An aniridia is a bilateral congenital anomaly, in which the iris is considerably underdeveloped, but under gonioscopy a rudimentary rudiment of the iris is visible. In 2/3 of cases, a dominant type of inheritance is observed with high penetrance. In 20% of cases, a link with the Wilms tumor is observed: the deletion of the short arm of chromosome 11 is responsible for the development of Wilms' tumor and sporadic aniridia. Because of hypoplasia of the fossa and optic nerve, visual acuity is often low. Other eye conditions associated with aniridia include keratopathy, cataract (60-80%), and lens dislocation. Aniridia often manifests as photophobia, nystagmus, decreased vision and strabismus. Usually, the progressive opacification of the cornea along the periphery and the pannus along the entire circumference are observed.
Glaucoma associated with aniridia usually does not develop until adolescence or adolescence. The cause of its development can be trabeculogenesis or progressing blockade of the trabecular network by the residual iris. With the development of such glaucoma in early childhood can be shown goniotomy or trabeculotomy. It is established that early goniotomy can prevent the progressive adhesion of the residual peripheral iris to the trabecular network.
In older children, medication should first be used to control intraocular pressure. Any surgical intervention is risky because of the possibility of damage to the unprotected lens and the zonular ligaments, and drainage is associated with a high risk of infringement of the vitreous humor. Some patients with uncontrolled, far-reaching glaucoma can be shown cyclodeastructive operations.
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The Aksenfeld anomaly
The abnormality of Axenfeld is characterized by the pathology of the peripheral parts of the cornea, the angle of the anterior chamber and the iris. The pronounced Schwalbe line, known as the posterior embryotoxone, is peripheral damage to the cornea. You can find iris bands attached to the posterior embryotoxone, and hypoplasia of the anterior stroma of the iris. The disease is usually bilateral, has an autosomal dominant type of inheritance.
In 50% of cases with Aksenfeld syndrome diagnosed glaucoma. If glaucoma occurs in infants, then goniotomy or trabeculotomy is often effective. If the glaucoma occurs later, then first you should apply medication, and then, if necessary, a fistulizing operation.
The Rieger anomaly represents a more pronounced degree of dysgenesis of the anterior chamber angle. In addition to the clinical aspect described with the Axenfeld anomaly, pronounced hypoplasia of the iris with polycoria and ectopia of the pupil is observed. Usually this anomaly is bilateral, inherited by an autosomal dominant type, sporadic cases can also occur. Glaucoma develops in more than half the cases, often requires surgical treatment.
Rieger's syndrome is a combination of signs of the Rieger anomaly with systemic malformations. The most frequent associated systemic abnormalities are defects in the development of teeth and claws, facial skulls. Dental abnormalities are a reduction in the size of the teeth (microdontium), a reduction in the number of teeth, equal interdental intervals, and a focal absence of teeth (most often the anterior maxillary dairy or permanent central incisors).
Since the changes in the angle of the anterior chamber under these conditions are similar, they assume that they represent variants of developmental anomalies, called the syndrome of anterior chamber dissection and mesodermal dysgenesis of the cornea and iris. They are also known as the Axenfeld-Rieger syndrome.
The anomaly of Peter
The anomaly of Peter is a violation of the development of the anterior chamber of a severe degree. Mark corneal opacification associated with posterior stromal defect (corneal ulcer Von Hippel). In the fusion of the iris and the cornea, the lens can also be included in the absence of the endothelium of the cornea. The anomaly of Peter is bilateral, often associated with glaucoma and cataracts. Transplantation of the cornea with simultaneous removal of cataracts to improve visual acuity has a cautious outlook. In these cases, trabeculectomy or the establishment of drainage devices are indicated for the control of glaucoma.
Marfan syndrome is characterized by musculoskeletal anomalies: arachnodactyly, large growth, long limbs, excessive extension of joints, scoliosis, cardiovascular diseases and eye anomalies. Inheritance by autosomal dominant type with high penetrance, but approximately 15% cases are sporadic.
Eye symptoms include lens dislocation, microfakia, megalocornea, myopia, keratoconus, iris hypoplasia, retinal detachment and glaucoma.
Zonular ligaments are often weakened and torn, which leads to an upper subluxation of the lens (the lens can also be contracted in the pupil or fall into the anterior chamber, leading to glaucoma).
Often in childhood or adolescence can develop open-angle glaucoma, which is associated with congenital anomalies of the anterior chamber. Through the recess of the angle, dense outgrowths of the iris are thrown over, attached anteriorly from the scleral spur. The iris tissue overlapping the indentation can have a convex shape. Usually glaucoma develops in older children, first you should use medical therapy.
Microspherophacia can be either an isolated pathology inherited by an autosomal recessive or dominant type, or associated with the Weill-Markesian syndrome. The syndrome is characterized by low growth, brachydactyly, brachycephaly and microspherophacia. The lens of small size, spherical, can be displaced anteriorly, causing glaucoma of the pupillary block. Closed-angle glaucoma can be treated using mydriatica, iridectomy or lens removal. Glaucoma usually develops in older children or in adolescence.
Syndrome-Weber syndrome (encephalotrigeminal angiomatosis)
Sterzh-Weber syndrome is characterized by hemangioma on the face, spreading along the course of the trigeminal nerve fibers. Usually, the hemangioma is one-sided, but it can also be bilateral. Often meet conjunctive, episcleral and choroidal anomalies. Diffuse defeat of the choroid is called a "tomato-ketchup" bottom. A clear type of inheritance is not revealed.
Glaucoma often occurs when the same side of the facial hemangioma extends to the eyelids and conjunctiva. Glaucoma can occur in infancy, older childhood or in adolescence. Glaucoma, arising in infancy, is similar to glaucoma associated with isolated trabeculodysgenesis, it is amenable to treatment with the help of goniotomy.
Glaucoma, which occurs later, is probably associated with an increase in pressure in the episcleral veins due to arterio-venous anastomosis. In older children, treatment should begin with the appointment of medications. In the absence of effect when using drugs, trabeculectomy is indicated. Fistulizing operation is accompanied by a high risk of choroidal bleeding, in the course of such operations, the depth of the anterior chamber decreases due to a decrease in intraocular pressure. The level of intraocular pressure drops below the arterial pressure, which leads to the exit of the choroidal fluid into the surrounding tissues.
Neurofibromatosis is a hereditary disease of the neuroectoderm, which is manifested by gammarthromas of the skin, eyes and nervous system. First of all, the syndrome affects tissues developing from the neural crest, in particular, the sensory nerves, schwann cells and melanocytes.
There are two forms of neurofibromatosis: NF-1, or classical neurofibromatosis of Recklinghausen, and NF-2, or bilateral acoustic neurofibromatosis. NF-1 is the most common form with skin lesions in the form of coffee-colored stains with cream, dermal neurofibromatosis, iris gammarthromes (Lisha nodules) and gliomas of the optic nerve. NF-1 occurs in approximately 0.05% of the population, the incidence is 1 per 30 000. It is inherited by autosomal dominant type with full penetrance. NF-2 is less common, the incidence is approximately 1 per 50,000.
Skin manifestations include coffee-colored spots with cream, appearing as hyperpigmented patches on any part of the body, with age observe a tendency to increase spots. Numerous neurofibromas are benign tumors of connective tissue of the nervous system the size of from the smallest isolated nodules to the huge soft formations on the stem. Ophthalmic manifestations include: iris gammarthromes clinically defined as bilateral, raised above the surface, smooth domed foci; plexiform neurofibromas of the upper eyelid, which appear as a thickened edge of the eyelid with ptosis and S-shaped deformation; retinal tumors, most often astrocytic gammarthromes; gliomas of the optic nerve, which are manifested by a one-sided decrease in visual acuity or strabismus, are observed in 25% of cases. Sometimes glaucoma develops on the same side, often associated with plexiform neurofibroma of the upper eyelid.