Eye diseases in children: list from birth to school age. Hereditary retinal dystrophies Genetic eye diseases associated with gender

Many parents suffering from eye diseases worry that their children will also have vision problems. Some eye diseases are actually hereditary, but sometimes they can be prevented. This article will discuss the types of hereditary eye diseases and the causes of their occurrence.

If we look at statistics, we can see that almost ten percent of all diseases are inherited at the genetic level. As mentioned above, this also includes diseases. Many of them are asymptomatic and do not affect visual acuity, so not in all cases one can even suspect that a person has any problems in the functioning of the visual system.

Causes of congenital eye diseases

It is worth noting that the main cause of vision pathologies is gene mutation, which provokes the development of hereditary eye diseases. What other reasons provoke the appearance of eye diseases in a child? So, among the main reasons are:

1. Pathologies of tissue development during pregnancy;
2. Hormonal disorders;
3. Incompatibility of Rh factors of mother and fetus;
4. Age of parents (most often, organ pathologies occur in children of those parents who decided to have a child before 16 years of age or after 40);
5. Chromosome mutations;
6. Difficult or pathological childbirth;
7. Incest, which often leads to the development of fetal abnormalities.
8. The influence of environmental factors, among which are: radiation, infectious and viral diseases suffered during pregnancy, alcohol abuse and smoking of the expectant mother, etc.

What eye diseases are inherited?

Here it is worth immediately noting that hereditary eye diseases are divided into three large groups:

1. Congenital pathologies (in this case, surgical treatment is prescribed);
2. Minor defects (as a rule, they do not require special treatment);
3. Eye abnormalities associated with diseases of other organs.

List of major eye diseases that are inherited:

1. Colorblindness (a person does not distinguish colors);
2. Microphthalmos (disproportionately small in humans);
3. Anophthalmos (absence of one or two eyeballs);

4. Abnormalities of the cornea - for example, a change in its shape (keratoconus) or congenital opacification.
5. Glaucoma (increased intraocular pressure);
6. Cataract (clouding of the lens of the eye);
7. Anomalies in the structure of the eyelids.
8. Myopia (myopia) is an eye disease in which a person sees poorly in the distance, but sees well near.
9. Nystagmus (involuntary movements of the eyeballs).

If future parents have any eye diseases, they should consult a geneticist for advice. The specialist will tell you what preventive and therapeutic measures parents will need to take.

This is a rare disease. A detailed picture of the disease is present when the syndrome is inherited. Hippel-Lindau syndrome is transmitted by a defective gene in the third pair of chromosomes as an autosomal dominant disease, i.e. It is enough to have one copy of the “sick” gene to get the disease; it is enough for only one of the parents to have one “sick” gene, and 50% of the children of such a person have a chance of getting the disease. In the hereditary form of the disease, health problems usually appear in the first 20 years of life.

But not all patients diagnosed with hemangioblastoma of the retina or central nervous system (CNS) have a hereditary syndrome. In fact, most patients with only one tumor do not have affected relatives and do not acquire other tumors. It is believed that such people have sporadic (random, first-time)

Retinal hemangioblastoma is diagnosed upon examination of the fundus as a nodule of various sizes with a developed vascular network around it. The liquid part of the blood is often filtered through the leaky walls of hemangioblastoma vessels, which causes retinal swelling or detachment. In advanced cases, the eye dies from retinal detachment or glaucoma. Retinal hemangioblastomas are not life-threatening; in this sense, they are benign tumors. Their malignancy is associated with their localization in the eye, which can lead to blindness. CNS tumors also do not metastasize, but are already life-threatening, again due to their location. As a rule, they develop in the posterior cranial fossa, where vital centers that control heartbeat, breathing, and digestion are located. Their compression can lead to death. Kidney cancer and pheochromocytomas are dangerous due to their ability to spread throughout the body.

Treatment of the disease depends on the location, number and size of the tumor(s). For small and medium-sized retinal tumors, laser coagulation of the tumor and adj.

For timely diagnosis of life-threatening manifestations of Hippel-Lindau syndrome, a regular examination is necessary, which should include: 1) an annual examination by a therapist, neurologist and ophthalmologist (with a thorough examination of the fundus), 2) an annual examination of urine for vanillyl mandelic acid, 3) magnetic resonance imaging of the brain every 3 years until the age of 50, then every 5 years, 4) computed tomography of the abdominal wall organs every 1−5 years, 5) angiography of the renal vessels when the patient reaches 15−20 years of age, repeating the procedure every 1−5 years.

The cost of treatment can vary greatly depending on which organ is affected and what kind of surgery is required. Unfortunately, this systemic disease cannot be cured, and the only thing that is available to modern medicine is the treatment of complications of this disease. Laser photocoagulation of the retina is often indicated as a way to prevent further deterioration of vision. As a treatment method, this operation has one of the highest safety rates.

Patients and families contact for genetic counseling to obtain information about the nature of the disease, the risk of developing the disease or transmitting it to children, about the problems of genetic testing, childbirth and treatment. Genetic counseling aims to help patients understand the information received, choose the best course of action and best adapt to the disease.

Accurate diagnostics- the main condition for effective genetic counseling. Diagnosis of many hereditary eye diseases is based on clinical data, this requires the participation of clinical specialists and, often, a multidisciplinary approach, including genetic, ophthalmological and electrophysiological studies.

Diagnosis is based on a detailed family history with the construction of a pedigree tree of three generations, examination (often of several family members), as well as on medical history, including a description of systemic manifestations. It is extremely important to be alert for ocular and extraocular manifestations of the disease.

Genetic counseling with hereditary eye diseases can be a particularly difficult task. Heterogeneity and overlap of phenotypes make diagnosis difficult for patients to understand. Many hereditary retinal diseases are accompanied by progressive deterioration of vision and require preliminary adaptation to the need for care. The communication needs of patients with visual impairments require that information be delivered to them in an appropriate format.

A) Genetic laboratory tests. Molecular analysis has become cheaper and more accessible, and is now widely used in the clinic. The clinician needs to be aware of its capabilities. For monogenic inherited eye diseases, the analysis will likely involve gene sequencing. Tests are performed as a complement to a detailed clinical examination. They are carried out to clarify the diagnosis, for example, in diseases characterized by extreme genetic heterogeneity that are clinically indistinguishable.

In future genetic diagnostics may be required for gene-specific treatment (drug or gene therapy). If assessing the risk, for example, in a disease with dominant inheritance, is not difficult, then for relatives of a patient with a dominant phenotype with reduced penetrance (dominant optic atrophy and autosomal dominant congenital cataracts) or children of women from a family where men suffer from X-linked With retinoschisis it is more complex.

Molecular analysis performed based on DNA material, isolated from the peripheral blood or saliva of one sick patient (proband) or a wider circle of relatives. Once a pathogenic mutation is identified, other family members can be screened, incl. unborn, for its presence.

b) What is a mutation? Genetic variability results from the process of DNA mutation. Various mechanisms of mutations in human hereditary genetic and mendelian diseases have been described. Most of them represent an all-or-nothing phenomenon: sick patients are carriers of pathogenic genetic changes ("mutations"), while healthy individuals are not. In such cases, sick representatives of this family are carriers of the same genetic changes, and these changes do not change.

However, there is a small group of diseases, which include, for example, myotonic dystrophy, characterized by “dynamic” mutations, in which genetic changes in different generations of the same family can vary.

1. Chromosomal alterations. The most gross genetic changes are alterations at the chromosome level, namely cytogenetically visualized rearrangements such as deletions, inversions, duplications and translocations. Such a “genomic imbalance” is very poorly tolerated, and during the entire period of research, only a small part of all possible rearrangements was observed. Such changes include trisomies (eg, trisomy 21 or Down syndrome) as well as large chromosomal deletions (eg, chromosomal deletion 11p causing WAGR syndrome, see above).

2. Submicroscopic genomic rearrangements. It is now possible to compare subtle differences in DNA copy numbers between different individuals. “Submicroscopic genomic rearrangements” include both the loss of genetic material (microdeletions) and the increase in its amount (microduplications) and are the causes of hereditary human diseases. For example, submicroscopic deletions of the X chromosome have been described in choroideremia, xLRP, and Norrie disease.

3. Monogenic mutations. Many hereditary eye diseases develop as a result of pathological changes in a single gene. The best described mutations are single base substitutions, also called “point mutations.” The Cardiff Human Gene Mutation Database is an online repository of information on identified human gene mutations. Pathogenic point mutations can lead to the replacement of one encoded amino acid with another (missense mutations). If these changes cause the protein to malfunction, it leads to disease.

A change in one base that leads to to the formation of a stop codon from a codon, normally encoding any amino acid, is called a nonsense mutation. Most nonsense mutations cause a decrease in the amount of protein produced during translation.

After transcription from immature mRNA molecule During the splicing process, excess sections are cut out and mature mRNA is formed. Splicing is a complex process during which a huge protein complex (spliceosome) interacts with mRNA molecules. There are a huge number of mutations - especially those located at or near the junction between exons and nitrons - that cause interruption of the splicing process (splicing mutations).

Others often common DNA mutations, causing monogenic human diseases, are small deletions/insertions in which up to 20 base pairs of DNA are lost or inserted. Insertion/deletion mutations less than three bases in length cause a shift in the reading frame of the gene and the formation of a premature termination codon. Most of these mutations result in the formation of mRNA from which the polypeptide is not translated.

V) DNA sequencing. It is believed that in diseases transmitted according to Mendelian laws, most patients are carriers of one pathogenic DNA change (mutation). Most of these mutations are located within or near the coding sequences of genes, the list of which is growing.

1. Traditional DNA sequencing. Until recently, DNA sequencing was performed using traditional methods. This was done by amplifying short fragments of each gene (perhaps 300-500 base pairs) using polymerase chain reaction. Therefore, the process of sequencing small genes is easier and cheaper than sequencing large genes. It takes ten times longer to study ten genes of the same size than to study a single gene. This kind of work is expensive and time consuming. In some situations, the results of gene analysis determine the tactics for further patient management.

At xLRP Most patients have mutations in one of two genes (RP2 and RPGR), so the traditional sequencing method using modern technologies turns out to be quite simple and informative for practical use. This is also true for stromal corneal dystrophies caused by mutations of the TGFBI gene of chromosome 5q31, since the number of mutations causing Bowman's membrane dystrophies (Thiel-Behnke and Reis-Buckler), as well as granular and cribriform type I, is very small.

But mutation analysis may be difficult even if the disease is caused by mutations in a single gene. For example, laboratory diagnosis of Cohen's syndrome and Alström's syndrome is very difficult due to the size and complexity of the genes whose mutations cause these diseases. In the case of ABCA4 (its mutation causes Stargardt disease), which contains 51 exons and 6000-7000 base pairs of DNA, sequencing the gene becomes an incredibly time-consuming task. In addition, the sensitivity of the method for detecting mutations, including known ABCA4 mutations, is significantly less than 100%. As a result, the value of a negative result is greatly reduced.

Finally, for some genes, including ABCA4, normally there is a high degree of variability for both the gene and the encoded protein. Answering the question of whether a variation resulting in a single amino acid substitution is pathogenic remains a challenge.

2. High-throughput DNA sequencing. In genetically heterogeneous diseases (eg, congenital cataracts, neuroopticopathy, arRP, Usher syndrome), when mutations in a huge number of genes are possible and there is no predominance of mutations in any one gene, a diagnostic strategy based on traditional DNA sequencing is of little use. Some success has been achieved with the advent of DNA chips, which make it possible to identify previously described mutations (for example, Leber congenital amaurosis, Stargardt disease), but these techniques are applicable mainly to previously examined populations and their value is limited.

Massive parallel DNA sequencing, also called next-generation sequencing, may be able to change this situation. These developments make it possible to sequence the entire human genome and provide the opportunity to analyze all exons of all genes or any part of them in any patient. With the help of these technological developments, it has already been possible to significantly speed up the process of identifying unknown genes whose mutations cause human diseases. With the price falling (it is projected that sequencing the entire human genome will cost as little as $1,000 in the not-too-distant future), there is a real possibility that large-scale genetic research will become a reality.

These studies will require solutions Problems storing huge amounts of data, since such systems produce gigantic volumes of information. Moreover, since many of the abnormalities that cause human eye disease are missense disorders, and since a huge number of our genes normally have differences manifested by the substitution of one amino acid for another, the challenge arises of identifying one pathogenic one from the huge variety of benign variants that carries which each individual is.

G) Genetic testing: counseling and ethical considerations. Genetic testing is becoming increasingly accessible. Families and clinicians can use genetic testing to confirm diagnosis and inheritance patterns, and perhaps in the future, participate in gene-specific therapy studies. Genetic testing can have significant and far-reaching consequences for an individual and their family. A patient intending to undergo genetic testing may need to think about how he will inform his relatives, incl. further, how the results of the test will affect his decision to have children and other life-determining decisions, and about related aspects, such as health and life insurance. When referring for genetic testing, counseling and informed consent are important.

1. Prognostic or presymptomatic examination. For late-onset diseases for which the gene responsible for their development is known (for example, TIMP3 and Sorsby's fundus dystrophy), clinically healthy individuals with a 50% risk may agree to undergo genetic testing to determine whether they are carriers. For late-onset genetic diseases, such as Huntington's disease and cancer predisposition syndromes, high-quality counseling protocols are important, taking into account the pros and cons of the study, the impact of its results on the patient and his life-determining decisions, psychological support in adapting to the results and other aspects such as insurance.

The principles of management of patients who have received a diagnosis of incurable progressive vision loss that will affect their life choices, dependency on care and emotional well-being are consistent.

2. Media examination. For recessive X-linked diseases, once a patient has been identified as having a genetic mutation, other members may agree to undergo carrier testing. In case of related marriages, spouses will be able to find out if they are a pair of carriers. Women may agree to be tested for X-linked diseases in order to decide whether to have children, perform prenatal testing, or to be more aware and prepared for the development of the disease in future sons. The implications of this information for the couple and the support that may be required after the survey has been completed should be considered as part of the screening process.

3. Examination of children. Indications for examination may arise in cases of diseases that debut in childhood, when the results of the analysis will affect the management of the patient or the decision on assistance in upbringing/education. However, careful counseling and preparation of parents for such decisions is important, since information about genetic status and risks can greatly influence the child's parenting process. For diseases that may not become clinically apparent until adulthood, it is usually recommended to wait until the patient is old enough to make decisions for themselves.

4. Prenatal examination. If there is a known genetic mutation in the family, the spouses have the opportunity to conduct prenatal diagnosis. Chorionic villus sampling (at 11 weeks) and amniocentesis (at 16 weeks) allow accurate genetic diagnosis. Because these tests are invasive, there is a small risk of miscarriage.

It is necessary to pay attention to the reasons that motivate individuals to undergo testing. The decision to terminate or continue pregnancy if the test results are positive is made individually based on personal experience, resistance to stress (coping strategies) and available support. Although prenatal examination is rarely performed for late-onset eye diseases, in families with early onset blindness or multiple congenital anomaly syndromes, such as Lowe's and Norrie's diseases, prenatal diagnosis is advisable, and if pathology is detected, termination of pregnancy.

Preimplantation genetic diagnosis involves the examination of IVF embryos before implantation into the uterus. Such testing is becoming available for several genetic eye diseases, but poses new ethical issues that will have to be addressed in counseling.

d) Clinical examination. A clinical examination may be as important as a genetic laboratory test. Individuals who do not complain may have subtle ocular changes that indicate their genetic status. Therefore, the ophthalmologist should be prepared to inform and counsel the patient prior to testing for hereditary eye diseases so that the patient is informed and prepared in the event that genetic abnormalities are identified.

Children are touching and defenseless creatures. It is especially difficult when they are sick. Unfortunately, it is almost impossible to protect children from some diseases, while other diseases can be prevented. In order for children to have no consequences after suffering illnesses, you need to promptly notice that something is wrong and consult a doctor.

Vision problems in children

Impaired quality of vision is one of the reasons for delayed development of children in the first years of life. If preschoolers' vision suffers, they cannot prepare properly for school and their range of interests is limited. Schoolchildren with low vision are associated with a decrease in academic performance and self-esteem, a limited opportunity to play their favorite sport, and choose a profession.

The child's visual system is at the stage of formation. It is very flexible and has enormous reserve capabilities. Many diseases of the visual organs can be successfully treated in childhood if they are diagnosed in a timely manner. Unfortunately, treatment that is started later may not produce good results.

Eye diseases in newborns

Many visual impairments develop as a result of congenital diseases. They are detected immediately after birth. After treatment, children develop better and their range of interests expands.

In newborn children, ophthalmologists diagnose the following diseases of the organ of vision:

• Congenital. This is a clouding that manifests itself as decreased visual acuity and a grayish glow. Due to the disruption of the transparency of the lens, light rays cannot fully penetrate the lens. For this reason, the cloudy lens must be removed. After surgery, the child will need special glasses.
• Congenital - a disease of the organ of vision in which intraocular pressure increases. This occurs due to a disruption in the development of the pathways along which the outflow occurs. Intraocular hypertension causes stretching of the membranes of the eyeball, increasing its diameter and clouding of the cornea. Compression and atrophy of the optic nerve occurs, which causes gradual loss of vision. With this disease, eye drops that reduce intraocular pressure are constantly instilled into the conjunctival sac. If conservative treatment is ineffective, surgical intervention is performed.
• Neonatal retinopathy is a retinal disease that occurs mainly in premature babies. With this pathology, the normal growth of retinal vessels stops. They are replaced by pathological veins and arteries. The retina develops fibrous tissue and then scars. Over time, the retina occurs. At the same time, the quality of vision is impaired, sometimes the child stops seeing. The disease is treated with laser therapy; if it is ineffective, surgery is performed.
• is a condition in which one or both eyes look in different directions, that is, they deviate from a common point of fixation. Until the fourth month of life, the nerves that control the extraocular muscles are not formed in children. For this reason, the eyes may deviate to the side. In cases where strabismus is severe, consultation with an ophthalmologist is necessary. In children, spatial perception may be impaired and develop. In order to correct strabismus, it is necessary to eliminate the cause of the disease. To do this, children are prescribed special exercises to train weakened muscles and undergo vision correction.
• represents involuntary movements of the eyeballs either in a horizontal position or in a vertical position. They can rotate in a circle. The child is unable to fix his gaze and does not develop high-quality vision. Treatment for this disease involves correcting visual impairment.
• Ptosis is a drooping of the upper, which occurs due to underdevelopment of the muscle that lifts it. The disease can develop due to damage to the nerve that innervates this muscle. When the eyelid droops, little light penetrates into the eye. You can try to fix the eyelid with an adhesive tape, but in most cases, children aged 3 to 7 years undergo surgical correction of ptosis.

Visual impairment in preschool children

Strabismus

One of the diseases that leads to impaired vision in preschool children is strabismus. This pathology can be caused by the following reasons:

• uncorrected disorder;
• decreased visual acuity in one eye;
• damage to the nerves responsible for the functioning of the extraocular muscles.

If you have strabismus, the image of an object does not fall on the same areas of the eyes. In order to get a three-dimensional picture, the child cannot combine them. In order to eliminate double vision, the brain removes one eye from visual work. The eyeball, which is not involved in the process of perceiving an object, deviates to the side. This is how either a convergent squint is formed, towards the bridge of the nose, or a divergent squint, towards the temples.

It is recommended to start treatment of strabismus as early as possible. Patients are prescribed glasses that not only improve the quality of vision, but also give the eyes the correct position. If the oculomotor nerves are damaged, electrical stimulation is used and exercises are prescribed to train the weakened muscle. If such treatment is ineffective, the correct position of the eyes is restored surgically. The operation is performed on children aged 3-5 years.

If one eye is tilted to the side or sees worse, amblyopia develops. Over time, visual acuity in the unused eye decreases. To treat amblyopia, the healthy eye is excluded from the visual process and the affected organ of vision is trained.

Pathology of refraction

The following refractive errors are often diagnosed in preschool children:

• . It most often occurs in children aged 3 to 5 years. If hypermetropia reaches 3.5 diopters in one eye, and there is different visual acuity in both eyes, amblyopia and strabismus may develop. To correct vision, children are prescribed glasses.
• The child has difficulty seeing into the distance. His visual system is unable to adapt to such an anomaly, so even with a slight degree of myopia, children are prescribed glasses correction.
• In this case, the image of objects located both near and far away is distorted. For this pathology, correction is prescribed with complex glasses with cylindrical lenses.

Eye diseases in schoolchildren

School-age children are also susceptible to refractive errors.

Myopia

With this visual impairment, the size of the eyeball increases or light rays are refracted excessively. They converge in front of the retina, and a blurry image is formed on it. Due to the active growth of the eyeball and increased load on the apparatus, children aged 8-14 years develop myopia. The child cannot see what is written on the school board where the ball is while playing football. To correct myopia, children are prescribed glasses with diverging lenses.

Farsightedness

Farsightedness, or hyperopia, is a refractive error that occurs due to the small size of the eyeball or insufficient refraction of light rays. In this case, they converge at an imaginary point located behind the retina. A fuzzy image is formed on it. Most often, farsightedness is first detected in children of ten years of age. If hypermetropia is low, then the child can clearly see objects located in the distance. Due to its good accommodative function, it clearly sees objects located at close range. Glasses are prescribed to schoolchildren if there are the following indications:

• farsightedness above 3.5 diopters;
• deterioration of visual acuity in one eye;
• appearance when working at close range;
• presence of headaches;
• eye fatigue.

To correct hyperopia, children are prescribed glasses with converging lenses.

Astigmatism

Astigmatism is a visual impairment in which light rays are refracted differently in two mutually perpendicular planes. As a result, a distorted image is formed on the retina of the eye. The cause of astigmatism may be uneven curvature formed as a result of a congenital abnormality of the eyeball. If the difference in refractive power does not exceed 1.0 diopter, then it is easily tolerated. In the case where astigmatism is of a higher degree, the contours of objects that are at different distances are not clearly visible. They are perceived as distorted. The difference in refractive power is compensated by complex glasses with cylindrical lenses.

With accommodation disorder, clarity of perception is lost when examining objects that are at different distances or are moving relative to the observer. It develops due to a violation of the contractility of the ciliary muscle. In this case, the curvature of the lens remains unchanged. It provides clear vision only at distance or near.

In children aged 8 to 14 years, as a result of excessive stress on the eyes, it occurs. The ciliary muscle contracts and loses its ability to relax. The lens becomes convex. It provides good near vision. In this case, schoolchildren have difficulty seeing into the distance. This condition is also called false myopia. When there is a spasm of accommodation, children perform gymnastic exercises for the eyes and are prescribed instillation of special drops.

Convergence insufficiency is an impairment in the ability to direct and maintain the visual axes of both eyeballs on an object that is at close range or moves towards the eye. In this case, one or both eyeballs deviate to the side, causing double vision. Convergence can be improved with special exercises.

If the patient is unable to combine two images that are formed on the retina of the left and right eyes in order to obtain a three-dimensional picture, a binocular vision disorder develops. This happens due to differences in the clarity or size of the images, as well as when they fall on different parts of the retinas. In this case, the patient sees two images simultaneously, which are offset from one another. To correct diplopia, the brain can suppress the image that forms on the retina of one eye. In this case, vision becomes monocular. In order to restore binocular vision, it is necessary, first of all, to correct visual impairment. The result is achieved through long-term training of both eyes working together.

What else can be done to restore a child’s vision?

For refractive errors in children (myopia, hypermetropia and astigmatism), as well as strabismus and amblyopia, most ophthalmologists prescribe courses of hardware treatment, which have a good effect. If earlier for this, young patients and their parents needed to visit the clinic, wasting time on travel and queues (and sometimes nerves and money), but now, with the development of technology, a whole range of effective and safe devices have appeared that can be used at home. The devices are small in size, affordable and easy to use.

The most popular and effective devices for home use

Sidorenko glasses (AMBO-01)- the most advanced device for self-use by the patient for various eye diseases. Combines color pulse therapy and vacuum massage. Can be used both in children (from 3 years old) and in elderly patients.

Vizulon- a modern color pulse therapy device, with several programs, which allows it to be used not only for the prevention and complex treatment of vision diseases, but also for pathologies of the nervous system (migraines, insomnia, etc.). Available in several colors.

The most famous and popular eye device based on color pulse therapy methods. It has been produced for about 10 years and is well known to both patients and doctors. It is characterized by low price and ease of use.

Ophthalmologists know hundreds of eye diseases. Each such disease without timely treatment can cause vision loss.

Most eye diseases occur due to inflammatory processes. The inflammatory process, which appears on the periphery, if left untreated, can go deeper into the eye and cause serious complications.

Modern medicine is developing very quickly, so the list of incurable human diseases associated with the eyes is shrinking every year. But this does not mean at all that if symptoms of ophthalmic diseases appear, you can delay visiting a doctor. The later a patient turns to ophthalmologists, the less opportunities they have to provide assistance to him.

Symptoms of eye diseases in humans

Despite the wide variety of eye diseases, most of them have similar symptoms. In particular, patients seeking help from doctors describe the following symptoms:

This is not a complete list of symptoms of eye diseases. However, the symptoms listed above are observed in almost all eye diseases.

Types of eye diseases

Since there are a lot of pathologies affecting the organs of vision, for ease of diagnosis, doctors divided them into several types. This division greatly facilitates the selection of effective treatment.

Taking into account the affected structures of the visual organs, eye pathologies are divided into the following types:

It is worth noting that the most common diseases are inflammatory in nature: barley, blepharitis and conjunctivitis. In second place in terms of frequency of detection are diseases that change visual acuity: myopia, farsightedness, astigmatism and presbyopia.

The most dangerous are glaucoma, cataracts and retinal dystrophy. These pathologies very often cause complete loss of vision.

Retinal diseases

The retina is called the inner shell. This is a very important element of the eyeball, because it is responsible for forming an image, which is then transmitted to the brain.

The main sign indicating the presence of retinal diseases is a sharp decrease in visual acuity. Naturally, an accurate diagnosis cannot be made based on this symptom alone, so doctors carefully examine the patient.

The most commonly detected retinal pathologies are:

The danger of retinal pathologies is very high. Therefore, if the symptoms described above appear, you should not postpone a visit to the ophthalmologist.

The eyelids provide protection to the eyeballs from external influences. A tenth of all eye diseases occur on the eyelids. The most common of them are:

The tear ducts are located in close proximity to the eyelids. Therefore, in ophthalmology, these diseases are combined into one group.

It is worth noting that, unlike diseases of the eyelids, pathologies of the tear-producing apparatus are rare, but doctors pay special attention to them, since they can cause very serious complications.

At the same time, diseases of the lacrimal apparatus are quite common. They are mainly related with obstruction of the lacrimal ducts.

As a rule, diseases of the lacrimal organs do not respond well to therapeutic treatment, so doctors often solve problems with surgical methods.

Sclera and cornea

The sclera and cornea are closely interconnected. The first is a protective shell of collagen and white connective tissue. The second is an arcuate transparent shell, allowing light to penetrate and focus on the retina. The sclera on the front, open part of the eye merges into the cornea.

Diseases of the cornea and sclera occur in 25% of patients visiting ophthalmology clinics.

The most common diseases of the sclera include:

Treatment of these eye diseases can be either therapeutic or surgical. When surgically treating the cornea, doctors often resort to keratoprosthesis.

Optic nerve

All diseases affecting the optic nerve can be divided into 3 main groups:

• Neuritis.
• Vascular diseases.
• Degenerative.

Neuritis can be descending or ascending. In the first case, inflammation can be localized on any part of the optic nerve. In the second case, the inflammatory process first affects the intraocular, and then the intraorbital part of the nerve.

With any disease of the optic nerve, there is a significant decrease in central vision and a narrowing of the field of vision.

Neuropathy is degenerative damage to the optic nerve. It can occur with ischemic disease and exposure to toxic substances. The main symptom of this pathology is loss of color perception. Besides, the patient may complain of pain while moving the eyeballs.

To treat diseases affecting the optic nerve, doctors use steroid hormones and non-steroidal anti-inflammatory drugs, orbital decompression and surgery.

Oculomotor apparatus

These diseases are identified quite simply. The fact is that patients with such pathologies have an incorrect position of the eyeballs, a disturbance in eye mobility, their divergence and convergence.

Most often, ophthalmologists encounter the following lesions of the oculomotor system:

Treatment is the same x diseases mainly comes down to fighting with underlying diseases and special exercises to normalize muscle function.

By the way, the names of eye diseases in people most fully reflect the essence of pathologies of the oculomotor system, since they accurately indicate the source of the problem.

List of hereditary human diseases with descriptions

Many diseases of the human eye are of a genetic nature. That is, they are determined by heredity. Some of these diseases are congenital, while others develop after birth. under the influence of various factors.

Cat's eye syndrome

The disease is expressed in pathological changes in the irises And. The reason for the changes lies in mutations affecting the 22nd chromosome. Patients with cat eye syndrome have partial deformation of the iris or its complete absence.

Due to the deformation, the pupil in such patients is often elongated vertically and is very similar to a cat's eye. Because of this, the disease got its name.

Often, cat eye syndrome is combined with other developmental pathologies: underdevelopment of the reproductive system, congenital heart disease, defects in the formation of the rectum, etc.

If the symptoms of such disorders are moderate, then after surgical treatment the patient can live a relatively normal life. But when there are serious violations of the internal organs, the patient dies.

Colorblindness

This congenital pathology is expressed in impaired color perception. A person with color blindness is unable to perceive certain colors normally. Typically these are shades of green and red. The disease is most often caused by an abnormal development of receptors in the eyes.

The disease is transmitted through the maternal line, but manifests itself predominantly in men. The latter suffer from color blindness 20 times more likely than women.

Optic nerve hypoplasia

Another congenital disease. It manifests itself in the small size of the optic disc. In severe cases of pathology, the patient may have no visual nerve fibers at all.

The disease has the following symptoms:

• Low vision.
• Weakening of the oculomotor system.
• Presence of blind spots in the field of vision.
• Problems with color perception.
• Impaired pupil motility.

Often weakening of the muscles of the eyeball due to hypoplasia causes strabismus.

If the disease is detected in a child, it can be partially cured. In an adult, it cannot be corrected.

Cataract treatment

The lens is of great importance for vision, despite its miniature size. Its clouding leads to serious vision loss.

Cataract is called a cataract. This disease can be acquired or congenital. In addition, doctors divide it according to the type of course into age-related, toxic, systemic and traumatic.

A patient with cataracts thinks that he is healthy, because the disease does not manifest itself in any way or its manifestations are very minor. And when bright symptoms of pathology appear, then conservative treatment does not give the desired effect. Therefore, cataract prevention is very important., expressed in an annual examination by an ophthalmologist.

Until the middle of the last century, cataracts were considered an incurable disease. All the doctors could do was remove the clouded lens. Everything changed in 1949, when the Englishman Harold Ridley performed the first operation to install an artificial lens made of polymethyl acrylate. Since then, cataracts have ceased to be a death sentence.

In modern eye clinics, doctors can choose which treatment to apply to a cataract patient.

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