Agreement No. 1
public offer of voluntary donation
Interregional Public Organization for Assistance and Assistance to Patients with Hereditary Retinal Diseases "To See!" (International Public Organization “To See!”), hereinafter referred to as the “Beneficial Recipient” represented by President Baibarin Kirill Aleksandrovich, acting on the basis of the Charter, hereby invites individuals and legal entities or their representatives, hereinafter referred to as the “Donor”, collectively referred to as the “Parties”, to conclude an Agreement on voluntary donation on the following terms:
1. General provisions about the public offer
1.1. This offer is a public offer in accordance with paragraph 2 of Article 437 of the Civil Code of the Russian Federation.
1.2. Acceptance (acceptance) of this offer is the transfer of funds by the Benefactor to the account of the Beneficiary as a voluntary donation for the statutory activities of the Beneficiary. Acceptance of this proposal by the Donor means that the latter has read and agrees with all the terms of this Voluntary Donation Agreement with the Beneficiary.
1.3..
1.4. The text of this offer may be changed by the Beneficiary without prior notice and is valid from the day following the day it is posted on the Site.
1.5. The Offer is valid until the day following the day of posting on the Site notice of cancellation of the Offer. The Beneficiary has the right to cancel the Offer at any time without giving reasons.
1.6. The invalidity of one or more terms of the Offer does not entail the invalidity of all other terms of the Offer.
1.7. By accepting the terms of this agreement, the Donor confirms the voluntary and gratuitous nature of the donation.
2. Subject of the contract
2.1. Under this agreement, the Donor, as a voluntary donation, lists his own cash to the account of the Beneficiary, and the Beneficiary accepts the donation and uses it for the statutory purposes.
2.2. The performance by the Donor of actions under this agreement is a donation in accordance with Article 582 of the Civil Code Russian Federation.
3. Activities of the Beneficiary
3.1 The main purpose of the activities of the Beneficiary is:
providing comprehensive assistance and support to patients with hereditary retinal diseases, including in social, psychological and labor adaptation, training;
promoting the prevention, diagnosis, treatment and research of hereditary retinal diseases;
attracting the attention of state bodies and the public to the problems of people with hereditary retinal diseases; representation and protection of the rights and legitimate interests of persons of this category and members of their families in government bodies; protection of the common interests of the members of the Beneficiary;
development of comprehensive cooperation between public organizations and health authorities, promoting the strengthening of links between science, education and practice;
international cooperation in the field of care for patients with hereditary retinal diseases;
establishing personal contacts, communication between members of the Beneficiary, providing mutual support and assistance;
promotion of activities in the field of prevention and protection of the health of citizens, promotion of a healthy lifestyle, improvement of the moral and psychological state of citizens;
assistance in the implementation of humane and peaceful initiatives of public and state organizations, projects and programs of international and national development.
The main activities of the Beneficiary in accordance with the current legislation of the Russian Federation are specified in the Charter of the Beneficiary.
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4. Conclusion of the contract
4.1. Individuals and legal entities or their representatives have the right to accept the Offer and thereby conclude the Agreement with the Beneficiary.
4.2. The date of acceptance of the Offer and, accordingly, the date of conclusion of the Agreement is the date of transfer of funds to the Beneficiary's settlement account or, in appropriate cases, to the Beneficiary's account in the payment system. The place of conclusion of the Agreement is the city of Moscow of the Russian Federation. In accordance with paragraph 3 of Article 434 of the Civil Code of the Russian Federation, the Agreement is considered concluded in writing.
4.3. The terms of the Agreement are determined by the Offer as amended (subject to amendments and additions) valid (in force) on the day the payment order is issued or the day it deposits cash into the Beneficiary's cash desk.
5. Making a donation
5.1. The Donor independently determines the amount of the amount of the voluntary donation (one-time or regular) and transfers it to the Beneficiary by any payment method indicated on the site on the terms of this Agreement. According to Article 582 of the Civil Code of the Russian Federation, donations are exempt from VAT.
5.2. Purpose of payment: “Donation for statutory activities. VAT exempt” or “Voluntary donation for statutory activities” or “Voluntary donation for statutory purposes”.
5.3. Donations received by the Beneficiary without specifying a specific purpose are directed to achieve the statutory goals of the Beneficiary
5.4. The donor has the right, at his own discretion, to choose the object of assistance, indicating the appropriate purpose of the payment when transferring the donation.
5.5. Upon receipt of a donation indicating the name and surname of the person in need, the Beneficiary directs the donation to help this person. In the event that the amount of donations to a specific person exceeds the amount necessary to provide assistance, the Beneficiary informs the Contributors about this by posting information on the website. The donor, who did not agree with the change in the purpose of funding, has the right, within 14 calendar days after the publication of this information, demand a refund in writing.
5.6. When transferring a Donation through an electronic payment system, the Donor may be charged a commission depending on the chosen payment method (electronic money, SMS payments, money transfers). Donations transferred by the Donor through the electronic payment system are accumulated by the payment system on the accounts of the system, then the funds in the total total amount collected for a certain period are transferred to the Foundation's settlement account. From transferred to the settlement account of the Fund sum of money the electronic system may withhold a commission. The amount of funds received by the Fund will be equal to the amount of the Donation made by the Donor, minus the fees charged by the payment system.
5.7. The donor can issue a regular (monthly) donation debit from a bank card.
The order is considered executed from the moment of the first successful withdrawal of the donation from the bank card.
The order for regular debiting is valid until the expiration of the cardholder's card or until the Benefactor submits a written notice of termination of the order. The notification must be sent to the email address info@website at least 10 days before the date of the next automatic charge. The notification must contain the following data: surname and name, as indicated on the bank card; the last four digits of the card from which the payment was made; e-mail address to which the recipient will send confirmation of the termination of regular debiting.
6. Rights and obligations of the parties
6.1. The Beneficiary undertakes to use the funds received from the Donor under this Agreement strictly in accordance with the current legislation of the Russian Federation and within the framework of the statutory activities.
6.2. The Donor gives permission for the processing and storage of personal data used by the Beneficiary solely for the performance of the specified agreement, as well as for informing the activities of the Beneficiary.
6.3. Consent to the processing of personal data is given to the Benefactor for an indefinite period. In the event of withdrawal of consent, the Beneficiary undertakes to destroy or depersonalize the personal data of the Benefactor within 5 (five) business days.
6.4. The Beneficiary undertakes not to disclose to third parties the personal and contact information of the Benefactor without his written consent, except when this information is required government bodies authorized to request such information.
6.5. The donation received from the Donor, due to the closure of the need, partially or completely not spent according to the purpose of the donation specified by the Donor in the payment order, is not returned to the Donor, but is redistributed by the Beneficiary independently to other relevant programs, the statutory goals of the Beneficiary.
6.6. At the request of the Donor (in the form of an electronic or regular letter), the Beneficiary is obliged to provide the Donor with information about the donations made by the Donor.
6.7. The Beneficiary does not bear any other obligations to the Donor, except for the obligations specified in this Agreement.
7. Other terms
7.1. In the event of disputes and disagreements between the Parties under this agreement, they will, if possible, be resolved through negotiations. If it is impossible to resolve the dispute through negotiations, disputes and disagreements may be resolved in accordance with the current legislation of the Russian Federation in the courts at the location of the Beneficiary.
8. Details
BENEFICIARY:
Interregional Public Organization for Assistance and Assistance to Patients with Hereditary Retinal Diseases "To See!"
Legal address: 127422, g. Moscow, Dmitrovsky proezd, house 6, building 1, apartment 122,
PSRN 1167700058283
TIN 7713416237
Gearbox 771301001
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 illnesses, it is necessary to notice something was wrong in a timely manner and consult a doctor.
Vision problems in children
Violation of the quality of vision is one of the reasons for the delay in the development of children in the first years of life. If vision is impaired in preschool children, they cannot properly prepare for school, their range of interests is limited. Schoolchildren with low vision are associated with a decrease in academic performance and self-esteem, limited ability to engage in their favorite sport, choose a profession.
The visual system of the child is at the stage of formation. It is very flexible and has huge reserve capabilities. Many diseases of the organs of vision are successfully treated in childhood, if they are diagnosed in a timely manner. Unfortunately, treatment that is started later may not give good results.
Eye diseases in newborns
Many violations visual function develop as a result congenital diseases. They appear immediately after birth. After treatment, children develop better, their range of interests expands.
In newborn children, ophthalmologists diagnose the following diseases of the organ of vision:
- Congenital. This clouding, which is manifested by a decrease in visual acuity and a grayish glow. Due to the violation of the transparency of the lens, light rays cannot fully penetrate into. For this reason, the cloudy lens must be removed. After surgery, the child will need or special glasses.
- Congenital - a disease of the organ of vision, in which intraocular pressure rises. This is due to a violation of the development of the ways in which the outflow occurs. Intraocular hypertension causes stretching of the membranes of the eyeball, an increase in its diameter and clouding of the cornea. Compression and atrophy occur optic nerve leading to gradual loss of vision. With this disease, eye drops that reduce intraocular pressure are constantly instilled into the conjunctival sac. If conservative treatment fails, surgery is performed.
- Retinopathy of the newborn is a disease of the retina that develops mainly in premature babies. With this pathology, the normal growth of retinal vessels stops. They are replaced by pathological veins and arteries. Fibrous tissue develops in the retina, followed by scarring. Over time, retinal occurs. At the same time, the quality of vision is disturbed, sometimes the child stops seeing. The disease is treated with laser therapy, if it is ineffective, the operation is performed.
- - this is a condition in which one or both eyes look in different directions, that is, they deviate from a common fixation point. Until the fourth month of life, the nerves that control the oculomotor muscles are not formed in children. For this reason, the eyes may deviate to the side. In the case when strabismus is strongly expressed, consultation of an ophthalmologist is necessary. In children, spatial perception may be disturbed, 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, perform vision correction.
- is not voluntary movements eyeballs either horizontally or vertically. They can turn around. The child is not able to fix his gaze, he does not develop high-quality vision. The treatment of this disease is to correct visual impairment.
- Ptosis is the drooping of the upper, which occurs due to the underdevelopment of the muscle that lifts it. The disease can develop due to damage to the nerve that innervates this muscle. When the eyelid is lowered, little light enters the eye. You can try to fix the eyelid with adhesive tape, but in most cases, children aged 3 to 7 years old surgical correction ptosis.
Visual impairments in preschool children
Strabismus
One of the diseases that lead to a violation of the quality of vision in children before school age, is strabismus. This pathology can be caused by such reasons:
- uncorrected violation;
- decreased visual acuity in one eye;
- damage to the nerves responsible for the work of the oculomotor muscles.
In the presence of strabismus, the image of the object does not fall on the same parts 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. Thus, either convergent strabismus is formed, towards the bridge of the nose, or divergent - towards the temples.
Treatment of strabismus is recommended to start as early as possible. Patients are prescribed glasses that not only improve the quality of vision, but also give the eyes correct position. With damage to the oculomotor nerves, electrical stimulation is used and exercises are prescribed to train a 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. For the treatment of amblyopia, the healthy eye is switched off from the visual process and the affected organ of vision is trained.
Refractive pathology
In children preschool age refractive errors are often diagnosed:
- . It is most common in children 3 to 5 years of age. If hypermetropia reaches 3.5 diopters in one eye, and there is a different visual acuity in both eyes, amblyopia and strabismus may develop. Children are prescribed glasses to correct vision.
- When the child does not see well into the distance. His visual system is unable to adapt to such an anomaly, therefore, even with a slight degree of myopia, children are prescribed spectacle correction.
- In the case, the image of objects that are located both near and at a far distance is distorted. With this pathology, a correction is prescribed with complex glasses with cylindrical glasses.
Eye diseases in schoolchildren
School-age children are also susceptible to refractive errors.
Myopia
With this violation of visual function, the size of the eyeball increases or light rays are excessively refracted. They converge in front of the retina, and a fuzzy image is formed on it. Due to the active growth of the eyeball and increased load on the apparatus, children aged 8-14 develop myopia. The child cannot see what is written on the blackboard where the ball is while playing football. To correct myopia, children are prescribed glasses with diverging lenses.
farsightedness
Farsightedness, or hypermetropia, 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. It forms a fuzzy image. Most often, farsightedness is first detected in children of ten years of age. If hypermetropia is low, then the child sees objects located far away well. Due to the good accommodative function, he clearly sees objects located at a short distance. Glasses are prescribed to schoolchildren in the presence of such indications:
- hyperopia above 3.5 diopters;
- deterioration in visual acuity of one eye;
- appearance when working at close range;
- the presence of headaches;
- eye fatigue.
To correct hypermetropia, children are prescribed glasses with converging lenses.
Astigmatism
Astigmatism is a visual impairment in which light rays refract differently in two mutually perpendicular planes. As a result, a distorted image is formed on the retina. The cause of astigmatism may be uneven curvature, formed as a result of a congenital anomaly of the eyeball. If the difference in refractive power does not exceed 1.0 diopter, then it is easily tolerated. In the case when the 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 glasses.
With an accommodation disorder, the clarity of perception is lost when considering those objects that are at different distances or move relative to the observer. It develops due to contractility ciliary muscle. In this case, the curvature of the lens remains unchanged. It provides clear vision only at a distance or near.
In children aged 8 to 14 years, as a result of excessive stress on the eyes occurs. The ciliary muscle contracts and loses its ability to relax. The lens becomes convex. It provides good vision close. In this case, students have trouble seeing into the distance. This condition is also called false myopia. With a spasm of accommodation, children perform gymnastic exercises for the eyes, they are prescribed instillations of special drops.
Lack of convergence is manifested by a violation of the ability to direct and hold the visual axes of both eyeballs on an object that is at a close distance or moves towards the eye. In this case, one or both eyeballs deviate to the side, which causes double vision. Convergence can be improved with specific exercises.
If the patient does not have the opportunity to combine the two images that are formed on the retina of the left and right eyes in order to obtain a three-dimensional image, a disorder of binocular vision develops. This happens due to differences in the clarity or size of the images, as well as when they hit different parts of the retinas. In this case, the patient sees two images at the same time, which are shifted one relative to the other. In order to eliminate diplopia, the brain can suppress the image that is formed 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 violations of visual function. The result is achieved as a result of prolonged training of the joint work of both eyes.
What else can be done to restore vision in a child?
With refractive disorders in children (myopia, hypermetropia and astigmatism), as well as strabismus and amblyopia, most ophthalmologists prescribe courses hardware treatment, which give good effect. If earlier, for this, young patients and their parents needed to visit the clinic, spending time on the road and queues (and sometimes nerves and money), now, with the development of technology, a number of effective and safe devices have appeared that can be used at home. The devices are small, affordable and easy to use.
The most popular and effective devices for home use
Glasses Sidorenko (AMVO-01)- the most advanced device for independent use by the patient during various diseases eye. Combines color impulse therapy and vacuum massage. It can be used both in children (from 3 years old) and in elderly patients.
Vizulon- a modern device for color pulse therapy, with several programs, which allows it to be used not only for prevention and complex treatment vision diseases, but also in the pathology of the nervous system (with migraine, insomnia, etc.). Supplied in several colors.
The most famous and popular device for the eyes, based on the methods of color pulse therapy. It has been produced for about 10 years and is well known to both patients and doctors. It is low cost and easy to use.
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 very important element the eyeball, because it is responsible for the formation of the image, which is then transmitted to the brain.
The main symptom indicating the presence of retinal diseases is a sharp decline visual acuity. Naturally, accurate diagnosis It is impossible to put 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 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 connective tissue white color. 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. At 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 may occur when 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 pathological change iris And. The reason for the changes lies in mutations affecting the 22nd chromosome. In patients with the syndrome cat eye 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 moderate, then after surgical treatment the patient can live relatively normally. But when there are serious violations internal organs the patient dies.
color blindness
This congenital pathology expressed in 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 they appear vivid symptoms pathology, then conservative treatment does not give the desired effect. Therefore, cataract prevention is very important. expressed in annual survey at the 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 ophthalmological clinics doctors can choose which treatment to apply to a cataract patient.
Attention, only TODAY!
The proportion of congenital and hereditary eye diseases is large. They currently account for 71.75% of all causes of blindness and low vision in children.
The following types of congenital and hereditary eye pathology are considered below.
- Local or systemic disorders embryonic development conditioned by:
a) damage to the genetic apparatus of cells during viral and toxoplasmic effects;
b) violations of embryogenesis due to various infections and intoxications suffered by the mother during pregnancy. - Congenital hereditary lesions caused by chromosomal or gene pathology, as well as genetically determined metabolic disorders.
- Congenital and congenital hereditary clinically defined syndromes, most often associated with chromosomal diseases or gene mutations.
The regularity of the combination of some signs of eye pathology in the syndromes has been established. For example, microphthalmos is often combined with colobomas of the iris and choroid, cataracts - with aniridia, ectopia of the lens, high congenital myopia - with remnants of embryonic tissues, colobomas of the choroid, pigmentary dystrophy retina - with keratoconus. A number of congenital defects on the part of the eyes and the whole body are associated with certain chromosomal aberrations and changes in the karyotype.
The main methods for diagnosing these diseases are clinical and genetic methods - genealogical, cytogenetic, cytological, biochemical, etc.
This section provides information and photos on the following diseases:
- congenital and congenital hereditary diseases of the anterior part of the eye and its appendages (eyelids, cornea, iris, lens);
- congenital and congenital-hereditary lesions of the fundus (the most frequently inherited signs in families with congenital myopia, retinal dystrophy, optic nerve atrophy, etc.).
277. Congenital dermoid tumor of the upper eyelid (a, b).
278. Congenital complete left-sided ptosis.
279. Congenital partial left-sided ptosis.
280. Congenital complete bilateral ptosis and epicanthus.
281. Congenital partial bilateral ptosis and epicanthus.
282. Marcus-Gunn syndrome.
a - left-sided palpebro-mandibular synkinesis;
b - decrease in ptosis when opening the mouth and retracting the lower jaw.
283. Congenital extensive angioma of the face and head (recessive type of inheritance).
284. Angioma of the lower eyelid.
285. Angioma of the upper and lower eyelids.
286. Neurofibroma of the eyelids, conjunctiva of the eyeball and orbit.
287. Advanced neurofibroma of the eyelid and orbit.
288. Neurofibroma of the eyelids and conjunctiva of the eyeball 10 years after surgery.
289. Congenital bilateral dermoid of the conjunctiva and cornea,
a - right eye;
b - left eye.
290. Fleischer's pigment ring - unilateral deposition of homosiderin in the form of a brown half-ring along the periphery of the cornea on the border with the limbus.
291. Congenital, hereditary glaucoma (type of inheritance autosomal dominant).
a - in the father: clouding of the cornea, congestive perilimbal injection of blood vessels (symptom of "jellyfish"). The anterior chamber is small, the pupil is wide;
b - d - son: the cornea of both eyes is enlarged, edematous, the anterior chamber is deep. Dystrophy of the iris.
292. Bilateral megalocornea (a, b) with hydrophthalmos (corneal diameter 16-17 mm), hypertelorism, myopia, iris hypoplasia in homozygous twins. The limb is expanded, the anterior chamber is deep. One of the twins (b) has a divergent strabismus in the right eye.
293. Congenital supra-pupillary membrane (a, b).
294. Congenital ectopic pupil with coloboma of the iris, partial clouding of the lens.
295. Congenital ectopic pupil with iris coloboma.
296. Congenital, hereditary subluxation of the lens in both eyes in two brothers P.
a, b - Alexander;
c, d - Oleg.
297. Congenital cataract with saturated opacities in the equatorial region in the form of hairpins, planted on the edge of the cloudy disk ("riders").
298. Congenital zonular nuclear cataract (stereophoto).
299. Congenital zonular cataract with clouding posterior capsule in the form of a triangle (stereophoto).
300. Congenital zonular cataract with clouding at the pole of the anterior capsule.
301. Abortive form of congenital zonular cataract - cataracta pulvurulenta zonularis, consisting of densely located dots surrounding the nucleus.
302. Congenital and hereditary layered cataracts traced in 4 generations of the Ya family (recessive type of inheritance).
Brother. Congenital layered cataract with compacted nucleus:
a - right eye;
b - left eye. Sister. Congenital layered "cataract with a diameter of opacification of 5 mm;
c - right eye; d - left eye.
303. Remains of myelin fibers of the optic nerve in high congenital myopia in the family of P.
Father:
a - right eye;
b-left eye. Son:
c - right eye; above and below at the optic disc;
d - left eye.
304. Anomalies in the development of the fundus in congenital hereditary myopia (dominant type of inheritance). Connective tissue covers the entire optic nerve head and extends into the macular region - membrane prepapilaris.
305. Anomalies in the development of the fundus in congenital hereditary myopia (dominant type of inheritance). Coloboma of the entrance of the optic nerve head, true staphyloma and underdevelopment of the choroid in the prenatal period.
306. Anomaly in the development of the fundus in congenital hereditary myopia (dominant type of inheritance). The entire optic nerve is covered with connective tissue, only in the center of it there is a gap through which a section of a normal disc is visible. The connective tissue also covers the vessels of the membrane prepapilaris.
307. Anomalies in the development of the fundus in congenital, hereditary myopia (recessive type of inheritance). Macular coloboma. The vessels exit the coloboma from the side of the choroid and anastomose with the vessels of the retina.
308. Anomalies in the development of the fundus in congenital hereditary myopia (recessive type of inheritance). Congenital absence of the temporal half of the disc.
309. Hypergliosis near the optic disc. Remains of the artery of the primary vitreous body- A. hyaloidea.
310. Remains a. hyaloidea.
311. Changes in the fundus of the eye in congenital myopia with toxoplasmosis. Extensive chorioretinal focus in the macular region with pigment deposition.
312. Changes in the fundus of the eye in congenital myopia with toxoplasmosis. Extensive chorioretinal focus in the macular region with pigment deposition.
313. Changes in the fundus of the eye in congenital myopia in the E. family (dominant type of inheritance). Mother:
a - right eye. Extensive myopic staphyloma, choroid atrophy, pigmentation in the macular region;
b - left eye. The optic disc is oval, with a large myopic cone. Father:
c - left eye. Extensive myopic cone, macular pigmentation. Son:
d - right eye. Extensive myopic cone at the disc, underdevelopment of the choroid, underdevelopment of the macular area. Daughter:
d - right eye. Oval disc, extensive myopic cone.
314. Congenital myopia and ptosis in the G. family (dominant type of inheritance).
Father:
a - congenital ptosis, high myopia. Eldest daughter:
b-congenital ptosis, high myopia. Youngest daughter:
c - congenital ptosis, high myopia. Father:
d - fundus of the left eye, myopic cone. Eldest daughter:
e - fundus: right eye - myopic cone; mild degree atrophy of the choroid at the optic disc. Youngest daughter:
f - the fundus of the right eye, an extensive coloboma of the choroid at the optic nerve head.
315. Changes in the fundus of the eye in congenital myopia in two twins and their mother in the T. family (dominant type of inheritance).
a - Yuri T.;
b - Igor T. Yuri T.:
c - right eye: myopic cone, vascular atrophy in the parapapillary region, albinism of the fundus;
d - left eye: myopic cone with pigment deposition. From Igor T.:
e - right eye: myopic cone, atrophy of the choroid in the parapapillary region, albinism of the fundus;
e - left eye: myopic cone, albinism of the fundus;
g-left eye: remains of the primary vitreous body. The mother of twins:
h - right eye: extensive myopic cone, albinism of the fundus.
316. Congenital and hereditary underdevelopment of the choroid at the optic disc, macular area, amblyopia, high hypermetropia in the family of Ch.
a - Evgeny Ch.;
b - Vladimir C. Evgeny C.:
c - right eye. Underdevelopment and atrophy of the choroid near the optic disc, an enlarged scleral ring. Vladimir C.:
d - left eye. Underdevelopment and atrophy of the choroid in the parapapillary region, expressed along the vessels, in the mother of twins
d - right eye. Underdevelopment of the choroid in the macular region, pigmented foci;
f - left eye: atrophy of the choroid in the paramacular region, pigmentary foci.
317. Congenital hereditary atrophy and aplasia of the optic discs (autosomal recessive inheritance).
At my brother's:
a - right eye. Congenital aplasia and atrophy of the optic disc. Disc tissue is preserved only in the bow between vascular bundle and edge of the disk. In the temporal part, a cribriform plate is exposed by 3/4. Around the optic nerve - underdevelopment of the choroid ring-shaped. At the sister:
b - right eye: congenital atrophy and aplasia of the optic disc with a more pronounced atrophic area in the temporal half.
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 2,000 human diseases are hereditary, of which 10-15% are eye diseases, the same amount is due to systemic diseases with ocular 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.
Especially often hereditary and birth defects children suffer. 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. Role hereditary factors in the etiology of the disease of the organ of vision was detected in 42.3% of cases.
Many anomalies are due to abnormal development and the formation of the eye or its individual components in 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. Impact harmful factors for more late stages development of the eye 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 (hereditary changes in the phenotype of the organism caused by factors environment and a copying manifestation of some 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 in early age(from several 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 - combination in one eye various kinds refraction or different degrees 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 - 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, i.e. without glasses they cannot see objects in different planes. 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. More often seen on 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. Most a typical example is the ectopia of the lens, observed with a family-hereditary lesion of the entire musculoskeletal system, which is expressed in elongation distal phalanges 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 clinical picture 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 ultrasonography. 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 take all the rare clouding of the lens different localization, forms 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 orbital contents (tumors, foreign body, hemorrhage) or a decrease in its cavity as a result of protrusion of the bone walls of the orbit. Exophthalmos can also result from 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 occurs more often in men (8%) and much less frequently 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 is a partial anomaly in the perception of green (mixed green color with gray, yellow and dark red) and protanopia - an anomaly in the perception of red (red is mixed 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 a 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
Less common microphthalmos is associated with refractive error, ectopic pupil, congenital cataract, pathology of the choroid and retina, and sometimes with mental retardation and is transmitted in an autosomal dominant, autosomal recessive, and sex-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.
