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"As long as I was a little girl, I did not understand that I felt very badly, just by wearing glbades that did not improve my vision and who lived my child's life But when I was a teenager, I noticed that it was getting harder and harder to read the text – from black, shiny letters were turning gray, whitish, blurry.My family thought that Had a bad vision because I did not want to learn, but day after day I got worse and I could not read any more text, "she recalls.view exams, whose conclusion is the cataract surgery.After she, the girl saw the world more than ever before.
"It was not easy to tell the scrapes on the wall after the operation, when I I saw the stones after the surgery and the face of my teenager. A few years later, the same operation was waiting for another eye. Subsequently, a secondary cataract was diagnosed, then a laser treatment was applied, again various painful procedures. This lasted until the day when my mistress, my blind friend, whose daughter also found aniridies, looked at my eyes and pronounced this diagnosis. So, at the age of 16, I learned this word and its meaning, not only me, but my son, "- she recalls.
Aniridia, according to the ophthalmologist of doctor at the Rare Ophthalmology Clinic, Kaunas Clinic Rasos Liutkevičienė means irradiation in sight.
"It is a rare conbad pathology that manifests itself in varying degrees of total absence or partial iris. Such people also have cataracts, glaucoma, dislocation of the lens, descent of the eyelids, hypoplasia of the optic nerve. Patients with isolated aniridia have weakened urine, sometimes behavioral and developmental disorders, growth retardation, anxiety syndrome, sleep disorders and other symptoms badociated with nervous system damage. . but sometimes it can be detected up to 3 months, exceptionally up to 1 year, because before that, all children must be examined by a children's ophthalmologist. "Unfortunately, the child is born with a clear disease and visible changes in the eyes, and then progresses to dangerous situations such as keratopathy, cataracts, glaucoma and other diseases whose vision is very complex When glaucoma is detected – anti-glaucoma medications are prescribed or anti-glaucomatological operations are performed, refractive errors are corrected, sometimes contact lenses are recommended, imaging irises, sunglbades and other measures "- Doc.
Vida Jočienė (in the middle) with doctors
© Lina Jakubauskiene
Isolated aniridia is an inherited disease determined by PAX6 gene study
"Probability that the person with aniridosis gets the child with the same disease is 50%. The genetic and molecular clinics of the Kaunas Clinic are being researched on this gene, and family geneticists provide all the necessary information on the prognosis and treatment of the disease, "- the director of the Clinic for Genetics and Disease. molecular medicine Virginia Asmonienė
Vida Jočienė says that the hopes of all people with aniridia are currently being directed to geneticists.
"They are the greatest hope of aniridic patients.The mission of ophthalmologists is to help patients maintain the balance of low vision that they still have up to the day where geneticists find this mysterious weapon aniridique.But now, while the treatment is still sought, I am happy that each of us has a story of personal history as a manual.When such patients speak loud and ask for help, the text text becomes clearer and more understandable.It's great that doctors are starting to work with disease data registries – this will open our wider avenues to knowledge of our rare disease in the medicine of our country, "says Vida.
The words of the patient are supported and doc. R. Liutkevičienė, explaining that the Clinical Center for Rare Diseases at the Kaunas Clinic belongs to the European Network of Reference Centers, which is particularly important to oversee and provide qualified badistance to patients such as Vidai. "Although patients with aniridia do not have an official organization, they have missed none of the lectures on rare diseases, willingly interact with the media and doctors, s & # 39; 39, help and encourage more active action. other patients with rare diseases ", – Dr. Liutkevičienė
Doctors working in Lithuania perform miracles – V. Jočienė refers to the difficult daily work of doctors
" This is not only me, but also the Swedish experts who admire the Lithuanian precursors. Therefore, I would like to thank Dr. Renasvičius, head of the Rare Eye Center. Arvydas Gelžinys, Ass. Rasai Liutkevičienė, prof. Ingrida Janulevičienė, coordinator of the Coordination Center for Rare and Nondiagnostic Diseases and doctors of the pediatric neurologist Milda Dambrauskienė.
These people are always nearby when we want counseling, counseling and, with all our heart, we are looking for ways to help us live with this disease. They will be and will be grateful for all my life, "says Vida Jočienė, adding that she is currently collaborating with a doc ophthalmologist. R. Liutkeviciene and doctor of genetics dr. V. Ašmonienė prepares the first book in Lithuania on people with aniridosis
Currently, there is no symptomatic treatment that eliminates the genetic cause of the disease. If lesions of the corneal epithelium are detected, artificial tears without preservatives are prescribed. It is strictly forbidden to use DELFI's published information on other sites, in the media or elsewhere, or to distribute our material without consent.If we notice significant changes in the cornea, a keratoplasty or a Implantable corneal prosthesis can be performed if a cataract is detected. , and if consent is received, it is necessary to indicate DELFI as the source.
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