with an autosomal recessive type of transmission. Peters' anomaly usually affects both eyes and is sometimes associated with microphthalmos, blue sclera, and Rieger's syndrome. Peters' anomaly is often complicated by glaucoma, which develops immediately after the birth of the child.
Congenital corneal cataracts in the most severe cases are combined with staphyloma. In this case, the cornea is thinned, vascularized and fused with the iris, and intraocular pressure is often increased.
Peters' anomaly is differentiated from PIH, corneal opacities caused by birth trauma, congenital corneal dystrophy, and mucopolysaccharidosis.
Only surgical treatment is possible glaucoma associated with central dysgenesis of the anterior part of the eye (trabeculectomy, filtering iridocycloretraction, cryocyclocoagulation). After normalization of IOP, penetrating keratoplasty is indicated.
Frank-Kamenetsky syndrome . This syndrome is characterized by a combination of hypoplasia of the iris stroma with congenital glaucoma. Boys get sick. The disease is transmitted in a recessive, sex-linked manner (Fig. 40).
Rice. 40. A characteristic picture of a two-color iris and hypoplasia of its stroma in a patient with Frank-Kamenetsky syndrome.
The most pronounced syndrome is two-color iris: the light pupillary zone is combined with a darker, brownish periphery. The dark color of the ciliary zone is due to hypoplasia of the iris stroma and translucency of the pigment layer. Some patients have pupillary anomalies and through holes in the iris.
Sclerocornea . Sclerocornea is a congenital lesion of the cornea into which vascularized scleral tissue grows. The cloudiness affects either the periphery or the entire cornea. Sclerocornea may be associated with other general and ocular congenital changes, including glaucoma. The reasons for the increase in pressure in the eye are either obliteration of the APC due to iridocorneal adhesions, or dysgenesis of the APC and the drainage system of the eye. Keratoplasty is recommended to restore vision; When sclerocornea is combined with glaucoma, the prognosis is poor. Only surgical treatment of glaucoma is possible.
Marfan syndrome (arachnodactyly) . Marfan syndrome is a hereditary systemic hypoplastic mesenchymal dystrophy. The disease is transmitted in an autosomal dominant manner with high penetrance. The most pronounced skeletal changes are: arachnodactyly, dolichocephaly, long, thin limbs, kyphoscoliosis, weakened ligaments and joints. Cardiovascular disorders are also characteristic, especially changes in the aorta.
Most common eye changes- an increase in the size of the eyeball, thinning of the membranes and the disk of the lens (ectopia lentis), which is observed in 60-80% of patients. The lens, often reduced in size and spherical in shape, is usually displaced upward. Some patients develop infantile or juvenile glaucoma. In such cases, histological examination reveals elements of dysgenesis of the UPC: anterior attachment of the meridional fibers of the ciliary muscle, weak development of the scleral spur, thickening of the trabecular meshwork, and sometimes incomplete development of the scleral sinus. Treatment of glaucoma in Marfan syndrome can be medical or surgical, depending on the individual case.
Homocystinuria . The external general manifestations of the disease are the same as with Marfan syndrome. In contrast to the latter, homocystinuria is transmitted in an autosomal recessive manner and is often accompanied by mental retardation. Impaired homocysteine metabolism is a consequence of an enzyme defect. Lens dislocation and glaucoma are observed more often than with Marfan syndrome. The disease can be complicated by retinal detachment.
Marchesani syndrome (spherophakia-brachymorphy). Marchesani syndrome is a hereditary systemic disease of the hyperplastic type, which can be transmitted in a dominant or recessive manner. Patients are brachycephalic, short in stature with short, wide limbs and fingers, well-developed subcutaneous tissue and muscles. Ocular changes include microspherophakia, lenticular myopia, and sometimes dislocation of the lens (usually downward). Glaucoma does not develop often; it can be either open- or closed-angle. In the first case, an increase in IOP is associated with dysgenesis of the UPC, in the second - with a block of the pupil by the spherical lens.
Oculocerebrorenal syndrome . The syndrome was described by C. Lowe, M. Terru and E. Maclochlan (1952). The main symptoms include systemic acidosis, increased organic aciduria, ketonuria, glucosuria, albuminuria, aminoaciduria, muscle, skeletal and neuropsychic disorders. Glaucoma develops in more than half of patients and proceeds according to the infantile type. Congenital cataracts and corneal opacities are also characteristic. Treatment of ocular manifestations of the disease consists of cataract extraction and surgical treatment of glaucoma (trabeculotomy or trabeculectomy).
Other syndromes. Congenital glaucoma in rare cases can be combined with other disorders, including Down syndrome, Robin syndrome, Turner Stickler syndrome, retinocerebral angiomatosis, oculodermomelanocytosis, chromosomal syndromes (trisomy 13-15, 17-18). The clinical course of glaucoma in such cases is similar to primary infantile glaucoma.
Encephalotrigeminal angiomatosis (Sturge-Weber syndrome). Sturge-Weber syndrome is classified as phakomatoses - hereditary lesions of various organs, characterized by the development of tumor-like formations, tissue hyperplasia arising from ordinary tissue cells (hamartomas), or the development of true tumors from undifferentiated embryonic or altered adult cells. Glaucoma, as a rare complication, can also occur with such phakomatoses as Recklickhausen's neurofibromatosis, oculodermal melanocytosis, retinal angiomatosis (Gigschel-Lindau disease), tuberous sclerosis, diffuse congenital hemangcomatosis. However, only glaucoma associated with Sturge-Weber syndrome can be identified as a separate clinical form.
The syndrome includes angiomatous lesions of the face, pia mater and eyes. In some patients, only the face and eyes or the face and pia mater are affected. Angiomatosis can be more common: angiomas form in the mouth, nose and other organs.
The most constant and pronounced symptom is cutaneous angioma on the face. An angioma of deep red color is localized in the branching zone of the first and second branches of the trigeminal nerve, especially often involving the supraorbital region. Usually, but not always, only one side of the face is affected.
Angiomatous lesions of the soft meninges are most often localized in the occipital region, where artery calcification and gene obliteration occur. As a result, patients experience various neurological symptoms.
In the eye, hemangioma is found in the conjunctiva, episclera and choroid. Less commonly, other parts of the choroid are affected, sometimes orbital tissue. Choroidal angioma is of the cavernous type and looks like a somewhat raised yellowish-orange formation. Its size varies individually, sometimes it covers almost the entire choroid).
It is important to diagnose ocular lesions in Sturge-Weber syndrome upper eyelid rule": if the upper eyelid is involved in the process, therefore, there is damage to the eye, and, conversely, the absence of angioma on the upper eyelid indicates the absence of eye damage. However, there are exceptions to this rule.
According to G. Alexander and A. Norman (1960), glaucoma develops in every 3rd patient with Sturge-Weber syndrome. Moreover, in 60% of patients it is born and in 40% it occurs at a later age. Congenital glaucoma often results in the development of buphthalmos and blindness. Later glaucoma occurs as OAG or chronic PAOG. Usually one eye is affected, less often the disease is bilateral.
There are different points of view on the mechanisms of increased IOP in Sturges-Weber syndrome. The decisive role appears to be played UPC dysgenesis, developmental defects of the ocular drainage system and increased episcleral venous pressure. The latter factor is associated with episcleral hemangiomas and arteriovenous shunts.
Treatment of glaucoma in patients with Sturge-Weber syndrome- a difficult problem. Only in mild cases is it sufficient to prescribe antihypertensive drugs. Trabeculectomy is the most commonly used surgical intervention. It should be borne in mind that a sharp decrease in IOP can lead to serious complications. Abundant transudation of fluid from the choroidal angioma causes anterior displacement of the contents of the eye, up to the loss of the vitreous body into the wound. The risk of expulsive bleeding is also significantly increased. Other complications include persistent bleeding from the episcleral vessels and cut ends of the scleral sinus with the formation of recurrent hyphemas. To prevent these complications, IOP should be reduced as much as possible before surgery, prophylactic posterior sclerectomy (two holes in different segments) should be performed, and ADC should be reduced. Resection of the deep limbal plate should be performed anterior to the scleral sinus, avoiding damage to it. L.V. Vyazigina and Yu.E. Batmanov (1985) proposed turning off the area of Schlemm’s poop in the area of the planned operation between the mouths of large venous collectors using an argon laser. This manipulation reduces the risk of bleeding from the ends of the cut canal during and after surgery.
Neurofibromatosis . Neurofibromatosis is classified as phakomatoses. It is a neuroectodermal dysplasia characterized by proliferation of peripheral nerve elements with the formation of tumor-like structures. The disease is transmitted in an autosomal dominant manner. The main lesions are localized in the skin, peripheral and central nervous systems
In eye practice we have to deal with damage to the eyelids, conjunctiva, orbit, cornea, choroid, retina, and optic nerve. The upper eyelid is especially often affected, where a plexiform fibroma is formed, often spreading to the temporal region. One party is usually involved in the process; less often there are bilateral changes. Neurofibromatous nodules or diffuse infiltration may occur on the conjunctiva, episclera, cornea, and iris. Sometimes there is a significant thickening of the choroid and ciliary body due to tissue proliferation. Meningiomas and gliomas are described in the optic nerve, and neurofibromas are described in the orbit.
Glaucoma rarely develops, is often combined with lesions of the upper eyelid and is usually (but not always) unilateral. The cause of increased pressure is dysgenesis of the UPC, abnormalities in the development of the scleral sinus, or pretrabecular blockade by neurofibromatous tissue. In some cases, angle-closure glaucoma develops, caused by anterior displacement of the iridolenticular diaphragm due to thickening of the choroid and ciliary body.
Drug treatment glaucoma associated with neurofibromatosis is successful only in rare cases. The choice of surgical treatment method depends on the experience of the ophthalmic surgeon and the characteristics of the disease in a particular case. More often a trabeculotomy or trabeculectomy is performed.
Rubella
. A variety of birth defects are found in newborns whose mothers contracted rubella in the first trimester of pregnancy. They experience delayed general development, deafness, heart disorders and eye lesions. The latter include (in order of frequency) retinopathy, strabismus, cataracts, nystagmus, microphthalmos, microcornea, optic atrophy, corneal opacities, glaucoma, eyelid defects, and iris atrophy)
