Hereditary eye diseases. Glaucoma is a hereditary disease. Causes of congenital eye diseases

Damage to the organ of vision. Depending on the cause of the injury, there are mechanical damage to the eyes (the most common), thermal, chemical and radiation. Injuries are divided into superficial and penetrating. Most often, superficial injuries lead to damage to the mucous membranes of the eye, cornea and eyelids. In such cases, after first aid, an antiseptic bandage is applied to the eye and a number of drugs are prescribed: antibiotics, corticosteroids, sanitizing drops, calcium chloride with streptomycin. Penetrating eye injuries are much more severe than superficial ones, since in the vast majority of cases they lead to loss of the eyeball or irreversible blindness. A separate place among eye injuries is given to eye burns. See Eye burn.

(trahoma) - a chronic viral disease of the eye, in which the conjunctiva turns red, thickens, grayish grains (follicles) are formed, successively disintegrating and scarring. If left untreated, it leads to purulent inflammation of the cornea, its ulceration, inversion of the eyelids, the formation of a walleye, and blindness. The causative agents of trachoma are chlamydia viruses similar to the virus, which multiply in the epithelial cells of the conjunctiva, often forming colonies wrapped in a mantle. The disease is transmitted from diseased eyes to healthy ones through hands and objects (handkerchief, towel, etc.) contaminated with secretions (pus, mucus, tears), as well as flies. The incubation period is 7–14 days. Both eyes are usually affected. Treatment: antibiotics, sulfonamides, etc.; with trichiasis and some other complications and consequences - surgical. The incidence of trachoma is determined by social factors: the economic and cultural level, and sanitary and hygienic living conditions of the population. The greatest number of patients is noted in the countries of Asia and Africa.

(uveitis) - inflammation of the iris and choroid and the ciliary body of the eye. There are anterior uveitis - iridocyclitis and posterior - choroiditis (leads to a decrease in acuity and a change in the field of view). The cause of uveitis can be penetrating wounds of the eyeball, perforated corneal ulcer and other eye lesions. There are also endogenous uveitis that occurs with viral diseases, tuberculosis, toxoplasmosis, rheumatism, focal infection, etc. This disease is a common cause of low vision and blindness (about 25%). If you have uveitis, you should immediately consult an ophthalmologist. The main symptoms of the disease are "fog" before the eyes, blurred vision (even complete blindness is possible), redness of the eyes, photophobia and lacrimation. For the treatment of uveitis, the patient is prescribed anti-inflammatory drugs in combination with drugs that reduce discomfort and discomfort; in addition, if uveitis is due to a specific cause, specific medications are given in eye drops, injections, or tablets, often in combination with other medications.

Blockage of tear drainage

(exophthalmos) - displacement of the eyeball forward, for example, with Basedow's disease, when its shape changes or is displaced by tissue edema or a tumor located behind the eye.

(ectropion) - Eversion of the eyelid - eversion outward of the edge of the eyelid. Eversion of the eyelid can be of a minor degree, when the eyelid simply does not adhere tightly to the eyeball or sags somewhat, with a more significant degree, the mucous membrane (conjunctiva) turns outward in a small area or throughout the eyelid, it gradually dries and increases in size. Along with the eyelid, the lacrimal opening departs from the eye, which leads to tearing and damage to the skin around the eye. As a result of non-closure of the palpebral fissure, various infectious diseases can develop, as well as keratitis, followed by clouding of the cornea. The most common is senile (atonic) ectropion, in which the lower eyelid sags due to weakening of the muscles of the eye in old age. With paralysis of the circular muscle of the eye, the lower eyelid can also sag (spastic and paralytic ectropion). Cicatricial inversion is formed due to tightening of the skin of the eyelids after injuries, burns, systemic lupus erythematosus and other pathological processes. Treatment of eyelid eversion is surgical, various plastic surgeries are used depending on the severity of eyelid eversion.

(endophthalmitis) - purulent inflammation of the inner membranes of the eyeball, usually developing as a result of infection. Symptoms are sharp pain in the eye, decreased visual acuity, visible severe inflammation of the eye. Antibiotics are usually prescribed - inside the eye in large doses. In case of severe disease, surgical operation.

(ulcus corneae) - inflammation of the cornea, accompanied by necrosis of its tissue with the formation of a defect; may be the cause of thorns.

(hordeolum) - acute purulent inflammation of the hair follicle of the eyelash or tarsal (meibomian) gland of the eyelid. The penetration of microorganisms into the hair follicle of the eyelash or sebaceous gland is observed mainly in weakened people with reduced body resistance to various kinds of infection. Barley often occurs against the background of tonsillitis, inflammation of the paranasal sinuses, dental diseases, violations of the physiological activity of the gastrointestinal tract, helminthic invasions, furunculosis, and diabetes mellitus. Often associated with blepharitis. In the initial stage of development, a painful point appears on the edge of the eyelid (with inflammation of the sebaceous gland on the eyelid from the side of the conjunctiva). Then swelling, hyperemia of the skin and conjunctiva is formed around it. After 2-3 days, a yellow “head” is found in the swelling area, after opening which pus and pieces of tissue are released. Barley is accompanied by swelling of the eyelids. Often it is recurrent. Treatment - at the beginning of the process, the area of ​​\u200b\u200bthe painful point on the eyelid is moistened with 70% ethyl alcohol 3-5 times a day, which often allows you to stop further development. With developed barley, sulfa drugs and antibiotics are used in the form of drops and ointments, dry heat, UHF therapy are used. With an increase in body temperature and general malaise, sulfa drugs and antibiotics are also prescribed orally. Compresses, wet lotions are not recommended, because. they contribute to the local spread of infectious agents. Timely active treatment and concomitant diseases can avoid the development of complications.

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Ophthalmologists are aware of hundreds of eye diseases. Each of these diseases without timely treatment can cause loss of vision.

Most eye diseases are caused by inflammation. The inflammatory process, appearing 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 when symptoms of ophthalmic diseases appear, you can delay a visit to the doctor. The later the patient turns to ophthalmologists, the less they have the opportunity to help him.

Symptoms of eye diseases in humans

Despite the wide variety of eye diseases, most of them have similar symptoms. In particular, patients seeking medical help 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 diseases of the organs of vision

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 organs of vision, 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 the formation of an image, which is then transmitted to the brain.

The main symptom indicating the presence of retinal diseases is a sharp decrease in visual acuity. Naturally, it is impossible to make an accurate diagnosis based on this symptom alone, so doctors carefully examine the patient.

The most common pathologies of the retina are:

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

The eyelids protect the eyeballs from external influences. One tenth of all eye diseases occur in 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 impaired patency of the lacrimal canals.

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 related. The first is a protective shell of collagen and white connective tissue. The second is an arcuate transparent shell, providing penetration and focusing of light on the retina. The sclera on the front, open part of the eye passes into the cornea.

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

The most common diseases of the sclera include:

Treatment of these eye diseases can be both therapeutic and surgical. In the surgical treatment of the cornea, doctors often resort to keratoprosthetics.

optic nerve

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

• Neuritis.
• Vascular diseases.
• Degenerative.

Neuritis can be descending and ascending. In the first case, inflammation can be localized in 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 view.

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

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

oculomotor apparatus

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

Most often, ophthalmologists are faced with the following lesions of the oculomotor apparatus:

Still treatment x diseases is mainly reduced to the fight with major diseases and special exercises that allow you to normalize muscle function.

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

List of human hereditary diseases with description

Many diseases of the organs of vision in humans are of a genetic nature. That is, they are hereditary. Some of these diseases are congenital, while others develop after birth. under the influence of various factors.

cat eye syndrome

The disease is expressed in a pathological change in the iris and. The reason for the changes lies in mutations affecting the 22nd chromosome. In patients with cat's eye syndrome, there is a partial deformation of the iris or its complete absence.

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

Often, cat's 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 mild, then after surgical treatment, the patient can live relatively normally. But when there are serious violations of the internal organs, the patient dies.

color blindness

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

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

Hypoplasia of the optic nerve

Another congenital disease. It is manifested by the small size of the visual disc. In a severe form of pathology, the patient may completely lack optic nerve fibers.

The disease has the following symptoms:

• Weak vision.
• Weakening of the oculomotor apparatus.
• The presence of blind spots in the field of vision.
• Problems with color perception.
• Impaired motor skills of the pupil.

Often, the weakening of the muscles of the eyeball with hypoplasia causes strabismus.

If the disease is detected in a child, then 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 a serious decrease in vision.

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

Until the middle of the last century, cataract was 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 sentence.

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

Attention, only TODAY!

Plan

Introduction

Autosomal recessive inheritance pattern

Autosomal dominant inheritance pattern

floor-linked

For all types of inheritance

Conclusion

Used Books

Introduction

In recent decades, the role of heredity in the etiology of eye diseases has increased significantly. It is known that 4 - 6% of the world's population suffer from hereditary ailments. About 2000 human diseases are hereditary, of which 10-15% are eye diseases, the same number are systemic diseases with eye manifestations. Mortality and hospitalization of these patients are the highest, therefore, early diagnosis and treatment of such diseases is not only a medical problem, but also a national one.

Children are especially vulnerable to hereditary and congenital defects. According to Canadian geneticists, congenital deformities account for 18.4%, most of which are genetically determined. Mortality in these diseases reaches 30%.

There is information about 246 pathological genes that cause congenital anomalies of the organ of vision, which manifest themselves in isolation or in combination with damage to other organs and systems. Of these, dominant are determined by 125 genes, recessive - by 91 genes, sex-related - by 30 genes. The role of hereditary factors in the etiology of the disease of the organ of vision was revealed in 42.3% of cases.

Many anomalies arise in connection with the abnormal development and formation of the eye or its individual components at different periods of ontogeny. They can develop in the very early stages of eye formation under the influence of many physical, chemical, teratogenic agents and dysfunction of hormonal processes. For example, microphthalmos is a consequence of disorders that have arisen in the phase of formation of the eye bubble. Exposure to harmful factors at later stages of eye development leads to the formation of defects in the lens, the retina of the optic nerve. However, it should be noted that the occurrence of these developmental defects may be the result of phenocopy (a hereditary change in the phenotype of an organism caused by environmental factors and copying the manifestation of any known hereditary change - a mutation in this organism).

Progress in the prevention of congenital eye diseases lies in the correct control of factors that can affect the disease of the body of a pregnant woman. Proper prenatal care and appropriate nutrition provide favorable conditions for the development of the fetus. After clarifying the diagnosis and establishing the type of inheritance of the disease, the ophthalmologist, together with a geneticist and other medical specialists, must determine the risk of such a defect in the offspring. Medico-genetic consultations contribute to the prevention of blindness from many hereditary eye diseases.

Hereditary pathology of the organ of vision in an autosomal recessive type of inheritance

Autosomal recessive inheritance occurs only when two heterozygotes are married. Therefore, such signs are found when the parents are closely related. The lower the concentration of an autosomal recessive gene in a population, the greater the likelihood of its implementation with the consanguinity of the parents.

Anophthalmos is the congenital absence or loss of one or both eyeballs. It happens true and imaginary. True anophthalmos is most often unilateral, associated with underdevelopment of the forebrain or with a violation of the “lacing off of the optic nerve. Imaginary anophthalmos is due to a delay in the development of the eyeball. On the x-ray of the skull with true anophthalmos, the optic opening is not detected, with an imaginary one it is always present.

Nystagmus (eye trembling) - fast and infrequent voluntary eye movements caused by central or local causes, due to a peculiar form of clinical cramps of the oculomotor muscles. Movements are made in the horizontal, vertical and rotational direction. Nystagmus develops when visual impairment is congenital or acquired in early childhood, when there is no fixation by the yellow spot of the retina. Nystagmus causes no trouble to patients, but they suffer greatly from a weakness of vision, which is difficult to correct. With age, its intensity may decrease. Nystagmus can also manifest itself in certain diseases of the central nervous system, with damage to the labyrinth, etc. Treatment is most often unsuccessful. The cause itself must be eliminated.

Cryptophthalmos - there is a deformation of the eyelids and the entire anterior part of the eyeball. Cryptophthalmos is often accompanied by pronounced facial deformities, syndactyly (fusion of arms and legs, for example, the little finger with the ring finger), genital anomalies, etc.

Retinoblastoma is a true malignant neoplasm of the retina that occurs in children at an early age (from a few months to 2 years). In 15% of cases, it can be bilateral. The disease is not noticeable at first, but when the disease reaches a significant size and approaches the posterior surface of the lens, the parents notice, as it were, the glow of the pupil. In this case, the eye is blind, the pupil is wide, a yellowish-white reflex is visible from the depth of the pupil. This whole complex of symptoms is called "amaurotic cat's eye." Retinoblastoma develops from immature glial elements of the retina and is initially visible as a thickening of the retina in a limited area. If the eye is not removed in time, the tumor grows into the orbit and the cranial cavity. Treatment is early removal of the eye followed by radiotherapy. Attempts of X-ray therapy, chemotherapy did not give convincing positive results.

Retinal glioma - a malignant neoplasm of the optic nerve, a tumor of glia (interstitial tissue of the central nervous system), grows slowly, reaching the size of a nut or a goose egg. It can lead to complete blindness and even death. The tumor most often develops at an early age. It is not excluded the defeat of older people. The first signs of tumors of the optic nerve are reduced vision and changes in the visual field. Exophthalmos grows slowly. In this case, the eye usually protrudes forward, its mobility, as a rule, is preserved in full. Treatment is surgical.

Hereditary pathology in autosomal dominant inheritance

Autosomal dominant inheritance of anomalies is characterized primarily by significant phenotypic variability: from a barely noticeable to an overly intense trait. As it is passed down from generation to generation, this intensity increases more and more. Apart from the inheritance of the properties of blood, modern anthropogenetics so far has information mainly only about rare traits, many of which are inherited according to Mendel's laws or represent a case of additions to them.

Astigmatism - discovered at the end of the 18th century. Astigmatism is a combination of different types of refraction or different degrees of one type of refraction in one eye. In astigmatic eyes, the two perpendicular planes of section with the greatest and least refractive power are called the main meridians. Most often they are located vertically or horizontally. But they can also have an oblique arrangement, forming astigmatism with oblique axes. In most cases, refraction in the vertical meridian is stronger than in the horizontal. Such astigmatism is called direct. Sometimes, on the contrary, the horizontal meridian refracts more than the vertical - reverse astigmatism. Distinguish between right and wrong. Incorrect usually of corneal origin. It is characterized by local changes in the refractive power on different segments of the same meridian and is caused by diseases of the cornea: scars, keratoconus, etc. The correct one has the same refractive power throughout the entire meridian. This is a congenital anomaly, inherited and changes little during life. People suffering from astigmatism (about 40 - 45% of the world's population) need optical correction, that is, they cannot see objects in different planes without glasses. It is eliminated with the help of glasses with cylindrical glasses and with the help of contact lenses.

Hemerolopia is a permanent impairment of twilight vision (night blindness). The central vision decreases, the field of vision gradually concentrically narrows.

Coloboma - a defect in the edge of the eyelid in the form of a triangular or semicircular notch. It is more often observed on the upper eyelid in its middle third. Often combined with other facial deformities. Treatment - with these anomalies, plastic surgery gives good results.

Aniridia - absence of the iris, severe congenital pathology of the vascular tract of the eye. There may be partial or almost complete aniridia. There is no need to talk about complete aniridia, since at least slight remnants of the iris root are found histologically. With aniridia, there are frequent cases of congenital glaucoma with symptoms of eyeball distention (hydrophthalmos), which depend on the fusion of the anterior chamber angle with embryonic tissue. Aniridia is sometimes associated with anterior and posterior polar cataracts, lens subluxation, and rarely with lens coloboma.

Microphthalmos - underdevelopment of the entire eyeball, with a decrease in all its sizes, a "small eye".

Ectopic lens - displacement of the lens of the lens. The most typical example is the ectopia of the lens, which is observed with a family-hereditary lesion of the entire musculoskeletal system, which is expressed in lengthening of the distal phalanges of the fingers and toes, lengthening of the limbs, weakness of the joints. Severe endocrine disorders. This disease is called arachnodactyly, or Marfan's syndrome. In the eyes, a symmetrical displacement of the lens is found. More often the lens is displaced upward and inward or upward and outward.

The displacement of the lens may be accompanied by the development of cataracts.

Congenital cataracts - congenital lens opacities that reduce vision or draw attention to themselves with conventional eye examination methods, are observed quite often and account for approximately 4 to 10% of all cataracts.

Most congenital cataracts develop as a result of intrauterine pathology and are often combined with various malformations of both the eye and other organs. The disease in most cases is bilateral, and only in 15% of children it is unilateral. Unilateral cataracts, although they lead to professional restrictions in the future due to the difficulties in restoring full-fledged binocular vision, are not the cause of visual disability. At the same time, with bilateral congenital cataracts, even after successful surgical and persistent postoperative treatment, full vision is impossible, especially if there are concomitant malformations of the eye.

The most common among congenital cataracts are zonular, diffuse, membranous, polymorphic, nuclear, anterior polar and posterior polar cataracts.

Zonular (layered) is the most common among all cataracts occurring in childhood. This form of the disease can be not only congenital. Often it appears in the first years of life. Both congenital and acquired cataracts can progress up to 20-25 years of age.

Layered cataract is characterized by clouding of one or more layers of the lens that lie between the nucleus and peripheral layers. With the usual size of the pupil, it is not always possible to see the clinical picture of a layered cataract. If the pupil is dilated, then even with side illumination it appears as a cloudy gray disk with a sharply defined or serrated edge located deep in the transparent lens. The disk is surrounded by a black rim of transparent peripheral layers of the lens. Layered cataract is always bilateral and is very similar in both eyes. Vision with layered cataracts is most often significantly reduced. The degree of reduction in visual acuity does not depend on the amount of clouding, but on its intensity. With the intensity of clouding, visual acuity may be sufficient to read, write and perform small work. The treatment of layered cataract is surgical and is indicated only with a significant decrease in visual acuity and the inability to read.

Diffuse (complete) cataract is visible to the naked eye. The pupil area is gray or whitish in color, vision is reduced to light perception. A reflex from the fundus of the eye, even with a dilated pupil, cannot be obtained. Surgical treatment.

Membranous cataract is the result of pre- or postnatal resorption of diffuse cataract. It is an opaque capsule of the lens and the remains of the lens masses. The thickness of the grayish-white film, which can be seen well when viewed with side lighting, is usually 1 - 1.5 mm. Diagnosis of this type of cataract is assisted by biomicroscopy (deepening of the anterior chamber, direct optical section of the lens) and ultrasound. The reflex from the fundus is usually absent, vision is reduced to hundredths - light perception.

Nuclear cataract is characterized by clouding of the central parts of the lens. More often these are dust-like opacities covering the area of ​​the embryonic nucleus; sometimes "riders" (radial processes that stand out against the background of the red glow of the pupil) can be observed.

Polymorphic cataract for polymorphic cataract is taken by all rare opacities of the lens of various localization, form and severity, on which the degree of vision loss depends.

Anterior polar cataract is a sharply limited white opacity no more than 2 mm in diameter, located in the center of the anterior surface of the lens. This opacification consists of highly altered, abnormally formed cloudy lens fibers located under the lens bag.

The development of anterior polar cataract is associated with a disorder in the process of detachment of the lens bud from the ectoderm. Anterior polar cataract can also develop from other intrauterine processes, as well as after birth as a result of a corneal ulcer.

A posterior polar cataract is a small, round, grayish-white opacification located at the posterior pole of the lens.

Since polar cataracts are always congenital, they are bilateral. Due to their small size, they, as a rule, do not lower vision and do not require treatment.

With congenital opacities, anomalies in the shape and position of the lens, first aid is usually not required, and the task of the pediatrician is to immediately refer a child with eye pathology to an ophthalmologist to resolve the issue of timing and methods of treatment.

Exophthalmos is a disease of the orbit, its sign is the displacement of the eye, its protrusion or, conversely, its retraction - enophthalmos. Most often, exophthalmos appears as a result of an increase in the orbital contents (tumor, foreign body, hemorrhage) or a decrease in its cavity as a result of protrusion of the bone walls of the orbit. Exophthalmos can also occur as a result of endocrine disorders, lesions of the nervous system, increased tone of the sympathetic nervous system.

Inheritance , floor-linked

Color blindness or dichromacy is a violation of color vision, it consists in the complete loss of perception of one color component. Partial color blindness is more common in men (8%) and much less common in women (0.4%). discovered and described by the English naturalist John Dalton in 1974. Violation of color vision in the driver, which led to serious consequences, was described in 1875 (in Switzerland, where a train crash occurred with a large number of victims). This tragic incident was the reason for the mandatory test of color vision among workers of all types of transport, soldiers, etc. There are several forms of color blindness: deuteronopia - a partial anomaly in the perception of green (green is mixed with gray, yellow and dark red) and protanopia - an anomaly in perception red (mix red with gray, yellow and dark green), and tritanopia - an anomaly in the perception of purple. In fact, when one of the color-perceiving components falls out, color blindness is noted not only for one color, but the perception of other colors is also disturbed. Protanop does not distinguish between red and green. Protanopia suffered from the famous physicist Dalton, who for the first time accurately described color blindness to red (1798), after whom it is called color blindness. However, the term "color blindness" is outdated and rarely used. With protanopia, the perception of both red and green colors suffers. When red rays act on the eye, only the green and violet components are excited (the first is stronger, the second is weaker).

When the green component drops out in deuteronopia, the green color will cause a slight irritation of the red and violet elements, as a result of which the eye will see an indefinite gray color. In this case, the red color will be more intense than normal, since it will not have an admixture of green, which exists normally, while the violet color will be more violet, because there is no green color, which gives the violet color a bluish tint. Deuteranopes do not distinguish light green from dark red, violet from blue, purple from gray. Blindness to green is twice as common as to red.

Tritanopia and tritanomaly as congenital disorders are extremely rare. Tritanopes mix yellow-green with bluish-green, as well as purple with red.

Hereditary pathology in all types of inheritance

Pigmentary retinal dystrophy- one of the causes of dystrophic processes in the retina with the death of its specific nerve cells is a pathological process in the end capillaries of the retina. Pigmentary dystrophy begins at a young age. At first, patients feel only a deterioration in twilight vision, and during the day they do not experience any restrictions. With the passage of time, twilight vision is detuned so sharply that it interferes with orientation even in a familiar area, a condition called “night blindness” sets in, only daytime vision is preserved. The rod apparatus - the apparatus of twilight vision - is dying. Central vision can be maintained throughout life even with a very narrow field of vision (a person looks, as it were, through a narrow pipe).

Sometimes the damage to the terminal capillaries of the retina occurs not in the peripheral parts, but in the center, for example, with macular degeneration. , where fine pigmentation of the retina is also visible, but central vision suffers. These changes may be familial. With rare exceptions, both eyes are affected, but the disease does not lead to complete blindness.

It is transmitted in an autosomal dominant, autosomal recessive manner, and is rarely X-linked (sex-linked). Different genetic forms of dystrophy have different prognosis. So, with the dominant form in patients, by the age of 50, visual acuity may decrease to 0.3, with a recessive form and sex-related visual acuity decreases to 0.1, by the age of 30. These observations are important not only for genetic prognosis, but also for studying the etiology of dystrophy.

hereditary atrophy of the optic nerve- sometimes combined with damage to the central nervous system, sometimes occur in isolation. There are severe, recessive, and more benign, dominant, forms of the disease. Men are predominantly ill. The recessive form appears immediately after birth. The dominant form begins imperceptibly at 6-7 years of age, progresses slowly, rarely leads to blindness, because. peripheral vision is largely preserved. A few months later, simple atrophy of the optic nerve develops, the entire disc turns pale, and sometimes its temporal part. Visual acuity is reduced to 0.1. There is an increase in the blind spot, a violation of color perception

The less common microphthalmos is associated with refractive error, ectopic pupil, congenital cataract, choroid and retinal pathology, and sometimes with mental retardation and is transmitted in an autosomal dominant, autosomal recessive, and hollow-linked manner.

Conclusion

The following diseases are transmitted to the pathology of vision according to the autosomal dominant type of inheritance: astigmatism, aniridia, coloboma, microphthalmos, ectopia of the lens, congenital cataracts, exophthalmos.

The following diseases are transmitted to the pathology of vision by an autosomal recessive type of inheritance: retinoblastoma, Cryptophthalmos, congenital corneal opacities, nystagmus.

The pathologies of vision transmitted by all types of inheritance include: optic nerve atrophy, pigmentary retinal dystrophy.

Used Books:

1. Yurovskaya E.D. Eye diseases / E.D. Yurovskaya, I.K. Gainutdinov.-M.: Dashkov i K°, 2007.-446p.

2. Kovalevsky E.I. Eye diseases / E.I. Kovalevsky.-M.: "Medicine, 1985.-279p.

3. Eroshevsky T.I. Eye diseases / T.I. Eroshevsky, A.A. Bochkareva.-M.: "Medicine, 1983.-448s.

4. Arkhangelsky V.N. Eye diseases / V.N. Arkhangelsk.-M.: "Medicine", 1969.-344p.

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Symptoms of amblyopia, blepharitis, myopia, glaucoma, hyperopia, cataracts, keratoconus, conjunctivitis. Flies in the eyes. Types and degree of astigmatism, its causes. Treatment of eye diseases: optical vision correction, refractive surgery.

presentation, added 05/27/2014


The structure of the eye. Fibrous, vascular and retinal membranes of the eyeball and their functions. Blind and yellow spots of the retina. Description of the lens. The structure of the vitreous body. Excretion of aqueous humor. Possible diseases of the organ of vision and its prevention.

presentation, added 10/22/2016


Structure and function of the eye. Visual defects and eye diseases: myopia (myopia), farsightedness, presbyopia (age-related farsightedness), astigmatism, cataracts, glaucoma, strabismus, keratoconus, amblyopia. Retinal diseases: detachment and dystrophy.

abstract, added 05/02/2017


Symptoms and signs of retinitis as a form of inflammatory disease of the retina. Causes of retinitis, types of the disease. Basic diagnostic tests for retinitis. Features of the treatment and prevention of eye diseases.

Biology and genetics

Aniridia is sometimes associated with anterior and posterior polar cataracts, lens subluxation, and rarely lens coloboma. Ectopic lens is a displacement of the lens of the lens. The most typical example is the ectopia of the lens observed in family hereditary lesions of the entire musculoskeletal system, which is expressed in the lengthening of the distal phalanges of the fingers and toes, the lengthening of the limbs, the weakness of the joints. In the eyes, a symmetrical displacement of the lens is found.

28. Hereditary disorders of the organs of vision:

Autosomal dominant inheritance of anomalies is characterized primarily by significant phenotypic variability: from a barely noticeable to an overly intense trait. As it is passed down from generation to generation, this intensity increases more and more. Apart from the inheritance of the properties of blood, modern anthropogenetics so far has information mainly only about rare traits, many of which are inherited according to Mendel's laws or represent a case of additions to them.

Astigmatism discovered at the end of the 18th century. Astigmatism a combination in one eye of different types of refraction or different degrees of one type of refraction. In astigmatic eyes, the two perpendicular planes of section with the greatest and least refractive power are called the main meridians. Most often they are located vertically or horizontally. But they can also have an oblique arrangement, forming astigmatism with oblique axes. In most cases, refraction in the vertical meridian is stronger than in the horizontal. Such astigmatism is called direct. Sometimes, on the contrary, the horizontal meridian refracts more than the vertical one - reverse astigmatism. Distinguish between right and wrong. Incorrect usually of corneal origin. It is characterized by local changes in the refractive power on different segments of the same meridian and is caused by diseases of the cornea: scars, keratoconus, etc. The correct one has the same refractive power throughout the entire meridian. This is a congenital anomaly, inherited and changes little during life. People suffering from astigmatism (about 40 45% of the world's population) need optical correction, that is, they cannot see objects in different planes without glasses. It is eliminated with the help of glasses with cylindrical glasses and with the help of contact lenses.

Hemerolopia persistent impairment of twilight vision (night blindness). The central vision decreases, the field of vision gradually concentrically narrows.

Coloboma defect of the edge of the eyelid in the form of a triangular or semicircular notch. It is more often observed on the upper eyelid in its middle third. Often combined with other facial deformities. Treatment with these anomalies, plastic surgery gives good results.

Aniridia absence of the iris, severe congenital pathology of the vascular tract of the eye. There may be partial or almost complete aniridia. There is no need to talk about complete aniridia, since at least slight remnants of the iris root are found histologically. With aniridia, there are frequent cases of congenital glaucoma with symptoms of eyeball distention (hydrophthalmos), which depend on the fusion of the anterior chamber angle with embryonic tissue. Aniridia is sometimes associated with anterior and posterior polar cataracts, lens subluxation, and rarely with lens coloboma.

Microphthalmos underdevelopment of the entire eyeball, with a decrease in all its sizes, a "small eye".

Ectopia of the lens displacement of the lens of the lens. The most typical example is the ectopia of the lens, which is observed with a family-hereditary lesion of the entire musculoskeletal system, which is expressed in lengthening of the distal phalanges of the fingers and toes, lengthening of the limbs, weakness of the joints. Severe endocrine disorders. This disease is called arachnodactyly, or Marfan's syndrome. In the eyes, a symmetrical displacement of the lens is found. More often the lens is displaced upward and inward or upward and outward.

The displacement of the lens may be accompanied by the development of cataracts.

Congenital cataracts congenital lens opacities that reduce vision or draw attention to themselves with conventional eye examination methods are observed quite often and account for approximately 4 to 10% of all cataracts.

Most congenital cataracts develop as a result of intrauterine pathology and are often combined with various malformations of both the eye and other organs. The disease in most cases is bilateral and only in 15% of children it is unilateral. Unilateral cataracts, although they lead to professional restrictions in the future due to the difficulties in restoring full-fledged binocular vision, are not the cause of visual disability. At the same time, with bilateral congenital cataracts, even after successful surgical and persistent postoperative treatment, full vision is impossible, especially if there are concomitant malformations of the eye.

The most common among congenital cataracts are zonular, diffuse, membranous, polymorphic, nuclear, anterior polar and posterior polar cataracts.

Zonular (layered) is the most common among all cataracts occurring in childhood. This form of the disease can be not only congenital. Often it appears in the first years of life. Both congenital and acquired cataracts can progress up to 20 25 years of age.

Layered cataract is characterized by clouding of one or more layers of the lens that lie between the nucleus and peripheral layers. With the usual size of the pupil, it is not always possible to see the clinical picture of a layered cataract. If the pupil is dilated, then even with side illumination it appears as a cloudy gray disk with a sharply defined or serrated edge located deep in the transparent lens. The disk is surrounded by a black rim of transparent peripheral layers of the lens. Layered cataract is always bilateral and is very similar in both eyes. Vision with layered cataracts is most often significantly reduced. The degree of reduction in visual acuity does not depend on the amount of clouding, but on its intensity. With the intensity of clouding, visual acuity may be sufficient to read, write and perform small work. The treatment of layered cataract is surgical and is indicated only with a significant decrease in visual acuity and the inability to read.

Diffuse (complete) cataract is visible to the naked eye. The pupil area is gray or whitish in color, vision is reduced to light perception. A reflex from the fundus of the eye, even with a dilated pupil, cannot be obtained. Surgical treatment.

Membranous cataract is the result of pre- or postnatal resorption of diffuse cataract. It is an opaque capsule of the lens and the remains of the lens masses. The thickness of the grayish-white film, which can be seen well when viewed with side lighting, is usually 1 1.5 mm. Diagnosis of this type of cataract is assisted by biomicroscopy (deepening of the anterior chamber, direct optical section of the lens) and ultrasound. The reflex from the fundus is usually absent, vision is reduced to hundredths of light perception.

Nuclear cataract is characterized by clouding of the central parts of the lens. More often these are dust-like opacities covering the area of ​​the embryonic nucleus; sometimes "riders" (radial processes that stand out against the background of the red glow of the pupil) can be observed.

Polymorphic cataract for polymorphic cataract is taken by all rare opacities of the lens of various localization, form and severity, on which the degree of vision loss depends.

Anterior polar cataract is a sharply limited white opacification of no more than 2 mm in diameter, located in the center of the anterior surface of the lens. This opacification consists of highly altered, abnormally formed cloudy lens fibers located under the lens bag.

The development of anterior polar cataract is associated with a disorder in the process of detachment of the lens bud from the ectoderm. Anterior polar cataract can also develop from other intrauterine processes, as well as after birth as a result of a corneal ulcer.

A posterior polar cataract is a small, round, grayish-white opacification located at the posterior pole of the lens.

Since polar cataracts are always congenital, they are bilateral. Due to their small size, they, as a rule, do not lower vision and do not require treatment.

With congenital opacities, anomalies in the shape and position of the lens, first aid is usually not required, and the task of the pediatrician is to immediately refer a child with eye pathology to an ophthalmologist to resolve the issue of timing and methods of treatment.

Exophthalmos disease of the orbit, a sign of its displacement of the eye, its protrusion or, conversely, retraction of it enophthalmos. Most often, exophthalmos appears as a result of an increase in the orbital contents (tumor, foreign body, hemorrhage) or a decrease in its cavity as a result of protrusion of the bone walls of the orbit. Exophthalmos can also occur as a result of endocrine disorders, lesions of the nervous system, increased tone of the sympathetic nervous system.

sex-linked inheritance

Color blindness or dichromacy is a violation of color vision, it consists in the complete loss of perception of one color component. Partial color blindness is more common in men (8%) and much less common in women (0.4%). discovered and described by the English naturalist John Dalton in 1974. Violation of color vision in the driver, which led to serious consequences, was described in 1875 (in Switzerland, where a train crash occurred with a large number of victims). This tragic incident was the reason for the mandatory test of color vision among workers of all types of transport, soldiers, etc. There are several forms of color blindness: deuteronopia partial anomaly of green color perception (mix green with gray, yellow and dark red) and protanopia anomaly of perception red (mixing red with gray, yellow and dark green), and tritanopia anomaly in the perception of purple. In fact, when one of the color-perceiving components falls out, color blindness is noted not only for one color, but the perception of other colors is also disturbed. Protanop does not distinguish between red and green. Protanopia suffered from the famous physicist Dalton, who for the first time accurately described color blindness to red (1798), after whom it is called color blindness. However, the term "color blindness" is outdated and rarely used. With protanopia, the perception of both red and green colors suffers. When red rays act on the eye, only the green and violet components are excited (the first is stronger, the second is weaker).

When the green component drops out in deuteronopia, the green color will cause a slight irritation of the red and violet elements, as a result of which the eye will see an indefinite gray color. In this case, the red color will be more intense than normal, since it will not have an admixture of green, which exists normally, while the violet color will be more violet, because there is no green color, which gives the violet color a bluish tint. Deuteranopes do not distinguish light green from dark red, violet from blue, purple from gray. Blindness to green is twice as common as to red.

Tritanopia and tritanomaly as congenital disorders are extremely rare. Tritanopes mix yellow-green with bluish-green, as well as purple with red

Visual disturbances in chromosomal syndromes.

The most common visual impairments are lens subluxation, myopia and convergent strabismus, myopia, hyperopia, cataracts. Most of these disorders are corrected with glasses, surgery, and other treatments. The child should be shown to a pediatric ophthalmologist in the first year of life to identify these abnormalities and make a diagnosis.