Sechenov University has developed a method for diagnosing congenital aniridia

Sechenov University has successfully applied a comprehensive technique that makes it possible to diagnose and predict the development of congenital aniridia, a rare genetic disease. Early diagnosis helps prevent serious complications that can lead to blindness. This was reported to Izvestia on October 9 at the medical institution.

Congenital aniridia is a rare hereditary defect characterized by partial or complete absence of the iris. The main sign of the disease is the absence of an iris, which can cause problems with image focusing and UV protection. Congenital aniridia can lead to various disorders such as hypersensitivity to light, strabismus and lazy eye syndrome.

"As a group of scientists, including Natella Sukhanova, an ophthalmologist at the Clinical Center for Health Sciences at Sechenov University, found out, glaucoma (increased intraocular pressure) occurs in 37% of children with this disease, and keratopathy (corneal opacity) occurs in 74% of children. In 90% of cases, congenital aniridia is caused by a breakdown in the PAX6 gene, which is responsible for the proper formation of the eye," Sechenov University said.

The scientists analyzed the data of 83 patients with congenital aniridia, including 73 children, and systematized information on the frequency and timing of complications. They also identified a link between mutations in the PAX6 gene (53 variations) and the development of various complications such as strabismus and glaucoma. The result of the work was a patent for a method of complex diagnostics of aniridia.

If an eye malformation is suspected or an aniridia is confirmed, pediatricians refer children to an ophthalmologist, who conducts an examination and necessary research, including genetic testing. It is important to undergo chromosomal micromatrix analysis and gene sequencing to accurately diagnose and predict the disease.

In addition, ultrasound examinations of the kidneys, brain and thyroid gland are performed for children, as well as consultations with other specialists. This allows doctors to predict the course of the disease and the risks of complications.

"We see the development of many problems already in the first months of a child's life, and by the age of 7-12, the symptoms progress to irreversible complications leading to blindness. Therefore, supportive treatment should be started at an early age. It is for this reason that the diagnosis and prognosis of this rare eye pathology play an extremely important role," Sukhanova noted.

Predicting the disease helps to reduce the risk of complications such as keratopathy and glaucoma, which can lead to blindness at an older age. The main goal of treatment is the early detection of these problems.

The medical institution drew attention to the fact that almost all children with congenital aniridia need eyeglass correction, as decreased visual acuity and photophobia occur in 90% of cases. Lenses should protect against UV rays, with different levels of dimming for different conditions.

It is also important to take care of the cornea. Due to the lack of stem cells, drops, gels, and in more complex cases, transplantation are prescribed for corneal damage. Doctors recommend special classes for the development of visual perception, which helps to accelerate the development of the child.

Cosmetic surgery, such as the installation of an iris implant, is not recommended, as this can lead to serious damage and complications.

Multidisciplinary help is required for children with aniridia, from a speech therapist to a psychologist. It is important that the child is guided by one doctor who will monitor the disease in the long term and prevent the progression of complications. This is especially important, since narrow specialists may not take into account the general risks, which can lead to vision loss.

To improve diagnosis and treatment, guidelines for the medical care of patients with congenital aniridia have been developed.

Ophthalmologist, ophthalmic surgeon at JSC "Medicine" (Academician Roitberg Clinic), Ph.D. Sino Goziev told Izvestia on September 14 that vision problems often develop due to excessive eye strain caused by the constant use of gadgets. As a result, the visual muscles stop functioning normally, which leads to eye fatigue and decreased image clarity. Their condition can also be affected by using the wrong glasses or contact lenses.

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