What is the congenital amaurosis leber?
LEBER Congenital amourosis is a very rare genetic disease that affects the eyes. Infants with disorder may be completely blind or seriously limited in their visual abilities. In addition to vision problems, the lebras congenital amurosis can cause physical symptoms such as cataracts, pupils from errors and jerk movements. Currently, there is no proven condition of condition and patients may expect to have challenges throughout their lives. Using low visions, special educational programs and support for friends and family can learn to overcome many of their problems and eventually become independent, productive individuals.
Scientists have identified more than a dozen genes that contribute to the proper development and functioning of the eyes, and the leber congenital amurosis can correlate with mutations of any of the genes. The illness has an autosomal recessive formula of inheritance, suggesting that both parents must be the same mutated gene to in order to inherit their child. Type and severity of symptoms with mo moHOUSE DIFFERENT Depending on which particular gene is involved.
Most infants who inherit the leber congenital amaurosis have a certain visual reaction at birth and problems may not be evident for several weeks or months. Parents could first start to worry if their children do not respond to visual stimuli or brightness changes. For most of the time, the eyes may seem cloudy or red and pupils can wander from the side or in a circular pattern. Nystagmus, or sudden unprovoked jerky eyes, are common. For reasons that are not entirely clear, infants and young children with congenital amaurosis Leber are also susceptible to constant coating, friction or eye hitting with hands.
Pediatric specialist can diagnose congenital andmaurosis Leber with series tests. The retina is carefully checked that they are unusually shaped or have irregular pigmentation formulas. Eyes are also exposed to electric andMpulzes to measure their sensitivity and determine how well the infant patient sees. Genetic blood tests can be performed to confirm the presence of mutated genes.
Treatment measures are determined on the basis of the severity of the patient's symptoms. If the patient retains part of his / her childhood perspective, the doctor may prescribe glasses and help parents to do special education. There are many public and private programs that help children with vision problems get quality education. Currently, specialized research is underway in the hope of revealing effective surgery and medicines that can help people with congenital Amumaurosis Leber in the future.