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Leber congenital amaurosis is a rare genetic disease that affects vision and can cause physical symptoms. There is no proven treatment, but low vision aids and support can help affected children become independent. The disease is caused by mutations in any of more than a dozen genes and is diagnosed through tests. Treatment is based on the severity of symptoms, and research is ongoing to find effective treatments.
Leber congenital amaurosis is a very rare genetic disease that affects the eyes. Children born with the disorder may be completely blind or severely limited in their vision. In addition to vision problems, Leber congenital amaurosis can cause physical symptoms such as cataracts, misshapen pupils, and jerky eye movements. There are currently no proven treatments for the condition, and patients can expect to experience lifelong challenges. Low vision aids, special education programs, and support from friends and family can help children with the disorder learn to overcome many of their problems and eventually become independent and productive individuals.
Researchers have identified more than a dozen genes that contribute to proper eye development and function, and Leber congenital amaurosis can be related to mutations in any of the genes. The disease has an autosomal recessive inheritance pattern, which means that both parents must be carriers of the same mutated gene for the child to inherit the condition. The type and severity of symptoms can vary depending on which particular gene is involved.
Most babies who inherit Leber congenital amaurosis have some visual response at birth, and problems may not become apparent for several weeks or months. Parents may start to worry when their babies don’t respond to visual stimuli or changes in brightness. The eyes may appear cloudy or red most of the time, and the pupils may wander from side to side or in a circular pattern. Nystagmus, or sudden, sudden jerky movements of the eyes, is common. For reasons that aren’t fully understood, infants and young children with Leber congenital amaurosis are also prone to constant poking, rubbing, or poking at their eyes with their hands.
A pediatric specialist can diagnose Leber congenital amaurosis with a series of tests. The retinas are carefully inspected to see if they are unusually shaped or have irregular pigmentation patterns. The eyes are also exposed to electrical impulses to measure their sensitivity and determine how well a newborn can see. Genetic blood tests may be done to confirm the presence of mutated genes.
Treatment measures are determined according to the severity of the patient’s symptoms. If a patient retains some of her vision in childhood, a doctor can prescribe glasses and help parents make special educational arrangements. There are many public and private programs available to help vision-impaired children get a quality education. Dedicated research is currently underway in hopes of discovering effective surgical procedures and drugs that may help people with Leber congenital amaurosis in the future.
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